CA4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 57542	GRCh38/hg38 17q23.1-23.2(chr17:60043448-62148729)x1	APPBP2, APPBP2-DT +61 more	Copy number loss	See cases	GPathogenic
Select item 57455	GRCh38/hg38 17q23.1-23.2(chr17:60095339-62237942)x1	APPBP2, APPBP2-DT +56 more	Copy number loss	See cases	GPathogenic
Select item 324223	NM_000717.4(CA4):c.-76G>C	CA4	Single nucleotide variant	Retinitis Pigmentosa, Dominant	GLikely benign
Select item 324224	NM_000717.5(CA4):c.-47C>G	CA4	Single nucleotide variant (5 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GBenign
Select item 324225	NM_000717.5(CA4):c.-24G>C	CA4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1386727	NM_000717.5(CA4):c.5_10del (p.Arg2_Met3del)	CA4	Deletion (inframe_deletion +2 more)	not provided	GUncertain significance
Select item 1513812	NM_000717.5(CA4):c.3G>A (p.Met1Ile)	CA4 (M1I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1100445	NM_000717.5(CA4):c.4C>A (p.Arg2=)	CA4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2987323	NM_000717.5(CA4):c.6G>A (p.Arg2=)	CA4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3136130	NM_000717.5(CA4):c.8T>C (p.Met3Thr)	CA4 (M3T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2094172	NM_000717.5(CA4):c.11T>C (p.Leu4Pro)	CA4 (L4P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2803344	NM_000717.5(CA4):c.17C>T (p.Ala6Val)	CA4 (A6V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1642271	NM_000717.5(CA4):c.27C>G (p.Ala9=)	CA4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1669547	NM_000717.5(CA4):c.33C>G (p.Ser11=)	CA4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1061046	NM_000717.5(CA4):c.34G>A (p.Ala12Thr)	CA4 (A12T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 17607	NM_000717.5(CA4):c.40C>T (p.Arg14Trp)	CA4 (R14W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1483308	NM_000717.5(CA4):c.55G>A (p.Ala19Thr)	CA4 (A19T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2095265	NM_000717.5(CA4):c.58G>T (p.Glu20Ter)	CA4 (E20*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1109756	NM_000717.5(CA4):c.58+10C>A	CA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 736549	NM_000717.5(CA4):c.58+10C>G	CA4	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1565702	NM_000717.5(CA4):c.58+17C>G	CA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1940166	NM_000717.5(CA4):c.58+18G>A	CA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1170906	NM_000717.5(CA4):c.58+18G>C	CA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2999269	NM_000717.5(CA4):c.59-13C>T	CA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1540521	NM_000717.5(CA4):c.59-13C>G	CA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1160431	NM_000717.5(CA4):c.59-6C>T	CA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1369502	NM_000717.5(CA4):c.59A>C (p.Glu20Ala)	CA4 (E20A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1488345	NM_000717.5(CA4):c.71G>A (p.Cys24Tyr)	CA4 (C24Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1529754	NM_000717.5(CA4):c.72C>T (p.Cys24=)	CA4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2152291	NM_000717.5(CA4):c.74A>G (p.Tyr25Cys)	CA4 (Y25C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1669094	NM_000717.5(CA4):c.75C>T (p.Tyr25=)	CA4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1470581	NM_000717.5(CA4):c.76G>A (p.Glu26Lys)	CA4 (E26K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1154893	NM_000717.5(CA4):c.87C>T (p.Ala29=)	CA4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 618549	NM_000717.5(CA4):c.90G>C (p.Glu30Asp)	CA4 (E30D)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1578097	NM_000717.5(CA4):c.102C>T (p.Tyr34=)	CA4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1519203	NM_000717.5(CA4):c.102C>A (p.Tyr34Ter)	CA4 (Y34*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1019859	NM_000717.5(CA4):c.103C>T (p.Pro35Ser)	CA4 (P35S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1154463	NM_000717.5(CA4):c.105C>T (p.Pro35=)	CA4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2430573	NM_000717.5(CA4):c.107G>T (p.Cys36Phe)	CA4 (C36F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2974853	NM_000717.5(CA4):c.111G>A (p.Leu37=)	CA4	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1479585	NM_000717.5(CA4):c.112+1G>A	CA4	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1644355	NM_000717.5(CA4):c.112+14G>T	CA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1645162	NM_000717.5(CA4):c.112+17C>A	CA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973828	NM_000717.5(CA4):c.112+22del	CA4	Deletion (intron variant)	not provided	GBenign
Select item 1649875	NM_000717.5(CA4):c.113-17C>T	CA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1117880	NM_000717.5(CA4):c.113-9C>T	CA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1143513	NM_000717.5(CA4):c.113-8C>T	CA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1910917	NM_000717.5(CA4):c.113-2A>C	CA4	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 849484	NM_000717.5(CA4):c.115C>T (p.Pro39Ser)	CA4 (P39S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1561176	NM_000717.5(CA4):c.120C>T (p.Val40=)	CA4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2409695	NM_000717.5(CA4):c.126G>T (p.Trp42Cys)	CA4 (W42C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 890022	NM_000717.5(CA4):c.128G>T (p.Gly43Val)	CA4 (G43V)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa	GLikely benign
Select item 2075217	NM_000717.5(CA4):c.129T>A (p.Gly43=)	CA4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1450433	NM_000717.5(CA4):c.131G>A (p.Gly44Glu)	CA4 (G44E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1465031	NM_000717.5(CA4):c.136T>G (p.Cys46Gly)	CA4 (C46G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1416341	NM_000717.5(CA4):c.148C>T (p.Arg50Cys)	CA4 (R50C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 937124	NM_000717.5(CA4):c.148C>A (p.Arg50Ser)	CA4 (R50S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1017407	NM_000717.5(CA4):c.149G>A (p.Arg50His)	CA4 (R50H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1003522	NM_000717.5(CA4):c.149G>C (p.Arg50Pro)	CA4 (R50P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1908525	NM_000717.5(CA4):c.150C>G (p.Arg50=)	CA4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 890023	NM_000717.5(CA4):c.162C>G (p.Ile54Met)	CA4 (I54M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1113040	NM_000717.5(CA4):c.168C>T (p.Ile56=)	CA4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 937125	NM_000717.5(CA4):c.169G>A (p.Val57Ile)	CA4 (V57I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1570195	NM_000717.5(CA4):c.171C>T (p.Val57=)	CA4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1495489	NM_000717.5(CA4):c.172A>G (p.Thr58Ala)	CA4 (T58A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 741529	NM_000717.5(CA4):c.180G>A (p.Lys60=)	CA4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1914314	NM_000717.5(CA4):c.184A>C (p.Lys62Gln)	CA4 (K62Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1040844	NM_000717.5(CA4):c.190G>A (p.Asp64Asn)	CA4 (D64N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2077912	NM_000717.5(CA4):c.191A>G (p.Asp64Gly)	CA4 (D64G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3028470	NM_000717.5(CA4):c.203G>A (p.Gly68Glu)	CA4 (G68E)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 324226	NM_000717.5(CA4):c.204A>G (p.Gly68=)	CA4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1416001	NM_000717.5(CA4):c.205C>T (p.Arg69Cys)	CA4 (R69C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 17609	NM_000717.5(CA4):c.206G>A (p.Arg69His)	CA4 (R69H)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 957704	NM_000717.5(CA4):c.209TCT[2] (p.Phe72del)	CA4 (F72del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 857503	NM_000717.5(CA4):c.209T>G (p.Phe70Cys)	CA4 (F70C)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 324227	NM_000717.5(CA4):c.210C>A (p.Phe70Leu)	CA4 (F70L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3028471	NM_000717.5(CA4):c.214T>C (p.Phe72Leu)	CA4 (F72L)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 1168012	NM_000717.5(CA4):c.225C>T (p.Tyr75=)	CA4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2854304	NM_000717.5(CA4):c.226G>A (p.Asp76Asn)	CA4 (D76N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 324228	NM_000717.5(CA4):c.235C>A (p.Gln79Lys)	CA4 (Q79K)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +1 more	GLikely benign
Select item 1467597	NM_000717.5(CA4):c.239C>T (p.Thr80Met)	CA4 (T80M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1662718	NM_000717.5(CA4):c.240G>A (p.Thr80=)	CA4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1404380	NM_000717.5(CA4):c.254A>C (p.Asn85Thr)	CA4 (N85T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 324229	NM_000717.5(CA4):c.258C>T (p.Asn86=)	CA4	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1492212	NM_000717.5(CA4):c.259G>A (p.Gly87Arg)	CA4 (G87R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2100197	NM_000717.5(CA4):c.263A>T (p.His88Leu)	CA4 (H88L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2056863	NM_000717.5(CA4):c.268+1G>A	CA4	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1384015	NM_000717.5(CA4):c.268+4G>A	CA4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1572595	NM_000717.5(CA4):c.268+7T>A	CA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1127862	NM_000717.5(CA4):c.268+10A>T	CA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2047804	NM_000717.5(CA4):c.268+11T>C	CA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874734	NM_000717.5(CA4):c.268+17C>A	CA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2009742	NM_000717.5(CA4):c.269-11dup	CA4	Duplication (intron variant)	not provided	GLikely benign
Select item 1714745	NM_000717.5(CA4):c.281T>A (p.Leu94Gln)	CA4 (L94Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2767293	NM_000717.5(CA4):c.285G>A (p.Glu95=)	CA4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 891579	NM_000717.5(CA4):c.288C>T (p.Asn96=)	CA4	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 2547996	NM_000717.5(CA4):c.292G>A (p.Ala98Thr)	CA4 (A98T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1463482	NM_000717.5(CA4):c.302C>T (p.Ser101Phe)	CA4 (S101F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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