ClinVar for Gene (Select 8573) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3137491	NM_001367721.1(CASK):c.901A>G (p.Arg301Gly)	CASK (R301G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3137490	NM_001367721.1(CASK):c.2375C>G (p.Ser792Cys)	CASK (S764C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3101872	NM_080817.5(GPR82):c.928C>A (p.Leu310Ile)	CASK, GPR82 (L310I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101871	NM_080817.5(GPR82):c.876C>G (p.Asn292Lys)	CASK, GPR82 (N292K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101870	NM_080817.5(GPR82):c.691A>G (p.Ile231Val)	GPR82, CASK (I231V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101869	NM_080817.5(GPR82):c.602T>C (p.Ile201Thr)	CASK, GPR82 (I201T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3101868	NM_080817.5(GPR82):c.517T>C (p.Tyr173His)	CASK, GPR82 (Y173H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101867	NM_080817.5(GPR82):c.443A>G (p.Gln148Arg)	CASK, GPR82 (Q148R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101727	NM_001097579.2(GPR34):c.8G>A (p.Ser3Asn)	CASK, GPR34 (S3N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101726	NM_001097579.2(GPR34):c.796C>T (p.Arg266Cys)	CASK, GPR34 (R266C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101725	NM_001097579.2(GPR34):c.599A>G (p.Asn200Ser)	CASK, GPR34 (N200S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3075664	NM_001367721.1(CASK):c.1843-1G>A	CASK	Single nucleotide variant (splice acceptor variant)	Syndromic X-linked intellectual disability Najm type +1 more	GPathogenic
Select item 3068646	NM_001367721.1(CASK):c.2521-11del	CASK	Deletion (intron variant)	FG syndrome	GBenign
Select item 3068378	NM_001367721.1(CASK):c.539T>A (p.Val180Asp)	CASK (V180D)	Single nucleotide variant (missense variant)	FG syndrome 4	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062502	GRCh37/hg19 Xp11.4(chrX:41483585-41636324)	CASK, GPR34 +1 more	Copy number loss	not specified	GUncertain significance
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3062309	NM_001367721.1(CASK):c.173-1G>A	CASK	Single nucleotide variant (splice acceptor variant)	Syndromic X-linked intellectual disability Najm type	GLikely pathogenic
Select item 3036853	NM_001367721.1(CASK):c.885G>A (p.Leu295=)	CASK	Single nucleotide variant (synonymous variant)	CASK-related disorder	GLikely benign
Select item 3019930	NM_001367721.1(CASK):c.1535A>G (p.His512Arg)	CASK (H506R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 3009985	NM_001367721.1(CASK):c.2237-12T>G	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 3008101	NM_001367721.1(CASK):c.1314+20C>A	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GBenign
Select item 2995984	NM_001367721.1(CASK):c.1253G>A (p.Cys418Tyr)	CASK (C412Y +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 2991596	NM_001367721.1(CASK):c.2318-12G>T	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2987441	NM_001367721.1(CASK):c.510G>A (p.Gly170=)	CASK	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2985591	NM_001367721.1(CASK):c.1582+12A>G	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2985590	NM_001367721.1(CASK):c.2236+13G>C	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2983727	NM_001367721.1(CASK):c.2076G>C (p.Gln692His)	CASK (Q663H +3 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 2973023	NM_001367721.1(CASK):c.60-3T>C	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 2969236	NM_001367721.1(CASK):c.1233+8A>G	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GBenign
Select item 2967796	NM_001367721.1(CASK):c.798T>G (p.Thr266=)	CASK	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked	GBenign
Select item 2966805	NM_001367721.1(CASK):c.972C>T (p.Pro324=)	CASK	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked	GBenign
Select item 2966790	NM_001367721.1(CASK):c.1715G>A (p.Arg572His)	CASK (R566H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 2964219	NM_001367721.1(CASK):c.315G>A (p.Lys105=)	CASK	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2963478	NM_001367721.1(CASK):c.2318-10G>A	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2959265	NM_001367721.1(CASK):c.1315G>A (p.Ala439Thr)	CASK (A439T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 2920701	NM_001367721.1(CASK):c.1994A>G (p.Lys665Arg)	CASK (K665R +3 more)	Single nucleotide variant (missense variant)	Developmental disorder	GLikely benign
Select item 2920666	NC_000023.11:g.(41853228_41922929)(41923555_?)del	CASK	Deletion	Syndromic X-linked intellectual disability Najm type	GPathogenic
Select item 2920664	NM_001367721.1(CASK):c.704_708delATAAG (p.Lys236fs)	CASK (K236fs)	Deletion (frameshift variant)	Syndromic X-linked intellectual disability Najm type	GPathogenic
Select item 2919753	NM_001367721.1(CASK):c.2318-16C>T	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2915919	NM_001367721.1(CASK):c.831+18G>T	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2910246	NM_001367721.1(CASK):c.2317+14C>T	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GBenign
Select item 2903127	NM_001367721.1(CASK):c.173-12T>C	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2902326	NM_001367721.1(CASK):c.2155+5_2155+6del	CASK	Deletion (intron variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 2900665	NM_001367721.1(CASK):c.324C>T (p.Asp108=)	CASK	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked	GBenign
Select item 2900480	NM_001367721.1(CASK):c.1619A>G (p.Asn540Ser)	CASK (N534S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 2893586	NM_001367721.1(CASK):c.2634G>A (p.Glu878=)	CASK	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2881114	NM_001367721.1(CASK):c.957A>G (p.Ser319=)	CASK	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2880671	NM_001367721.1(CASK):c.1503+17A>C	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2879051	NM_001367721.1(CASK):c.1233+10A>G	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2876432	NM_001367721.1(CASK):c.1034-16T>C	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2875949	NM_001367721.1(CASK):c.173-17G>A	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2871226	NM_001367721.1(CASK):c.832-4A>G	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked +1 more	GLikely benign
Select item 2870803	NM_001367721.1(CASK):c.1504-12T>A	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2863482	NM_001367721.1(CASK):c.348T>A (p.Ala116=)	CASK	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2863422	NM_001367721.1(CASK):c.1251A>G (p.Ser417=)	CASK	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2858434	NM_001367721.1(CASK):c.2718G>A (p.Leu906=)	CASK	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2851405	NM_001367721.1(CASK):c.1294T>G (p.Leu432Val)	CASK (L426V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 2846684	NM_001367721.1(CASK):c.1016-20A>G	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2843721	NM_001367721.1(CASK):c.1804T>G (p.Ser602Ala)	CASK (S596A +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2842218	NM_001367721.1(CASK):c.541G>A (p.Gly181Arg)	CASK (G181R)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 2841899	NM_001367721.1(CASK):c.2213A>C (p.Lys738Thr)	CASK (K710T +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GBenign
Select item 2840794	NM_001367721.1(CASK):c.1101C>T (p.Asp367=)	CASK	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2840571	NM_001367721.1(CASK):c.1663del (p.Met555fs)	CASK (M549fs +1 more)	Deletion (frameshift variant)	Intellectual disability, CASK-related, X-linked	GPathogenic
Select item 2838508	NM_001367721.1(CASK):c.533-10T>G	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2835439	NM_001367721.1(CASK):c.62G>T (p.Gly21Val)	CASK (G21V)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 2835008	NM_001367721.1(CASK):c.356+18A>G	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2834195	NM_001367721.1(CASK):c.424G>A (p.Val142Met)	CASK (V142M)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 2832139	NM_001367721.1(CASK):c.1451A>G (p.Asn484Ser)	CASK (N484S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 2831924	NM_001367721.1(CASK):c.1155+9G>A	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2828822	NM_001367721.1(CASK):c.274G>A (p.Glu92Lys)	CASK (E92K)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 2826589	NM_001367721.1(CASK):c.2442G>T (p.Ala814=)	CASK	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2825882	NM_001367721.1(CASK):c.166A>G (p.Thr56Ala)	CASK (T56A)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GBenign
Select item 2823036	NM_001367721.1(CASK):c.709-6C>T	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2819889	NM_001367721.1(CASK):c.1116C>G (p.His372Gln)	CASK (H366Q +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 2818789	NM_001367721.1(CASK):c.2658T>C (p.Tyr886=)	CASK	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2818338	NM_001367721.1(CASK):c.1279G>A (p.Glu427Lys)	CASK (E427K +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 2816282	NM_001367721.1(CASK):c.1127A>G (p.Gln376Arg)	CASK (Q370R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 2815824	NM_001367721.1(CASK):c.532+2T>C	CASK	Single nucleotide variant (splice donor variant)	Intellectual disability, CASK-related, X-linked	GLikely pathogenic
Select item 2815347	NM_001367721.1(CASK):c.1186C>G (p.Pro396Ala)	CASK (P390A +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 2814577	NM_001367721.1(CASK):c.2236+11T>C	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2813359	NM_001367721.1(CASK):c.2604+20T>C	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2808565	NM_001367721.1(CASK):c.430-14G>A	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2806683	NM_001367721.1(CASK):c.1241A>C (p.Glu414Ala)	CASK (E408A +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 2804478	NM_001367721.1(CASK):c.2155+19G>C	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2803106	NM_001367721.1(CASK):c.536G>A (p.Arg179His)	CASK (R179H)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 2801480	NM_001367721.1(CASK):c.1737+11dup	CASK	Duplication (intron variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2798048	NM_001367721.1(CASK):c.2236+6T>G	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 2794695	NM_001367721.1(CASK):c.2573C>T (p.Ala858Val)	CASK (A852V +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 2786025	NM_001367721.1(CASK):c.533-15T>C	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2785029	NM_001367721.1(CASK):c.1669-8C>T	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2784075	NM_001367721.1(CASK):c.2691T>G (p.Asn897Lys)	CASK (N868K +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GBenign
Select item 2783455	NM_001367721.1(CASK):c.2047G>T (p.Ala683Ser)	CASK (A660S +3 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 2772197	NM_001367721.1(CASK):c.1790C>G (p.Thr597Ser)	CASK (T591S +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 2770582	NM_001367721.1(CASK):c.612G>C (p.Gly204=)	CASK	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2766122	NM_001367721.1(CASK):c.2449G>A (p.Gly817Arg)	CASK (G817R +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 2763139	NM_001367721.1(CASK):c.1315-1G>A	CASK	Single nucleotide variant (splice acceptor variant)	Intellectual disability, CASK-related, X-linked	GLikely pathogenic
Select item 2761707	NM_001367721.1(CASK):c.1386T>C (p.Pro462=)	CASK	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2759567	NM_001367721.1(CASK):c.1234-3dup	CASK	Duplication (intron variant)	Intellectual disability, CASK-related, X-linked	GBenign
Select item 2758906	NM_001367721.1(CASK):c.1816T>C (p.Ser606Pro)	CASK (S600P +3 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance

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