ClinVar for Gene (Select 54809) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068441	NM_017654.4(SAMD9):c.1922T>G (p.Leu641Arg)	SAMD9 (L641R)	Single nucleotide variant (missense variant)	MIRAGE syndrome	GLikely pathogenic
Select item 3068021	NM_017654.4(SAMD9):c.144G>A (p.Trp48Ter)	SAMD9 (W48*)	Single nucleotide variant (nonsense)	Monosomy 7 myelodysplasia and leukemia syndrome 2	GUncertain significance
Select item 3062948	GRCh37/hg19 7q21.2(chr7:92692377-92789371)x3	SAMD9, SAMD9L	Copy number gain	not specified	GUncertain significance
Select item 3055872	NM_017654.4(SAMD9):c.3182A>G (p.Asp1061Gly)	SAMD9 (D1061G)	Single nucleotide variant (missense variant)	SAMD9-related condition	GUncertain significance
Select item 3053018	NM_017654.4(SAMD9):c.4401A>G (p.Gln1467=)	SAMD9	Single nucleotide variant (synonymous variant)	SAMD9-related condition	GLikely benign
Select item 3044254	NM_017654.4(SAMD9):c.2070_2072del (p.Trp692del)	SAMD9 (W692del)	Deletion (inframe deletion)	SAMD9-related condition	GUncertain significance
Select item 3034353	NM_017654.4(SAMD9):c.*1G>A	SAMD9	Single nucleotide variant (3 prime UTR variant)	SAMD9-related condition	GLikely benign
Select item 3033578	NM_017654.4(SAMD9):c.2856G>T (p.Gly952=)	SAMD9	Single nucleotide variant (synonymous variant)	SAMD9-related condition	GLikely benign
Select item 3033211	NM_017654.4(SAMD9):c.2102A>G (p.Tyr701Cys)	SAMD9 (Y701C)	Single nucleotide variant (missense variant)	SAMD9-related condition	GUncertain significance
Select item 3029865	NM_017654.4(SAMD9):c.1054A>G (p.Ile352Val)	SAMD9 (I352V)	Single nucleotide variant (missense variant)	SAMD9-related condition	GUncertain significance
Select item 3024010	NM_017654.4(SAMD9):c.3186A>G (p.Glu1062=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023217	NM_017654.4(SAMD9):c.3090T>C (p.Asp1030=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022586	NM_017654.4(SAMD9):c.1230T>C (p.Tyr410=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021715	NM_017654.4(SAMD9):c.2858C>T (p.Thr953Ile)	SAMD9 (T953I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3019806	NM_017654.4(SAMD9):c.2199T>C (p.Ile733=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019431	NM_017654.4(SAMD9):c.4395G>A (p.Lys1465=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018723	NM_017654.4(SAMD9):c.4203C>G (p.Thr1401=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018571	NM_017654.4(SAMD9):c.1407T>C (p.Tyr469=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016932	NM_017654.4(SAMD9):c.3733G>T (p.Glu1245Ter)	SAMD9 (E1245*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3016312	NM_017654.4(SAMD9):c.700A>G (p.Thr234Ala)	SAMD9 (T234A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012895	NM_017654.4(SAMD9):c.3222T>C (p.Ser1074=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012856	NM_017654.4(SAMD9):c.2118C>T (p.Val706=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012139	NM_017654.4(SAMD9):c.3087A>G (p.Gln1029=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012047	NM_017654.4(SAMD9):c.3921T>C (p.Phe1307=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011805	NM_017654.4(SAMD9):c.3651T>C (p.Phe1217=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011739	NM_017654.4(SAMD9):c.4039C>G (p.Leu1347Val)	SAMD9 (L1347V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011423	NM_017654.4(SAMD9):c.210A>G (p.Leu70=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011355	NM_017654.4(SAMD9):c.2082C>T (p.Phe694=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011210	NM_017654.4(SAMD9):c.3982C>T (p.Gln1328Ter)	SAMD9 (Q1328*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3010482	NM_017654.4(SAMD9):c.360A>C (p.Pro120=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009280	NM_017654.4(SAMD9):c.3064A>G (p.Met1022Val)	SAMD9 (M1022V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007846	NM_017654.4(SAMD9):c.3683T>C (p.Met1228Thr)	SAMD9 (M1228T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006797	NM_017654.4(SAMD9):c.2688C>T (p.Tyr896=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006770	NM_017654.4(SAMD9):c.645T>C (p.Phe215=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006290	NM_017654.4(SAMD9):c.2260C>T (p.Leu754=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005993	NM_017654.4(SAMD9):c.303G>T (p.Val101=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005949	NM_017654.4(SAMD9):c.1852A>G (p.Ile618Val)	SAMD9 (I618V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003344	NM_017654.4(SAMD9):c.4197A>G (p.Gln1399=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002665	NM_017654.4(SAMD9):c.3519dup (p.Glu1174fs)	SAMD9 (E1174fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3002650	NM_017654.4(SAMD9):c.159T>C (p.His53=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001631	NM_017654.4(SAMD9):c.93del (p.Lys31fs)	SAMD9 (K31fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3001630	NM_017654.4(SAMD9):c.1308G>A (p.Trp436Ter)	SAMD9 (W436*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3001011	NM_017654.4(SAMD9):c.2523T>C (p.Pro841=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000864	NM_017654.4(SAMD9):c.1318T>C (p.Leu440=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000738	NM_017654.4(SAMD9):c.2808A>G (p.Ser936=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999953	NM_017654.4(SAMD9):c.2142T>C (p.Leu714=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999856	NM_017654.4(SAMD9):c.3120C>T (p.Arg1040=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999444	NM_017654.4(SAMD9):c.768C>A (p.Thr256=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999113	NM_017654.4(SAMD9):c.4007T>C (p.Leu1336Pro)	SAMD9 (L1336P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998018	NM_017654.4(SAMD9):c.3267A>G (p.Ala1089=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997093	NM_017654.4(SAMD9):c.4590A>G (p.Leu1530=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996974	NM_017654.4(SAMD9):c.3546T>C (p.Tyr1182=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996756	NM_017654.4(SAMD9):c.93A>G (p.Lys31=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996495	NM_017654.4(SAMD9):c.3172T>C (p.Leu1058=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996361	NM_017654.4(SAMD9):c.3852T>C (p.Ile1284=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994416	NM_017654.4(SAMD9):c.951A>G (p.Gln317=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993542	NM_017654.4(SAMD9):c.465A>T (p.Pro155=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993406	NM_017654.4(SAMD9):c.2565G>A (p.Gln855=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993353	NM_017654.4(SAMD9):c.2986T>C (p.Leu996=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992416	NM_017654.4(SAMD9):c.167A>C (p.Asp56Ala)	SAMD9 (D56A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992325	NM_017654.4(SAMD9):c.2424T>C (p.Tyr808=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990238	NM_017654.4(SAMD9):c.2391T>C (p.Leu797=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990229	NM_017654.4(SAMD9):c.116A>G (p.Gln39Arg)	SAMD9 (Q39R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989708	NM_017654.4(SAMD9):c.2748G>T (p.Lys916Asn)	SAMD9 (K916N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989603	NM_017654.4(SAMD9):c.4412T>C (p.Met1471Thr)	SAMD9 (M1471T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988580	NM_017654.4(SAMD9):c.4167C>T (p.Ile1389=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988486	NM_017654.4(SAMD9):c.3114A>G (p.Arg1038=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986569	NM_017654.4(SAMD9):c.1093G>T (p.Asp365Tyr)	SAMD9 (D365Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986472	NM_017654.4(SAMD9):c.3669A>G (p.Leu1223=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985837	NM_017654.4(SAMD9):c.3964A>G (p.Lys1322Glu)	SAMD9 (K1322E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985465	NM_017654.4(SAMD9):c.1515T>C (p.Tyr505=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984816	NM_017654.4(SAMD9):c.183T>C (p.His61=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983427	NM_017654.4(SAMD9):c.505T>A (p.Phe169Ile)	SAMD9 (F169I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982951	NM_017654.4(SAMD9):c.4380A>G (p.Leu1460=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981578	NM_017654.4(SAMD9):c.2583A>G (p.Glu861=)	SAMD9	Single nucleotide variant (synonymous variant)	SAMD9-related condition +1 more	GLikely benign
Select item 2981529	NM_017654.4(SAMD9):c.1074T>C (p.Asp358=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981506	NM_017654.4(SAMD9):c.4271T>G (p.Leu1424Arg)	SAMD9 (L1424R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981491	NM_017654.4(SAMD9):c.779T>C (p.Leu260Pro)	SAMD9 (L260P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981435	NM_017654.4(SAMD9):c.3453T>A (p.Ala1151=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981185	NM_017654.4(SAMD9):c.1799A>T (p.Glu600Val)	SAMD9 (E600V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981064	NM_017654.4(SAMD9):c.2004C>T (p.Asp668=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978384	NM_017654.4(SAMD9):c.3536A>G (p.Glu1179Gly)	SAMD9 (E1179G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978076	NM_017654.4(SAMD9):c.3681T>C (p.Tyr1227=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976259	NM_017654.4(SAMD9):c.968T>C (p.Ile323Thr)	SAMD9 (I323T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975345	NM_017654.4(SAMD9):c.4231C>T (p.Leu1411=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975169	NM_017654.4(SAMD9):c.2362C>T (p.Arg788Cys)	SAMD9 (R788C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974993	NM_017654.4(SAMD9):c.4637A>G (p.Asn1546Ser)	SAMD9 (N1546S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974255	NM_017654.4(SAMD9):c.1216G>A (p.Asp406Asn)	SAMD9 (D406N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972397	NM_017654.4(SAMD9):c.486A>G (p.Val162=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972212	NM_017654.4(SAMD9):c.958T>G (p.Tyr320Asp)	SAMD9 (Y320D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2971891	NM_017654.4(SAMD9):c.1608A>G (p.Arg536=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971886	NM_017654.4(SAMD9):c.2349T>C (p.Tyr783=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969809	NM_017654.4(SAMD9):c.4437A>G (p.Ala1479=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969275	NM_017654.4(SAMD9):c.121G>C (p.Val41Leu)	SAMD9 (V41L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968651	NM_017654.4(SAMD9):c.698G>A (p.Gly233Asp)	SAMD9 (G233D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968451	NM_017654.4(SAMD9):c.3787T>C (p.Ser1263Pro)	SAMD9 (S1263P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966210	NM_017654.4(SAMD9):c.4305T>C (p.Ala1435=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965805	NM_017654.4(SAMD9):c.3555A>T (p.Ser1185=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964905	NM_017654.4(SAMD9):c.1899A>G (p.Pro633=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963755	NM_017654.4(SAMD9):c.376T>C (p.Ser126Pro)	SAMD9 (S126P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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