ClinVar for Gene (Select 8567) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369027	NM_001376571.1(MADD):c.68C>G (p.Pro23Arg)	MADD (P23R)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 3367632	NM_001376571.1(MADD):c.2255A>G (p.Asp752Gly)	MADD (D530G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3365440	NM_001376571.1(MADD):c.922G>T (p.Ala308Ser)	MADD (A240S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3365253	NM_001376571.1(MADD):c.4870G>A (p.Val1624Ile)	MADD (V1340I +39 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3364696	NM_001376571.1(MADD):c.2807G>A (p.Ser936Asn)	MADD (S694N +14 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3360583	NM_001376571.1(MADD):c.1039G>C (p.Glu347Gln)	MADD (E125Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3356986	NM_001376571.1(MADD):c.3280C>T (p.Arg1094Trp)	MADD (R1006W +16 more)	Single nucleotide variant (missense variant +1 more)	MADD-related disorder	GUncertain significance
Select item 3353100	NM_001376571.1(MADD):c.4195C>T (p.Leu1399=)	MADD	Single nucleotide variant (synonymous variant +2 more)	MADD-related disorder	GLikely benign
Select item 3351509	NM_001376571.1(MADD):c.1600C>T (p.Arg534Trp)	MADD (R312W +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MADD-related disorder	GUncertain significance
Select item 3351075	NM_001376571.1(MADD):c.4012G>A (p.Gly1338Arg)	MADD (G1057R +48 more)	Single nucleotide variant (missense variant +1 more)	MADD-related disorder	GUncertain significance
Select item 3350432	NM_001376571.1(MADD):c.267G>A (p.Thr89=)	MADD	Single nucleotide variant (synonymous variant +2 more)	MADD-related disorder	GLikely benign
Select item 3348287	NM_001376571.1(MADD):c.2591C>A (p.Ser864Ter)	MADD (S642* +7 more)	Single nucleotide variant (nonsense +2 more)	MADD-related disorder	GPathogenic
Select item 3338173	NM_001376571.1(MADD):c.1883A>G (p.Tyr628Cys)	MADD (Y406C +2 more)	Single nucleotide variant (missense variant +1 more)	Autism	GUncertain significance
Select item 3292557	NM_001376571.1(MADD):c.1888G>A (p.Asp630Asn)	MADD (D408N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3292556	NM_001376571.1(MADD):c.4575C>G (p.Ser1525Arg)	MADD (S1410R +50 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3292555	NM_001376571.1(MADD):c.1552C>T (p.Arg518Trp)	MADD (R450W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3292554	NM_001376571.1(MADD):c.188G>T (p.Ser63Ile)	MADD (S63I)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3292553	NM_001376571.1(MADD):c.1942T>C (p.Cys648Arg)	MADD (C426R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3292552	NM_001376571.1(MADD):c.2462A>T (p.Asp821Val)	MADD (D778V +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3292551	NM_001376571.1(MADD):c.1403C>A (p.Thr468Lys)	MADD (T246K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3292549	NM_001376571.1(MADD):c.2813C>A (p.Ser938Tyr)	MADD (S827Y +14 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3292548	NM_001376571.1(MADD):c.2600C>T (p.Thr867Ile)	MADD (T756I +7 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3292547	NM_001376571.1(MADD):c.1750G>A (p.Ala584Thr)	MADD (A362T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3292546	NM_001376571.1(MADD):c.4559A>G (p.Tyr1520Cys)	MADD (Y1309C +50 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3292545	NM_001376571.1(MADD):c.2789C>T (p.Ser930Leu)	MADD (S688L +14 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3292544	NM_001376571.1(MADD):c.740T>C (p.Ile247Thr)	MADD (I179T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3292543	NM_001376571.1(MADD):c.4279G>A (p.Asp1427Asn)	MADD (D1146N +49 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3292542	NM_001376571.1(MADD):c.2309A>G (p.Asn770Ser)	MADD (N770S +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3292541	NM_001376571.1(MADD):c.484C>T (p.Arg162Trp)	MADD (R94W +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3292539	NM_001376571.1(MADD):c.2371A>G (p.Ser791Gly)	MADD (S791G +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3292538	NM_001376571.1(MADD):c.1433A>G (p.Tyr478Cys)	MADD (Y410C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3250658	NM_001376571.1(MADD):c.1062G>A (p.Pro354=)	MADD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3239371	NM_001376571.1(MADD):c.449C>T (p.Thr150Ile)	MADD (T150I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3239212	NM_001376571.1(MADD):c.3234G>A (p.Gly1078=)	MADD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3235739	NM_001376571.1(MADD):c.2868G>A (p.Gln956=)	MADD	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 3122010	NM_001376571.1(MADD):c.949C>G (p.Leu317Val)	MADD (L95V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3122009	NM_001376571.1(MADD):c.946A>G (p.Ile316Val)	MADD (I248V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3122008	NM_001376571.1(MADD):c.922G>A (p.Ala308Thr)	MADD (A240T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3122006	NM_001376571.1(MADD):c.4931C>T (p.Pro1644Leu)	MADD (P1529L +39 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3122005	NM_001376571.1(MADD):c.4886C>T (p.Ser1629Leu)	MADD (S1493L +39 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3122004	NM_001376571.1(MADD):c.4712T>C (p.Met1571Thr)	MADD (M1290T +50 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3122003	NM_001376571.1(MADD):c.4049A>G (p.Asp1350Gly)	MADD (D1247G +48 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3122001	NM_001376571.1(MADD):c.3806G>A (p.Gly1269Asp)	MADD (G1107D +42 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3122000	NM_001376571.1(MADD):c.3520A>G (p.Thr1174Ala)	MADD (T1045A +24 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3121999	NM_001376571.1(MADD):c.3504G>A (p.Thr1168=)	MADD	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3121997	NM_001376571.1(MADD):c.3230G>A (p.Arg1077Gln)	MADD (R1009Q +16 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3121996	NM_001376571.1(MADD):c.3218G>A (p.Gly1073Asp)	MADD (G1010D +16 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3121995	NM_001376571.1(MADD):c.3201_3206del (p.Val1068_Gly1069del)	MADD	Deletion (inframe_deletion +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3121993	NM_001376571.1(MADD):c.3070C>G (p.Gln1024Glu)	MADD (Q1030E +15 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3121992	NM_001376571.1(MADD):c.2980C>T (p.Arg994Trp)	MADD (R1000W +15 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3121991	NM_001376571.1(MADD):c.2900G>A (p.Arg967His)	MADD (R916H +15 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3121990	NM_001376571.1(MADD):c.2768C>T (p.Thr923Ile)	MADD (T681I +14 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3121989	NM_001376571.1(MADD):c.2669C>T (p.Thr890Ile)	MADD (T838I +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3121988	NM_001376571.1(MADD):c.2479C>T (p.Arg827Trp)	MADD (R775W +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3121987	NM_001376571.1(MADD):c.2410C>T (p.Arg804Trp)	MADD (R582W +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3121985	NM_001376571.1(MADD):c.2366G>A (p.Gly789Glu)	MADD (G721E +2 more)	Single nucleotide variant (intron variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3121984	NM_001376571.1(MADD):c.1793A>G (p.Asn598Ser)	MADD (N530S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3121983	NM_001376571.1(MADD):c.1765C>A (p.Pro589Thr)	MADD (P521T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3121981	NM_001376571.1(MADD):c.1337A>G (p.Glu446Gly)	MADD (E224G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3121980	NM_001376571.1(MADD):c.107G>A (p.Arg36Gln)	MADD (R36Q)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3121979	NM_001376571.1(MADD):c.1016T>C (p.Phe339Ser)	MADD (F117S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3065471	NM_001376571.1(MADD):c.1967A>G (p.Asn656Ser)	MADD (N434S +2 more)	Single nucleotide variant (missense variant +2 more)	Deeah syndrome	GLikely pathogenic
Select item 3065470	NM_001376571.1(MADD):c.1966A>T (p.Asn656Tyr)	MADD (N434Y +3 more)	Single nucleotide variant (missense variant +1 more)	Deeah syndrome	GUncertain significance
Select item 3065452	NM_001376571.1(MADD):c.63-2A>G	MADD	Single nucleotide variant (splice acceptor variant +1 more)	Deeah syndrome	GLikely pathogenic
Select item 3058141	NM_001376571.1(MADD):c.4440C>T (p.Tyr1480=)	MADD	Single nucleotide variant (synonymous variant +1 more)	MADD-related disorder	GLikely benign
Select item 3055675	NM_001376571.1(MADD):c.1083A>G (p.Ala361=)	MADD	Single nucleotide variant (synonymous variant +1 more)	MADD-related disorder	GBenign
Select item 3053204	NM_001376571.1(MADD):c.4849-7C>T	MADD	Single nucleotide variant (intron variant)	MADD-related disorder	GLikely benign
Select item 3052343	NM_001376571.1(MADD):c.2938C>T (p.Leu980=)	MADD	Single nucleotide variant (synonymous variant +2 more)	MADD-related disorder	GLikely benign
Select item 3048455	NM_001376571.1(MADD):c.975G>A (p.Gln325=)	MADD	Single nucleotide variant (synonymous variant +1 more)	MADD-related disorder	GLikely benign
Select item 3043351	NM_001376571.1(MADD):c.2502C>T (p.Thr834=)	MADD	Single nucleotide variant (synonymous variant +1 more)	MADD-related disorder	GLikely benign
Select item 3042129	NM_001376571.1(MADD):c.2754T>C (p.Ile918=)	MADD	Single nucleotide variant (synonymous variant +2 more)	MADD-related disorder	GBenign
Select item 3040014	NM_001376571.1(MADD):c.2700C>T (p.Pro900=)	MADD	Single nucleotide variant (synonymous variant +2 more)	MADD-related disorder	GLikely benign
Select item 3037635	NM_001376571.1(MADD):c.2296C>T (p.Arg766Ter)	MADD (R544* +2 more)	Single nucleotide variant (nonsense +2 more)	MADD-related disorder	GBenign
Select item 3035648	NM_001376571.1(MADD):c.4413C>T (p.Ile1471=)	MADD	Single nucleotide variant (synonymous variant +1 more)	MADD-related disorder	GLikely benign
Select item 3035592	NM_001376571.1(MADD):c.3760-6C>T	MADD	Single nucleotide variant (intron variant)	MADD-related disorder	GLikely benign
Select item 3034323	NM_001376571.1(MADD):c.1257A>G (p.Pro419=)	MADD	Single nucleotide variant (synonymous variant +1 more)	MADD-related disorder	GLikely benign
Select item 3026028	NM_001376571.1(MADD):c.2241C>T (p.Gly747=)	MADD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3025582	NM_001376571.1(MADD):c.2106T>G (p.Ser702=)	MADD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3024973	NM_001376571.1(MADD):c.1854T>G (p.Thr618=)	MADD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2689390	NM_001376571.1(MADD):c.1778G>A (p.Arg593His)	MADD (R371H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2689389	NM_001376571.1(MADD):c.2458T>G (p.Ser820Ala)	MADD (S598A +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2689388	NM_001376571.1(MADD):c.4223T>A (p.Val1408Glu)	MADD (V1127E +48 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2682541	NM_001376571.1(MADD):c.640A>G (p.Ile214Val)	MADD (I146V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2682540	NM_001376571.1(MADD):c.1705+15C>T	MADD	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2672464	NM_001376571.1(MADD):c.1113C>T (p.Thr371=)	MADD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2665104	NC_000011.10:g.(47329894_47331627)_(47335115_47335951)del	MADD, MYBPC3	Deletion	Hypertrophic cardiomyopathy 4	GPathogenic
Select item 2662411	NM_001376571.1(MADD):c.1441G>A (p.Asp481Asn)	MADD (D259N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2641765	NM_001376571.1(MADD):c.4932G>A (p.Pro1644=)	MADD	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2641764	NM_001376571.1(MADD):c.4383C>T (p.Cys1461=)	MADD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2641763	NM_001376571.1(MADD):c.3084C>T (p.His1028=)	MADD	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2641762	NM_001376571.1(MADD):c.2955C>A (p.Arg985=)	MADD	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2641761	NM_001376571.1(MADD):c.780C>T (p.Pro260=)	MADD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2641760	NM_001376571.1(MADD):c.144G>A (p.Leu48=)	MADD	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2630124	NM_001376571.1(MADD):c.568C>T (p.Arg190Ter)	MADD (R122* +1 more)	Single nucleotide variant (nonsense +2 more)	MADD-related disorder	GLikely pathogenic
Select item 2630010	NM_001376571.1(MADD):c.382T>C (p.Ser128Pro)	MADD (S128P +1 more)	Single nucleotide variant (missense variant +2 more)	MADD-related disorder	GUncertain significance
Select item 2629854	NM_001376571.1(MADD):c.2486G>A (p.Ser829Asn)	MADD (S607N +7 more)	Single nucleotide variant (missense variant +1 more)	MADD-related disorder	GUncertain significance
Select item 2618643	NM_001376571.1(MADD):c.1853C>G (p.Thr618Ser)	MADD (T550S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2610577	NM_001376571.1(MADD):c.4763G>A (p.Cys1588Tyr)	MADD (C1452Y +38 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2599536	NM_001376571.1(MADD):c.2851A>G (p.Ser951Gly)	MADD (S899G +15 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2597458	NM_001376571.1(MADD):c.2495A>G (p.Asn832Ser)	MADD (N610S +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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