List of variants in gene CNTNAP2 reported as likely pathogenic

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 51

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HGVS	dbSNP	gnomAD frequency
NM_014141.6(CNTNAP2):c.3716-2A>G	rs746894028	0.00006
NM_014141.6(CNTNAP2):c.1634C>T (p.Ala545Val)	rs771772546	0.00005
NM_014141.6(CNTNAP2):c.1447C>T (p.Arg483Ter)	rs752550849	0.00001
NM_014141.6(CNTNAP2):c.2497del (p.Trp833fs)	rs1391540245	0.00001
NM_014141.6(CNTNAP2):c.3283C>T (p.Arg1095Ter)	rs771533907	0.00001
GRCh37/hg19 7q35(chr7:146333770-146445991)x1
GRCh37/hg19 7q35(chr7:147006667-147101307)x1
GRCh38/hg38 7q35(chr7:146649010-146778666)x1
GRCh38/hg38 7q35(chr7:147044014-147073985)x1
NC_000007.13:g.(146536997_146740998)_(146829602_146997232)del
NC_000007.13:g.(147600814_147674953)_(147675082_147815209)del
NC_000007.13:g.(?_146471343)_(146537016_?)dup
NC_000007.13:g.(?_146536783)_(146537016_?)dup
NC_000007.13:g.(?_146740979)_(146829621_?)dup
NC_000007.13:g.(?_146740989)_(146997392_?)dup
NC_000007.13:g.(?_147600637)_(147600833_?)dup
NC_000007.14:g.(?_146774251)_(146774401_?)del
NC_000007.14:g.(?_147977842)_(147978009_?)dup
NM_014141.6(CNTNAP2):c.1084-2A>C
NM_014141.6(CNTNAP2):c.1348+1G>A
NM_014141.6(CNTNAP2):c.1349-1G>A
NM_014141.6(CNTNAP2):c.1349-2A>G	rs1433216677
NM_014141.6(CNTNAP2):c.1361_1362del (p.Asn454fs)	rs1794916576
NM_014141.6(CNTNAP2):c.1651_1652del (p.Met551fs)	rs1064796071
NM_014141.6(CNTNAP2):c.1723del (p.Ser575fs)	rs2116638179
NM_014141.6(CNTNAP2):c.1777+2T>C
NM_014141.6(CNTNAP2):c.1778-1G>C	rs1396313317
NM_014141.6(CNTNAP2):c.1785C>G (p.Tyr595Ter)	rs781574808
NM_014141.6(CNTNAP2):c.208+1G>A
NM_014141.6(CNTNAP2):c.2096dup (p.Asp700fs)	rs1554416016
NM_014141.6(CNTNAP2):c.2391T>G (p.Tyr797Ter)	rs562833882
NM_014141.6(CNTNAP2):c.252G>A (p.Trp84Ter)	rs267601384
NM_014141.6(CNTNAP2):c.2569_2572delinsCCC (p.Ser857fs)	rs1585151371
NM_014141.6(CNTNAP2):c.2646G>A (p.Trp882Ter)	rs1247068015
NM_014141.6(CNTNAP2):c.3028G>T (p.Glu1010Ter)
NM_014141.6(CNTNAP2):c.3262C>T (p.Arg1088Ter)	rs766777011
NM_014141.6(CNTNAP2):c.3331C>T (p.Gln1111Ter)	rs1159246607
NM_014141.6(CNTNAP2):c.3345_3381+346del
NM_014141.6(CNTNAP2):c.3382-2A>C	rs1085307838
NM_014141.6(CNTNAP2):c.3385G>C (p.Asp1129His)
NM_014141.6(CNTNAP2):c.3407_3411del (p.Tyr1136fs)
NM_014141.6(CNTNAP2):c.3657_3669dup (p.Met1224fs)	rs770489662
NM_014141.6(CNTNAP2):c.3922_3970dup (p.Glu1324delinsGlyArgArgHisHisGluGlnArgProGlnLeuHisArgAspHisTer)	rs757043221
NM_014141.6(CNTNAP2):c.402+1G>C	rs767408882
NM_014141.6(CNTNAP2):c.498G>A (p.Trp166Ter)	rs1176180722
NM_014141.6(CNTNAP2):c.5_8dup (p.Ala4fs)	rs1797490749
NM_014141.6(CNTNAP2):c.686_688del (p.Glu229del)	rs2129279561
NM_014141.6(CNTNAP2):c.778_782delinsGGGA (p.Tyr260fs)	rs1554440668
NM_014141.6(CNTNAP2):c.97+1G>A	rs972116002
NM_014141.6(CNTNAP2):c.97+3A>T	rs1584757170
NM_014141.6(CNTNAP2):c.98-1G>A	rs2129185949

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