"Ambry Genetics"[submitter] AND "MADD"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2352525	NM_001376571.1(MADD):c.46G>T (p.Val16Leu)	MADD (V16L)	Single nucleotide variant (intron variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2537742	NM_001376571.1(MADD):c.81C>A (p.Ser27Arg)	MADD (S27R)	Single nucleotide variant (missense variant +3 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 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 2246541	NM_001376571.1(MADD):c.199C>T (p.Arg67Trp)	MADD (R67W)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2410869	NM_001376571.1(MADD):c.233T>C (p.Val78Ala)	MADD (V10A +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2271297	NM_001376571.1(MADD):c.295C>T (p.Arg99Cys)	MADD (R31C +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2349368	NM_001376571.1(MADD):c.469C>T (p.Pro157Ser)	MADD (P157S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2352754	NM_001376571.1(MADD):c.473G>A (p.Arg158Gln)	MADD (R90Q +1 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 1213042	NM_001376571.1(MADD):c.494C>G (p.Ala165Gly)	MADD (A165G +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2407168	NM_001376571.1(MADD):c.508C>T (p.Arg170Cys)	MADD (R170C +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1209130	NM_001376571.1(MADD):c.509G>A (p.Arg170His)	MADD (R102H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2294730	NM_001376571.1(MADD):c.592C>T (p.Arg198Cys)	MADD (R198C +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2329159	NM_001376571.1(MADD):c.673C>T (p.Arg225Trp)	MADD (R157W +2 more)	Single nucleotide variant (missense variant +1 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 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 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 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 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 2552233	NM_001376571.1(MADD):c.1210G>T (p.Val404Leu)	MADD (V182L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2428740	NM_001376571.1(MADD):c.1222A>C (p.Thr408Pro)	MADD (T186P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2363154	NM_001376571.1(MADD):c.1223C>T (p.Thr408Ile)	MADD (T340I +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 2320485	NM_001376571.1(MADD):c.1347T>G (p.His449Gln)	MADD (H381Q +2 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 2514401	NM_001376571.1(MADD):c.1406C>T (p.Pro469Leu)	MADD (P247L +2 more)	Single nucleotide variant (missense variant +1 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 985446	NM_001376571.1(MADD):c.1448A>G (p.Asp483Gly)	MADD (D261G +2 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 2528061	NM_001376571.1(MADD):c.1577G>C (p.Gly526Ala)	MADD (G304A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2495448	NM_001376571.1(MADD):c.1615G>A (p.Ala539Thr)	MADD (A471T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2539826	NM_001376571.1(MADD):c.1618G>A (p.Glu540Lys)	MADD (E318K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2255542	NM_001376571.1(MADD):c.1655G>T (p.Gly552Val)	MADD (G484V +2 more)	Single nucleotide variant (missense variant +1 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 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 2479587	NM_001376571.1(MADD):c.1768A>G (p.Ile590Val)	MADD (I522V +2 more)	Single nucleotide variant (missense variant +1 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 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 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 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 2532388	NM_001376571.1(MADD):c.1988C>T (p.Ala663Val)	MADD (A441V +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2345807	NM_001376571.1(MADD):c.2023G>A (p.Glu675Lys)	MADD (E607K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2251839	NM_001376571.1(MADD):c.2085C>G (p.Asn695Lys)	MADD (N473K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1175794	NM_001376571.1(MADD):c.2096G>A (p.Arg699His)	MADD (R477H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2224670	NM_001376571.1(MADD):c.2104T>A (p.Ser702Thr)	MADD (S480T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2397097	NM_001376571.1(MADD):c.2156C>G (p.Ser719Cys)	MADD (S651C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294799	NM_001376571.1(MADD):c.2200G>A (p.Gly734Ser)	MADD (G512S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2297991	NM_001376571.1(MADD):c.2222C>A (p.Ser741Tyr)	MADD (S673Y +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2219758	NM_001376571.1(MADD):c.2261G>A (p.Arg754His)	MADD (R754H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2387380	NM_001376571.1(MADD):c.2265G>T (p.Gln755His)	MADD (Q533H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2528067	NM_001376571.1(MADD):c.2293C>T (p.Arg765Trp)	MADD (R697W +2 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 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 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 2311556	NM_001376571.1(MADD):c.2389A>G (p.Ser797Gly)	MADD (S729G +2 more)	Single nucleotide variant (missense variant +2 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 2556542	NM_001376571.1(MADD):c.2446C>G (p.Leu816Val)	MADD (L594V +7 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 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 2373327	NM_001376571.1(MADD):c.2491C>G (p.Pro831Ala)	MADD (P609A +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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
Select item 2375493	NM_001376571.1(MADD):c.2564G>A (p.Arg855Gln)	MADD (R812Q +7 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	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 2347318	NM_001376571.1(MADD):c.2633C>G (p.Thr878Arg)	MADD (T827R +7 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 2254177	NM_001376571.1(MADD):c.2674A>C (p.Met892Leu)	MADD (M840L +5 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 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 2386740	NM_001376571.1(MADD):c.2804C>T (p.Ser935Phe)	MADD (S824F +14 more)	Single nucleotide variant (missense variant +2 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 2595597	NM_001376571.1(MADD):c.2818G>A (p.Glu940Lys)	MADD (E829K +15 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 2407775	NM_001376571.1(MADD):c.2889G>A (p.Met963Ile)	MADD (M721I +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 2272670	NM_001376571.1(MADD):c.2900G>C (p.Arg967Pro)	MADD (R856P +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 2345004	NM_001376571.1(MADD):c.2996C>T (p.Pro999Leu)	MADD (P868L +15 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 3121995	NM_001376571.1(MADD):c.3201_3206del (p.Val1068_Gly1069del)	MADD	Deletion (inframe_deletion +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 2576705	NM_001376571.1(MADD):c.3229C>G (p.Arg1077Gly)	MADD (R1005G +16 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 2312432	NM_001376571.1(MADD):c.3275G>A (p.Gly1092Glu)	MADD (G1024E +16 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2370583	NM_001376571.1(MADD):c.3304G>C (p.Gly1102Arg)	MADD (G1005R +16 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2368554	NM_001376571.1(MADD):c.3305G>A (p.Gly1102Asp)	MADD (G1005D +16 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2236682	NM_001376571.1(MADD):c.3358A>G (p.Ile1120Val)	MADD (I1032V +16 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2290101	NM_001376571.1(MADD):c.3416-5C>T	MADD	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2590510	NM_001376571.1(MADD):c.3477C>G (p.Ile1159Met)	MADD (I1044M +24 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	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 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 2351661	NM_001376571.1(MADD):c.3560T>C (p.Met1187Thr)	MADD (M1058T +24 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2382163	NM_001376571.1(MADD):c.3680G>A (p.Gly1227Asp)	MADD (G1095D +41 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2269489	NM_001376571.1(MADD):c.3701C>T (p.Ser1234Phe)	MADD (S1023F +41 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2221332	NM_001376571.1(MADD):c.3722G>C (p.Ser1241Thr)	MADD (S1108T +41 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	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 2371363	NM_001376571.1(MADD):c.3818G>A (p.Arg1273His)	MADD (R1062H +42 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2520401	NM_001376571.1(MADD):c.3844G>T (p.Val1282Phe)	MADD (V1163F +42 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2395443	NM_001376571.1(MADD):c.3944C>T (p.Ser1315Phe)	MADD (S1034F +48 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

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