ClinVar Miner

List of variants reported as uncertain significance for Holoprosencephaly sequence

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 154
Download table as spreadsheet
HGVS dbSNP
NC_000008.11:g.(?_144474218)_(144475776_?)dup
NC_000008.11:g.(?_144475137)_(144475776_?)dup
NC_000008.11:g.144476031C>A
NC_000008.11:g.144476063C>G
NC_000008.11:g.144476093C>T
NC_000008.11:g.144476283G>A
NC_000008.11:g.144476299G>A
NM_000193.4(SHH):c.468C>A (p.Ser156Arg) rs1554494372
NM_000264.5(PTCH1):c.*1866_*1867TG[12] rs59205702
NM_000264.5(PTCH1):c.*2288dup rs548096592
NM_000264.5(PTCH1):c.2460C>T (p.Tyr820=) rs766227557
NM_001243597.1(CDON):c.*2351_*2352CA[12] rs35654681
NM_001243597.1(CDON):c.*2351_*2352CA[14] rs35654681
NM_001243597.1(CDON):c.*2351_*2352CA[16] rs35654681
NM_001243597.1(CDON):c.*2351_*2352CA[17] rs35654681
NM_001243597.1(CDON):c.*2377_*2378TA[10] rs140500280
NM_001243597.1(CDON):c.*2377_*2378TA[12] rs140500280
NM_001243597.1(CDON):c.*2379_*2380CA[3] rs886047955
NM_001243597.1(CDON):c.*2379_*2380CA[6] rs886047955
NM_001243597.1(CDON):c.*2381_*2382CA[3] rs886047954
NM_001243597.1(CDON):c.*2381_*2382CA[5] rs886047954
NM_001374353.1(GLI2):c.*1330_*1331insCTACAC rs886054822
NM_001374353.1(GLI2):c.*1376_*1377insACACCCC rs1553480327
NM_001374353.1(GLI2):c.*1376_*1377insACCC rs1553480327
NM_001374353.1(GLI2):c.*1376_*1377insACCCCC rs1553480327
NM_001374353.1(GLI2):c.*1376_*1379dup rs1553480328
NM_001374353.1(GLI2):c.*1837_*1840dup rs558203417
NM_001374353.1(GLI2):c.*81_*82del rs886054819
NM_003244.3(TGIF1):c.123C>T (p.Asn41=) rs138292737
NM_003923.2(FOXH1):c.-136delC rs569877410
NM_003923.2(FOXH1):c.-206C>T rs886062756
NM_003923.2(FOXH1):c.-280G>A rs886062757
NM_003923.2(FOXH1):c.-446T>C rs886062758
NM_003923.2(FOXH1):c.-506G>A rs886062759
NM_003923.3(FOXH1):c.*172C>G rs148389554
NM_003923.3(FOXH1):c.*21C>A
NM_003923.3(FOXH1):c.*237_*239del rs550365735
NM_003923.3(FOXH1):c.*322C>A
NM_003923.3(FOXH1):c.*354C>T
NM_003923.3(FOXH1):c.*382C>T
NM_003923.3(FOXH1):c.*423G>A
NM_003923.3(FOXH1):c.*430G>A
NM_003923.3(FOXH1):c.*436G>A
NM_003923.3(FOXH1):c.*451C>T rs886062751
NM_003923.3(FOXH1):c.*74G>A rs562738425
NM_003923.3(FOXH1):c.*88A>G
NM_003923.3(FOXH1):c.-53G>A
NM_003923.3(FOXH1):c.1004C>T (p.Pro335Leu) rs1421316442
NM_003923.3(FOXH1):c.1024G>A (p.Asp342Asn) rs536501327
NM_003923.3(FOXH1):c.1049A>G (p.Asp350Gly) rs138792321
NM_003923.3(FOXH1):c.1056G>A (p.Ala352=)
NM_003923.3(FOXH1):c.13A>T (p.Ser5Cys)
NM_003923.3(FOXH1):c.182G>A (p.Arg61His)
NM_003923.3(FOXH1):c.260C>G (p.Ser87Cys) rs886062755
NM_003923.3(FOXH1):c.386G>A (p.Arg129Gln) rs149905713
NM_003923.3(FOXH1):c.389G>A (p.Arg130His) rs886062754
NM_003923.3(FOXH1):c.406G>T (p.Ala136Ser)
NM_003923.3(FOXH1):c.442G>A (p.Val148Met) rs886062753
NM_003923.3(FOXH1):c.44A>T (p.Glu15Val)
NM_003923.3(FOXH1):c.473G>C (p.Ser158Thr)
NM_003923.3(FOXH1):c.478C>G (p.Pro160Ala)
NM_003923.3(FOXH1):c.557C>T (p.Ala186Val)
NM_003923.3(FOXH1):c.572C>T (p.Pro191Leu)
NM_003923.3(FOXH1):c.577C>A (p.Pro193Thr) rs778695747
NM_003923.3(FOXH1):c.58C>T (p.Pro20Ser) rs778783647
NM_003923.3(FOXH1):c.653C>T (p.Pro218Leu) rs770944195
NM_003923.3(FOXH1):c.700C>T (p.Gln234Ter) rs1564751909
NM_003923.3(FOXH1):c.746C>T (p.Ala249Val) rs1564751833
NM_003923.3(FOXH1):c.776C>T (p.Ala259Val)
NM_003923.3(FOXH1):c.785G>T (p.Gly262Val) rs886062752
NM_003923.3(FOXH1):c.794C>A (p.Ser265Tyr) rs769660425
NM_003923.3(FOXH1):c.812C>T (p.Ala271Val)
NM_003923.3(FOXH1):c.81G>A (p.Arg27=)
NM_003923.3(FOXH1):c.933G>C (p.Trp311Cys) rs140090667
NM_003923.3(FOXH1):c.965G>T (p.Gly322Val)
NM_003923.3(FOXH1):c.974G>A (p.Cys325Tyr) rs770253235
NM_005270.4(GLI2):c.*1331_*1332insCACACA rs1349034466
NM_005270.4(GLI2):c.*1369_*1376dupACACACAC rs59277032
NM_005270.4(GLI2):c.*1371_*1376delACACAC rs59277032
NM_005270.4(GLI2):c.*1371_*1376dupACACAC rs59277032
NM_005270.4(GLI2):c.*1373_*1376delACAC rs59277032
NM_005270.4(GLI2):c.*1373_*1376dupACAC rs59277032
NM_005270.4(GLI2):c.*1375_*1376delAC rs59277032
NM_005270.4(GLI2):c.*1375_*1376dupAC rs59277032
NM_005618.4(DLL1):c.1802_1804del (p.Asp601_Ile602delinsVal) rs573197356
NM_016284.5(CNOT1):c.1603C>T (p.Arg535Cys) rs1567417422
NM_016952.4(CDON):c.*1310dup rs886047972
NM_016952.4(CDON):c.*1506dup rs886047969
NM_016952.4(CDON):c.*1508A>G rs886047968
NM_016952.4(CDON):c.*2283_*2285del rs879891676
NM_016952.4(CDON):c.*2345_*2349delinsAACACACACAC rs886047960
NM_016952.4(CDON):c.*2345_*2349delinsAACACACACACAC rs886047960
NM_016952.4(CDON):c.*2373_*2378del rs886047957
NM_016952.4(CDON):c.*2376_*2377insCACACACACACACACATATA rs371911236
NM_016952.4(CDON):c.*2376_*2377insCACACACACACATA rs371911236
NM_016952.4(CDON):c.*2376_*2377insCACACACACATA rs371911236
NM_016952.4(CDON):c.*2376_*2377insCACACACACATATA rs371911236
NM_016952.4(CDON):c.*2376_*2377insCACACACATA rs371911236
NM_016952.4(CDON):c.*2376_*2377insCACACACATATA rs371911236
NM_016952.4(CDON):c.*2376_*2377insCACACATATA rs371911236
NM_016952.4(CDON):c.*2376_*2377insCACACATATATA rs371911236
NM_016952.4(CDON):c.*2376_*2377insCACATA rs371911236
NM_016952.4(CDON):c.*2376_*2377insCACATATATA rs371911236
NM_016952.4(CDON):c.*2376_*2377insCATA rs371911236
NM_016952.4(CDON):c.*2376_*2377insCATATA rs371911236
NM_016952.4(CDON):c.*2377_*2379delinsCACACACACAC rs886047956
NM_016952.4(CDON):c.*2377_*2379delinsCACACACACACACAC rs886047956
NM_016952.4(CDON):c.*2377delinsCACACACACACACAC rs886047958
NM_016952.4(CDON):c.*2377delinsCACACACACACACACAC rs886047958
NM_016952.4(CDON):c.*2378_*2379insCA rs886047955
NM_016952.4(CDON):c.*2380_*2381insCA rs886047954
NM_016952.4(CDON):c.*2380_*2381insCACA rs886047954
NM_016952.4(CDON):c.*3522_*3523del rs886047944
NM_016952.4(CDON):c.*609dup rs111312273
NM_016952.4(CDON):c.-61-15del rs886047980
NM_016952.4(CDON):c.-61-9_-61-7del rs557544550
NM_016952.4(CDON):c.1553-17TC[3] rs762936563
NM_016952.4(CDON):c.2429C>G (p.Ser810Cys) rs746038393
NM_018055.5(NODAL):c.*121C>A rs578069296
NM_018055.5(NODAL):c.*125A>C
NM_018055.5(NODAL):c.*328G>A
NM_018055.5(NODAL):c.*329A>C
NM_018055.5(NODAL):c.*360A>G
NM_018055.5(NODAL):c.*480G>A rs886047101
NM_018055.5(NODAL):c.*676C>T rs886047100
NM_018055.5(NODAL):c.*678G>A rs374692279
NM_018055.5(NODAL):c.*729A>G
NM_018055.5(NODAL):c.*747dup rs886047099
NM_018055.5(NODAL):c.*820G>C
NM_018055.5(NODAL):c.*829T>G
NM_018055.5(NODAL):c.*836G>C rs886047098
NM_018055.5(NODAL):c.*887C>T rs553447349
NM_018055.5(NODAL):c.-9C>T rs756480830
NM_018055.5(NODAL):c.125C>T (p.Ala42Val) rs146471900
NM_018055.5(NODAL):c.203T>C (p.Val68Ala) rs886047105
NM_018055.5(NODAL):c.221C>T (p.Thr74Met) rs886047104
NM_018055.5(NODAL):c.280C>T (p.Arg94Trp) rs778607015
NM_018055.5(NODAL):c.393G>C (p.Arg131=) rs765235855
NM_018055.5(NODAL):c.467C>T (p.Thr156Ile)
NM_018055.5(NODAL):c.512A>T (p.Lys171Met)
NM_018055.5(NODAL):c.514C>G (p.Gln172Glu) rs886047102
NM_018055.5(NODAL):c.550C>T (p.Pro184Ser) rs752979542
NM_018055.5(NODAL):c.555C>A (p.Pro185=)
NM_018055.5(NODAL):c.593C>A (p.Ser198Tyr) rs377663429
NM_018055.5(NODAL):c.670G>A (p.Glu224Lys)
NM_018055.5(NODAL):c.702G>A (p.Arg234=)
NM_018055.5(NODAL):c.819C>G (p.Ala273=)
NM_018055.5(NODAL):c.972G>A (p.Leu324=) rs143903715
NM_032890.5(DISP1):c.743C>T (p.Ala248Val) rs1029577112
NM_033164.4(FGF8):c.464A>G (p.Asn155Ser) rs778082287
NM_033164.4(FGF8):c.86_103dup (p.Gly29_Arg34dup) rs762175290
NM_033254.4(BOC):c.1667G>A (p.Gly556Glu) rs1553745274
NM_173208.2(TGIF1):c.*133A>G rs886053783
NM_173208.2(TGIF1):c.*336T>C rs886053785

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.