ClinVar Miner

List of variants reported as likely pathogenic for Short stature

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Total variants: 73
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HGVS dbSNP
NM_001014447.3(CPZ):c.1321G>T (p.Gly441Trp) rs775707132
NM_001014447.3(CPZ):c.493C>T (p.Arg165Trp) rs375633720
NM_001080481.2(USP45):c.1567A>G (p.Ser523Gly) rs1562308994
NM_001080481.2(USP45):c.178T>G (p.Ser60Ala) rs1562456317
NM_001080481.2(USP45):c.727G>A (p.Val243Met) rs1562391520
NM_001105079.3(FBRS):c.2137G>A (p.Gly713Ser) rs1567547614
NM_001105079.3(FBRS):c.2896C>G (p.Pro966Ala) rs1259852690
NM_001142966.2(GREB1L):c.111T>G (p.Phe37Leu) rs1567966432
NM_001142966.2(GREB1L):c.988C>T (p.Arg330Trp) rs377314861
NM_001271223.2(OBSCN):c.7595C>T (p.Ala2532Val) rs1480591236
NM_001271223.2(OBSCN):c.8582C>T (p.Thr2861Met) rs747262678
NM_001466.4(FZD2):c.1403T>G (p.Leu468Arg) rs1568105562
NM_001704.3(ADGRB3):c.2294T>C (p.Val765Ala) rs1562137453
NM_001704.3(ADGRB3):c.4298G>A (p.Arg1433Lys) rs1562005199
NM_002862.4(PYGB):c.2047A>G (p.Met683Val) rs201805961
NM_003601.4(SMARCA5):c.940A>C (p.Lys314Gln) rs1560814874
NM_003862.3(FGF18):c.211C>T (p.Arg71Cys) rs1441510334
NM_004362.3(CLGN):c.386C>A (p.Pro129Gln) rs1560743601
NM_004362.3(CLGN):c.731A>G (p.Asp244Gly) rs201306926
NM_004362.3(CLGN):c.959A>G (p.Lys320Arg) rs1560739587
NM_004979.6(KCND1):c.1468-8G>T rs376253982
NM_004979.6(KCND1):c.1774C>T (p.Arg592Trp) rs1230432769
NM_005560.5(LAMA5):c.10322C>T (p.Thr3441Met) rs200093098
NM_005560.5(LAMA5):c.3244C>A (p.Pro1082Thr) rs766464011
NM_005560.5(LAMA5):c.6101A>G (p.Asp2034Gly) rs773956500
NM_005560.5(LAMA5):c.6301G>A (p.Glu2101Lys) rs370433088
NM_006307.5(SRPX):c.731G>C (p.Arg244Thr) rs756386867
NM_006767.4(LZTR1):c.62G>C (p.Arg21Pro) rs1469540056
NM_006885.4(ZFHX3):c.3757C>T (p.Arg1253Cys) rs769603301
NM_007368.4(RASA3):c.254T>C (p.Val85Ala) rs1566529937
NM_012090.5(MACF1):c.16058G>A (p.Arg5353His) rs755081350
NM_012090.5(MACF1):c.3842G>A (p.Arg1281Gln) rs559634261
NM_012244.4(SLC7A8):c.730G>A (p.Ala244Thr) rs752482499
NM_012244.4(SLC7A8):c.851A>G (p.Asn284Ser) rs759951698
NM_013943.3(CLIC4):c.220C>T (p.His74Tyr) rs1557810606
NM_014055.4(IFT81):c.1150C>T (p.Arg384Cys) rs143130309
NM_014055.4(IFT81):c.259C>T (p.Arg87Cys) rs761469100
NM_014815.4(MED24):c.1247C>G (p.Thr416Ser) rs1568162263
NM_014815.4(MED24):c.2288G>A (p.Arg763Gln) rs760297650
NM_014856.3(DENND4B):c.1825C>T (p.Leu609Phe) rs1557853919
NM_015009.3(PDZRN3):c.1417-10T>C rs778037798
NM_015009.3(PDZRN3):c.2101A>C (p.Ser701Arg) rs747762087
NM_015306.3(USP24):c.7448-7C>T rs1557523211
NM_015311.3(OBSL1):c.690dup (p.Glu231fs) rs1553538488
NM_016436.5(PHF20):c.2593G>A (p.Asp865Asn) rs771829423
NM_016436.5(PHF20):c.890C>T (p.Pro297Leu) rs1456887132
NM_017514.5(PLXNA3):c.1623G>C (p.Gln541His) rs782515431
NM_017514.5(PLXNA3):c.56G>A (p.Gly19Asp) rs202070666
NM_017999.5(RNF31):c.2333A>G (p.Tyr778Cys) rs1566615893
NM_017999.5(RNF31):c.2480G>A (p.Arg827His) rs377035972
NM_018031.6(WDR6):c.2543G>A (p.Arg848His) rs150300426
NM_020744.3(MTA3):c.635G>A (p.Cys212Tyr) rs1558553140
NM_020765.3(UBR4):c.10388G>A (p.Arg3463His) rs747867083
NM_020765.3(UBR4):c.13828C>A (p.Pro4610Thr) rs761960636
NM_020765.3(UBR4):c.4045C>G (p.Arg1349Gly) rs776593168
NM_020765.3(UBR4):c.6325G>A (p.Gly2109Ser) rs144709443
NM_020765.3(UBR4):c.7031A>G (p.Asn2344Ser) rs748323629
NM_020884.5(MYH7B):c.3112G>A (p.Val1038Met) rs1430282035
NM_024899.4(CEP76):c.1874G>A (p.Arg625His) rs1363884891
NM_025130.4(HKDC1):c.1009C>T (p.Arg337Trp) rs148723879
NM_025130.4(HKDC1):c.1088C>T (p.Pro363Leu) rs200034765
NM_025130.4(HKDC1):c.301G>T (p.Gly101Trp) rs1564726619
NM_025191.4(EDEM3):c.1204T>G (p.Leu402Val) rs1558053119
NM_025191.4(EDEM3):c.2431G>T (p.Asp811Tyr) rs765435034
NM_032410.4(HOOK3):c.1150G>A (p.Glu384Lys) rs747141054
NM_032410.4(HOOK3):c.225T>G (p.Asn75Lys) rs1563293555
NM_058243.2(BRD4):c.1856G>T (p.Ser619Ile) rs1568383758
NM_133178.4(PTPRU):c.2531C>T (p.Pro844Leu) rs559788899
NM_133178.4(PTPRU):c.4165A>C (p.Met1389Leu) rs540351799
NM_144982.5(ZFC3H1):c.5885T>C (p.Leu1962Pro) rs1565798439
NM_144982.5(ZFC3H1):c.947G>A (p.Arg316His) rs767539150
NM_173628.3(DNAH17):c.3766G>A (p.Gly1256Arg) rs768564744
NM_173628.3(DNAH17):c.6563G>A (p.Arg2188Gln) rs763505389

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