ClinVar for Gene (Select 4851) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068409	NM_017617.5(NOTCH1):c.1670-2A>T	NOTCH1	Single nucleotide variant (splice acceptor variant)	Adams-Oliver syndrome 5	GLikely pathogenic
Select item 3065671	NM_017617.5(NOTCH1):c.5351G>A (p.Arg1784Gln)	NOTCH1 (R1784Q)	Single nucleotide variant (missense variant)	Aortic valve disease 1	GUncertain significance
Select item 3063102	GRCh37/hg19 9q34.3(chr9:139356644-139427066)x1	C9orf163, NOTCH1 +1 more	Copy number loss	not specified	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 3061903	NM_017617.5(NOTCH1):c.5167+5G>A	NOTCH1	Single nucleotide variant (intron variant)	Aortic valve disease 1	GUncertain significance
Select item 3056858	NM_017617.5(NOTCH1):c.1629C>T (p.Cys543=)	NOTCH1	Single nucleotide variant (synonymous variant)	NOTCH1-related condition	GLikely benign
Select item 3054921	NM_017617.5(NOTCH1):c.2433C>G (p.Ala811=)	NOTCH1	Single nucleotide variant (synonymous variant)	NOTCH1-related condition	GLikely benign
Select item 3053167	NM_017617.5(NOTCH1):c.5580C>A (p.Pro1860=)	NOTCH1	Single nucleotide variant (synonymous variant)	NOTCH1-related condition	GLikely benign
Select item 3051738	NM_017617.5(NOTCH1):c.3170del (p.Gln1057fs)	NOTCH1 (Q1057fs)	Deletion (frameshift variant)	NOTCH1-related condition	GPathogenic
Select item 3048375	NM_017617.5(NOTCH1):c.4549G>C (p.Asp1517His)	NOTCH1 (D1517H)	Single nucleotide variant (missense variant)	NOTCH1-related condition	GLikely pathogenic
Select item 3046994	NM_017617.5(NOTCH1):c.738G>C (p.Leu246=)	NOTCH1	Single nucleotide variant (synonymous variant)	NOTCH1-related condition	GLikely benign
Select item 3046105	NM_017617.5(NOTCH1):c.1113C>T (p.His371=)	NOTCH1	Single nucleotide variant (synonymous variant)	NOTCH1-related condition	GLikely benign
Select item 3045983	NM_017617.5(NOTCH1):c.4249C>T (p.Pro1417Ser)	NOTCH1 (P1417S)	Single nucleotide variant (missense variant)	NOTCH1-related condition	GUncertain significance
Select item 3037250	NM_017617.5(NOTCH1):c.*7C>T	NOTCH1	Single nucleotide variant (3 prime UTR variant)	NOTCH1-related condition	GLikely benign
Select item 3033700	NM_017617.5(NOTCH1):c.5385-8C>G	NOTCH1	Single nucleotide variant (intron variant)	NOTCH1-related condition	GUncertain significance
Select item 3032191	NM_017617.5(NOTCH1):c.231G>A (p.Val77=)	NOTCH1	Single nucleotide variant (synonymous variant)	NOTCH1-related condition	GLikely benign
Select item 3032002	NM_017617.5(NOTCH1):c.7457C>T (p.Ser2486Leu)	NOTCH1 (S2486L)	Single nucleotide variant (missense variant)	NOTCH1-related condition	GUncertain significance
Select item 3031762	NM_017617.5(NOTCH1):c.5914G>C (p.Asp1972His)	NOTCH1 (D1972H)	Single nucleotide variant (missense variant)	NOTCH1-related condition	GUncertain significance
Select item 3031490	NM_017617.5(NOTCH1):c.728G>T (p.Cys243Phe)	NOTCH1 (C243F)	Single nucleotide variant (missense variant)	NOTCH1-related condition	GUncertain significance
Select item 3031449	NM_017617.5(NOTCH1):c.11T>C (p.Leu4Pro)	LOC130003020, NOTCH1 (L4P)	Single nucleotide variant (missense variant)	NOTCH1-related condition	GUncertain significance
Select item 3031248	NM_017617.5(NOTCH1):c.1063G>T (p.Ala355Ser)	NOTCH1 (A355S)	Single nucleotide variant (missense variant)	NOTCH1-related condition	GUncertain significance
Select item 3027324	NM_017617.5(NOTCH1):c.2407C>T (p.Gln803Ter)	NOTCH1 (Q803*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3027051	NM_017617.5(NOTCH1):c.3356G>A (p.Gly1119Glu)	NOTCH1 (G1119E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024066	NM_017617.5(NOTCH1):c.390G>C (p.Pro130=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 3021657	NM_017617.5(NOTCH1):c.4586+17C>T	NOTCH1	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 3019784	NM_017617.5(NOTCH1):c.1078G>A (p.Glu360Lys)	NOTCH1 (E360K)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GBenign
Select item 3019783	NM_017617.5(NOTCH1):c.2969+2TG[3]	NOTCH1	Microsatellite (splice donor variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 3019210	NM_017617.5(NOTCH1):c.4587-10C>T	NOTCH1	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 3018903	NM_017617.5(NOTCH1):c.5472+19G>A	NOTCH1	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 3018859	NM_017617.5(NOTCH1):c.140+9C>G	NOTCH1	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 3018369	NM_017617.5(NOTCH1):c.6495C>T (p.Gly2165=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 3017241	NM_017617.5(NOTCH1):c.6500C>A (p.Ala2167Asp)	NOTCH1 (A2167D)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 3015686	NM_017617.5(NOTCH1):c.304C>T (p.Leu102=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 3014617	NM_017617.5(NOTCH1):c.5739C>T (p.Phe1913=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 3014322	NM_017617.5(NOTCH1):c.2056C>T (p.Pro686Ser)	NOTCH1 (P686S)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 3013064	NM_017617.5(NOTCH1):c.2207+19C>G	NOTCH1	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 3012950	NM_017617.5(NOTCH1):c.260G>A (p.Cys87Tyr)	NOTCH1 (C87Y)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 3011654	NM_017617.5(NOTCH1):c.5557C>T (p.Leu1853=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 3011621	NM_017617.5(NOTCH1):c.742+13G>A	NOTCH1	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 3011128	NM_017617.5(NOTCH1):c.65C>G (p.Pro22Arg)	NOTCH1 (P22R)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 3007639	NM_017617.5(NOTCH1):c.3426T>C (p.Cys1142=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 3007442	NM_017617.5(NOTCH1):c.2970-5T>G	NOTCH1	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 3005763	NM_017617.5(NOTCH1):c.5763C>G (p.His1921Gln)	NOTCH1 (H1921Q)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 3005552	NM_017617.5(NOTCH1):c.3812G>A (p.Cys1271Tyr)	NOTCH1 (C1271Y)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 3003674	NM_017617.5(NOTCH1):c.66G>C (p.Pro22=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 3003120	NM_017617.5(NOTCH1):c.5934+12C>G	NOTCH1	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 3002881	NM_017617.5(NOTCH1):c.4181G>A (p.Gly1394Asp)	NOTCH1 (G1394D)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 3001559	NM_017617.5(NOTCH1):c.4969A>T (p.Ser1657Cys)	NOTCH1 (S1657C)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 2997976	NM_017617.5(NOTCH1):c.62-15_62-13del	NOTCH1	Deletion (intron variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 2995435	NM_017617.5(NOTCH1):c.4450A>G (p.Asn1484Asp)	NOTCH1 (N1484D)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 2995131	NM_017617.5(NOTCH1):c.3542C>T (p.Ser1181Phe)	NOTCH1 (S1181F)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 2993652	NM_017617.5(NOTCH1):c.2521G>C (p.Gly841Arg)	NOTCH1 (G841R)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 2991687	NM_017617.5(NOTCH1):c.5473-12C>T	NOTCH1	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 2990958	NM_017617.5(NOTCH1):c.5385-2dup	NOTCH1	Duplication (splice acceptor variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 2990497	NM_017617.5(NOTCH1):c.6392del (p.Gly2131fs)	NOTCH1 (G2131fs)	Deletion (frameshift variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 2990380	NM_017617.5(NOTCH1):c.168A>G (p.Arg56=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 2988973	NM_017617.5(NOTCH1):c.5472+15T>A	NOTCH1	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 2988009	NM_017617.5(NOTCH1):c.1669+4C>T	NOTCH1	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 2986638	NM_017617.5(NOTCH1):c.5717C>T (p.Ala1906Val)	NOTCH1 (A1906V)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 2985986	NM_017617.5(NOTCH1):c.5473-15A>C	NOTCH1	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 2985957	NM_017617.5(NOTCH1):c.4449C>G (p.Phe1483Leu)	NOTCH1 (F1483L)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 2984900	NM_017617.5(NOTCH1):c.6732C>A (p.Ile2244=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 2983219	NM_017617.5(NOTCH1):c.3172-5C>G	NOTCH1	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 2982053	NM_017617.5(NOTCH1):c.1527C>G (p.Ile509Met)	NOTCH1 (I509M)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 2978817	NM_017617.5(NOTCH1):c.3260G>A (p.Ser1087Asn)	NOTCH1 (S1087N)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 2977315	NM_017617.5(NOTCH1):c.4368G>A (p.Glu1456=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5	GBenign
Select item 2974730	NM_017617.5(NOTCH1):c.2587+19C>T	NOTCH1	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 2973759	NM_017617.5(NOTCH1):c.6489C>G (p.Ser2163Arg)	NOTCH1 (S2163R)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 2973003	NM_017617.5(NOTCH1):c.769A>G (p.Asn257Asp)	NOTCH1 (N257D)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 2971190	NM_017617.5(NOTCH1):c.5427C>T (p.Asn1809=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5	GBenign
Select item 2968577	NM_017617.5(NOTCH1):c.5733C>A (p.Ser1911=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 2967785	NM_017617.5(NOTCH1):c.2012C>T (p.Thr671Ile)	NOTCH1 (T671I)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 2964980	NM_017617.5(NOTCH1):c.4853C>A (p.Pro1618His)	NOTCH1 (P1618H)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 2963933	NM_017617.5(NOTCH1):c.3356G>T (p.Gly1119Val)	NOTCH1 (G1119V)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 2963756	NM_017617.5(NOTCH1):c.6620A>G (p.His2207Arg)	NOTCH1 (H2207R)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 2963135	NM_017617.5(NOTCH1):c.5394G>A (p.Lys1798=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 2961066	NM_017617.5(NOTCH1):c.1892A>G (p.Lys631Arg)	NOTCH1 (K631R)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 2959164	NM_017617.5(NOTCH1):c.4185C>A (p.Asn1395Lys)	NOTCH1 (N1395K)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 2959051	NM_017617.5(NOTCH1):c.2468-5C>T	NOTCH1	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 2958117	NM_017617.5(NOTCH1):c.5836C>G (p.Arg1946Gly)	NOTCH1 (R1946G)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 2921257	NM_017617.5(NOTCH1):c.6351C>T (p.Asn2117=)	NOTCH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2921188	NM_017617.5(NOTCH1):c.6940C>G (p.Leu2314Val)	NOTCH1 (L2314V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2920918	NM_017617.5(NOTCH1):c.2468-7C>T	NOTCH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2920877	NM_017617.5(NOTCH1):c.1443C>T (p.Gly481=)	NOTCH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920805	NM_017617.5(NOTCH1):c.18G>T (p.Ala6=)	LOC130003020, NOTCH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920804	NM_017617.5(NOTCH1):c.17C>T (p.Ala6Val)	LOC130003020, NOTCH1 (A6V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2920427	NM_017617.5(NOTCH1):c.5559G>A (p.Leu1853=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 2920250	NM_017617.5(NOTCH1):c.743-10C>T	MIR4673, NOTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Adams-Oliver syndrome 5	GLikely benign
Select item 2919625	NM_017617.5(NOTCH1):c.2208-10C>T	NOTCH1	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 2918978	NM_017617.5(NOTCH1):c.2033A>G (p.Asn678Ser)	NOTCH1 (N678S)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 2918819	NM_017617.5(NOTCH1):c.4112C>T (p.Thr1371Ile)	NOTCH1 (T1371I)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 2918441	NM_017617.5(NOTCH1):c.6950G>C (p.Gly2317Ala)	NOTCH1 (G2317A)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 2917463	NM_017617.5(NOTCH1):c.3326-13C>A	NOTCH1	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 2917297	NM_017617.5(NOTCH1):c.4780C>T (p.Arg1594Trp)	NOTCH1 (R1594W)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 2917057	NM_017617.5(NOTCH1):c.5385-7C>T	NOTCH1	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 2916894	NM_017617.5(NOTCH1):c.4897C>A (p.Arg1633Ser)	NOTCH1 (R1633S)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 2916893	NM_017617.5(NOTCH1):c.4902C>G (p.Ala1634=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 2916458	NM_017617.5(NOTCH1):c.6480G>A (p.Lys2160=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 2915267	NM_017617.5(NOTCH1):c.5772A>C (p.Thr1924=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 2913967	NM_017617.5(NOTCH1):c.1105C>T (p.Leu369=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5	GBenign

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