ClinVar for Gene (Select 64324) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068762	NM_022455.5(NSD1):c.3397A>G (p.Lys1133Glu)	NSD1 (K1133E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068761	NM_022455.5(NSD1):c.4127C>A (p.Pro1376His)	NSD1 (P1085H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067829	NM_022455.5(NSD1):c.5503A>G (p.Lys1835Glu)	LOC126807619, NSD1 (K1544E +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 3067796	NM_022455.5(NSD1):c.6929T>C (p.Val2310Ala)	NSD1 (V1936A +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3065835	NM_022455.5(NSD1):c.1925C>A (p.Ser642Tyr)	NSD1 (S351Y +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 3065271	NM_022455.5(NSD1):c.3815A>T (p.Lys1272Ile)	NSD1 (K1021I +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GLikely benign
Select item 3065221	NM_022455.5(NSD1):c.2466_2467del (p.Pro823fs)	NSD1 (P532fs +3 more)	Microsatellite (frameshift variant)	Sotos syndrome	GLikely pathogenic
Select item 3064436	NM_022455.5(NSD1):c.1286A>G (p.Glu429Gly)	NSD1 (E138G +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 3064159	NM_022455.5(NSD1):c.2323C>T (p.Gln775Ter)	NSD1 (Q484* +3 more)	Single nucleotide variant (nonsense)	Sotos syndrome	GPathogenic
Select item 3062841	GRCh37/hg19 5q35.2-35.3(chr5:176385815-178410738)x1	B4GALT7, CLK4 +33 more	Copy number loss	not specified	GPathogenic
Select item 3062836	GRCh37/hg19 5q35.3(chr5:176693044-176709760)x1	NSD1	Copy number loss	not specified	GPathogenic
Select item 3062273	NM_022455.5(NSD1):c.4139_4140dup (p.Val1381fs)	NSD1 (V1090fs +3 more)	Duplication (frameshift variant)	Sotos syndrome	GLikely pathogenic
Select item 3061669	NM_022455.5(NSD1):c.1133T>C (p.Val378Ala)	NSD1 (V127A +3 more)	Single nucleotide variant (missense variant)	NSD1-related condition	GUncertain significance
Select item 3060325	NM_022455.5(NSD1):c.6909G>A (p.Gly2303=)	NSD1	Single nucleotide variant (synonymous variant)	NSD1-related condition	GLikely benign
Select item 3053284	NM_022455.5(NSD1):c.42G>C (p.Leu14=)	NSD1	Single nucleotide variant (5 prime UTR variant +1 more)	NSD1-related condition	GLikely benign
Select item 3042021	NM_022455.5(NSD1):c.6501C>A (p.Cys2167Ter)	NSD1 (C1793* +5 more)	Single nucleotide variant (nonsense)	NSD1-related condition	GLikely pathogenic
Select item 3032491	NM_022455.5(NSD1):c.5766C>T (p.Pro1922=)	NSD1	Single nucleotide variant (synonymous variant)	NSD1-related condition	GLikely benign
Select item 3032348	NM_022455.5(NSD1):c.2309G>A (p.Gly770Asp)	NSD1 (G479D +3 more)	Single nucleotide variant (missense variant)	NSD1-related condition	GUncertain significance
Select item 3032300	NM_022455.5(NSD1):c.5849T>C (p.Leu1950Ser)	NSD1 (L1659S +4 more)	Single nucleotide variant (missense variant)	NSD1-related condition	GUncertain significance
Select item 3031334	NM_022455.5(NSD1):c.7876dup (p.Ala2626fs)	NSD1 (A2252fs +5 more)	Duplication (frameshift variant)	NSD1-related condition	GUncertain significance
Select item 3029474	NM_022455.5(NSD1):c.2370A>C (p.Ile790=)	NSD1	Single nucleotide variant (synonymous variant)	NSD1-related condition	GLikely benign
Select item 3028900	NM_022455.5(NSD1):c.4014del (p.Glu1340fs)	NSD1 (E1049fs +3 more)	Deletion (frameshift variant)	Sotos syndrome	GLikely pathogenic
Select item 3027455	NM_022455.5(NSD1):c.5510C>A (p.Ala1837Asp)	NSD1 (A1546D +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GLikely pathogenic
Select item 3027256	NM_022455.5(NSD1):c.2778G>T (p.Arg926=)	NSD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026279	NM_022455.5(NSD1):c.2209A>G (p.Thr737Ala)	NSD1 (T446A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024295	NM_022455.5(NSD1):c.4196del (p.Asn1399fs)	NSD1 (N1108fs +3 more)	Deletion (frameshift variant)	Sotos syndrome	GPathogenic
Select item 2692570	NM_022455.5(NSD1):c.4431T>C (p.Ala1477=)	NSD1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2692474	NM_022455.5(NSD1):c.6566_6567dup (p.Met2190fs)	NSD1 (M1936fs +5 more)	Duplication (frameshift variant)	Sotos syndrome	GPathogenic
Select item 2691013	NM_022455.5(NSD1):c.5616T>A (p.His1872Gln)	NSD1 (H1581Q +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GLikely pathogenic
Select item 2689617	NM_022455.5(NSD1):c.3578G>A (p.Ser1193Asn)	NSD1 (S1053N +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 2689616	NM_022455.5(NSD1):c.2308G>A (p.Gly770Ser)	NSD1 (G479S +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 2689615	NM_022455.5(NSD1):c.2800G>A (p.Val934Ile)	NSD1 (V643I +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 2685189	GRCh37/hg19 5q35.2(chr5:176483840-176588195)x1	FGFR4, NSD1 +1 more	Copy number loss	not provided	GPathogenic
Select item 2685186	GRCh37/hg19 5q35.2-35.3(chr5:175332333-177469711)x1	ARL10, B4GALT7 +38 more	Copy number loss	not provided	GPathogenic
Select item 2682194	NM_022455.5(NSD1):c.6502G>A (p.Gly2168Arg)	NSD1 (G1794R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671584	Single allele	FAM193B, GPRIN1 +36 more	Deletion	not provided	GPathogenic
Select item 2664780	NM_022455.5(NSD1):c.4459A>G (p.Lys1487Glu)	NSD1 (K1196E +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 2663942	NM_022455.5(NSD1):c.3940G>T (p.Glu1314Ter)	NSD1 (E1023* +3 more)	Single nucleotide variant (nonsense)	Sotos syndrome	GLikely pathogenic
Select item 2663750	NM_022455.5(NSD1):c.6824G>A (p.Arg2275Lys)	NSD1 (R1901K +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663740	NM_022455.5(NSD1):c.5816G>T (p.Arg1939Leu)	NSD1 (R1648L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663197	NM_022455.5(NSD1):c.1621G>A (p.Asp541Asn)	NSD1 (D250N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662504	NM_022455.5(NSD1):c.173A>G (p.Gln58Arg)	NSD1 (Q58R)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2662252	NM_022455.5(NSD1):c.2528A>T (p.His843Leu)	NSD1 (H552L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662237	NM_022455.5(NSD1):c.6314G>A (p.Gly2105Glu)	NSD1 (G1731E +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662009	NM_022455.5(NSD1):c.6967G>T (p.Ala2323Ser)	NSD1 (A1949S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661949	NM_022455.5(NSD1):c.1372G>A (p.Glu458Lys)	NSD1 (E167K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656113	NM_022455.5(NSD1):c.7765C>T (p.Leu2589=)	NSD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656112	NM_022455.5(NSD1):c.7234G>T (p.Ala2412Ser)	NSD1 (A2038S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656111	NM_022455.5(NSD1):c.5046T>G (p.Leu1682=)	NSD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656110	NM_022455.5(NSD1):c.4944A>T (p.Pro1648=)	NSD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656109	NM_022455.5(NSD1):c.4378+5G>A	NSD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2656108	NM_022455.5(NSD1):c.3975T>C (p.Ala1325=)	NSD1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2656107	NM_022455.5(NSD1):c.3657A>G (p.Thr1219=)	NSD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656106	NM_022455.5(NSD1):c.3637A>G (p.Ile1213Val)	NSD1 (I1073V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656105	NM_022455.5(NSD1):c.3331G>A (p.Asp1111Asn)	NSD1 (D1111N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656104	NM_022455.5(NSD1):c.3192T>C (p.Leu1064=)	NSD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656103	NM_022455.5(NSD1):c.1711T>G (p.Ser571Ala)	NSD1 (S280A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656102	NM_022455.5(NSD1):c.1694C>T (p.Pro565Leu)	NSD1 (P274L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656101	NM_022455.5(NSD1):c.1236+5G>A	NSD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2656100	NM_022455.5(NSD1):c.1089G>A (p.Gln363=)	NSD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656099	NM_022455.5(NSD1):c.642A>C (p.Thr214=)	NSD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656098	NM_022455.5(NSD1):c.585T>C (p.Tyr195=)	NSD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2637907	NM_022455.5(NSD1):c.4823dup (p.Pro1609fs)	NSD1 (P1318fs +4 more)	Duplication (frameshift variant)	Sotos syndrome	GLikely pathogenic
Select item 2637419	NM_022455.5(NSD1):c.6845C>T (p.Pro2282Leu)	NSD1 (P1908L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2637360	NM_022455.5(NSD1):c.5510-1G>A	NSD1	Single nucleotide variant (splice acceptor variant)	NSD1-related condition	GLikely pathogenic
Select item 2636825	NM_022455.5(NSD1):c.3207G>C (p.Gln1069His)	NSD1 (Q1069H +3 more)	Single nucleotide variant (missense variant)	NSD1-related condition	GUncertain significance
Select item 2636426	NM_022455.5(NSD1):c.4509G>T (p.Met1503Ile)	NSD1 (M1212I +3 more)	Single nucleotide variant (missense variant)	NSD1-related condition	GUncertain significance
Select item 2636297	NM_022455.5(NSD1):c.6701C>G (p.Thr2234Ser)	NSD1 (T1860S +5 more)	Single nucleotide variant (missense variant)	NSD1-related condition	GUncertain significance
Select item 2633959	NM_022455.5(NSD1):c.4433C>T (p.Ala1478Val)	NSD1 (A1187V +3 more)	Single nucleotide variant (missense variant)	NSD1-related condition	GUncertain significance
Select item 2633483	NM_022455.5(NSD1):c.4508T>G (p.Met1503Arg)	NSD1 (M1212R +3 more)	Single nucleotide variant (missense variant)	NSD1-related condition	GUncertain significance
Select item 2633244	NM_022455.5(NSD1):c.583T>G (p.Tyr195Asp)	NSD1 (Y195D)	Single nucleotide variant (missense variant +1 more)	NSD1-related condition	GUncertain significance
Select item 2632854	NM_022455.5(NSD1):c.4072C>T (p.Gln1358Ter)	NSD1 (Q1067* +3 more)	Single nucleotide variant (nonsense)	NSD1-related condition	GPathogenic
Select item 2631534	NM_022455.5(NSD1):c.6216T>G (p.Cys2072Trp)	NSD1 (C1781W +4 more)	Single nucleotide variant (missense variant +1 more)	NSD1-related condition	GLikely pathogenic
Select item 2631429	NM_022455.5(NSD1):c.319G>A (p.Ala107Thr)	NSD1 (A107T)	Single nucleotide variant (missense variant +1 more)	NSD1-related condition	GUncertain significance
Select item 2631270	NM_022455.5(NSD1):c.2358G>C (p.Lys786Asn)	NSD1 (K495N +3 more)	Single nucleotide variant (missense variant)	NSD1-related condition	GUncertain significance
Select item 2631168	NM_022455.5(NSD1):c.7757G>A (p.Gly2586Asp)	NSD1 (G2212D +5 more)	Single nucleotide variant (missense variant)	NSD1-related condition	GUncertain significance
Select item 2630833	NM_022455.5(NSD1):c.4715G>A (p.Gly1572Glu)	NSD1 (G1281E +3 more)	Single nucleotide variant (missense variant)	NSD1-related condition	GUncertain significance
Select item 2629849	NM_022455.5(NSD1):c.395G>A (p.Cys132Tyr)	NSD1 (C132Y)	Single nucleotide variant (intron variant +1 more)	NSD1-related condition	GUncertain significance
Select item 2629706	NM_022455.5(NSD1):c.6151+1G>T	NSD1	Single nucleotide variant (splice donor variant +1 more)	NSD1-related condition	GLikely pathogenic
Select item 2629309	NM_022455.5(NSD1):c.950C>T (p.Thr317Met)	NSD1 (T177M +2 more)	Single nucleotide variant (missense variant)	NSD1-related condition	GUncertain significance
Select item 2629280	NM_022455.5(NSD1):c.7948T>C (p.Trp2650Arg)	NSD1 (W2276R +5 more)	Single nucleotide variant (missense variant)	NSD1-related condition	GUncertain significance
Select item 2629177	NM_022455.5(NSD1):c.2860A>G (p.Lys954Glu)	NSD1 (K663E +3 more)	Single nucleotide variant (missense variant)	NSD1-related condition	GUncertain significance
Select item 2627905	NM_022455.5(NSD1):c.5304-2A>G	LOC126807619, NSD1	Single nucleotide variant (splice acceptor variant)	Sotos syndrome	GPathogenic
Select item 2623351	NM_022455.5(NSD1):c.3012C>A (p.Asp1004Glu)	NSD1 (D1004E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2619676	NM_022455.5(NSD1):c.274G>A (p.Asp92Asn)	NSD1 (D92N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2618107	NM_022455.5(NSD1):c.7126G>A (p.Glu2376Lys)	NSD1 (E2125K +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611643	NM_022455.5(NSD1):c.3014T>G (p.Leu1005Arg)	NSD1 (L1005R +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome +1 more	GUncertain significance
Select item 2585504	NM_022455.5(NSD1):c.3577A>G (p.Ser1193Gly)	NSD1 (S1053G +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 2585165	NM_022455.5(NSD1):c.5972_5973dup (p.Asp1992fs)	NSD1 (D1741fs +4 more)	Duplication (frameshift variant)	Sotos syndrome	GLikely pathogenic
Select item 2585159	NM_022455.5(NSD1):c.2428T>C (p.Cys810Arg)	NSD1 (C559R +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 2585109	NM_022455.5(NSD1):c.6257dup (p.Asn2087fs)	NSD1 (N2087fs +4 more)	Duplication (frameshift variant +1 more)	Sotos syndrome	GLikely pathogenic
Select item 2584922	NM_022455.5(NSD1):c.5268C>A (p.Tyr1756Ter)	NSD1 (Y1465* +4 more)	Single nucleotide variant (nonsense)	Sotos syndrome	GLikely pathogenic
Select item 2584511	NM_022455.5(NSD1):c.5374G>A (p.Gly1792Arg)	LOC126807619, NSD1 (G1501R +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GLikely pathogenic
Select item 2584337	NM_022455.5(NSD1):c.5359A>G (p.Met1787Val)	LOC126807619, NSD1 (M1496V +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GPathogenic
Select item 2582645	NM_022455.5(NSD1):c.5710C>T (p.Pro1904Ser)	NSD1 (P1613S +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GLikely pathogenic
Select item 2582330	NM_022455.5(NSD1):c.5907_5908insA (p.Glu1970fs)	NSD1 (E1679fs +4 more)	Insertion (frameshift variant)	Sotos syndrome	GLikely pathogenic
Select item 2581869	NM_022455.5(NSD1):c.2452G>A (p.Asp818Asn)	NSD1 (D527N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580731	NM_022455.5(NSD1):c.3706G>A (p.Val1236Ile)	NSD1 (V1096I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579264	GRCh38/hg38 5q35.2-35.3(chr5:176447531-177312407)x1	LOC129995352, LOC129995353 +65 more	Copy number loss	Sotos syndrome	GPathogenic
Select item 2579146	NM_022455.5(NSD1):c.4766-2A>C	NSD1	Single nucleotide variant (splice acceptor variant)	Sotos syndrome	GUncertain significance

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