ClinVar for Gene (Select 4093) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3337598	NM_001127217.3(SMAD9):c.1092dup (p.Gln365fs)	SMAD9 (Q328fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 3320659	NM_001127217.3(SMAD9):c.1089C>A (p.Asn363Lys)	SMAD9 (N363K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3244229	NC_000013.10:g.(?_36878502)_(40325230_?)dup	ALG5, CCNA1 +16 more	Duplication	not provided	GUncertain significance
Select item 3244195	NC_000013.10:g.(?_37393495)_(37583436_?)del	ALG5, EXOSC8 +2 more	Deletion	MHC class II deficiency	GPathogenic
Select item 3166259	NM_001127217.3(SMAD9):c.946C>G (p.Leu316Val)	SMAD9 (L316V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166258	NM_001127217.3(SMAD9):c.392A>G (p.Tyr131Cys)	SMAD9 (Y131C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166257	NM_001127217.3(SMAD9):c.280C>T (p.Arg94Cys)	SMAD9 (R94C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063311	GRCh37/hg19 13q13.2-21.1(chr13:35015723-59553519)x3	AKAP11, ALG11 +117 more	Copy number gain	not specified	GPathogenic
Select item 3063306	GRCh37/hg19 13q13.2-14.11(chr13:35060982-44540846)x1	AKAP11, ALG5 +42 more	Copy number loss	not specified	GUncertain significance
Select item 3024581	GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1	CCDC70, CCNA1 +119 more	Copy number loss	not provided	GPathogenic
Select item 3014594	NM_001127217.3(SMAD9):c.154A>G (p.Met52Val)	SMAD9 (M52V)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 2	GUncertain significance
Select item 3008833	NM_001127217.3(SMAD9):c.957A>G (p.Val319=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 3005579	NM_001127217.3(SMAD9):c.670+14A>G	SMAD9	Single nucleotide variant (intron variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 2997189	NM_001127217.3(SMAD9):c.163C>T (p.Leu55=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 2982461	NM_001127217.3(SMAD9):c.1134C>T (p.Ser378=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 2959867	NM_001127217.3(SMAD9):c.1335A>C (p.Pro445=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 2920108	NM_001127217.3(SMAD9):c.413-7A>G	SMAD9	Single nucleotide variant (intron variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 2913991	NM_001127217.3(SMAD9):c.217C>T (p.Arg73Cys)	SMAD9 (R73C)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 2	GUncertain significance
Select item 2910928	NM_001127217.3(SMAD9):c.606C>T (p.Cys202=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 2908338	NM_001127217.3(SMAD9):c.336C>T (p.Cys112=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 2905695	NM_001127217.3(SMAD9):c.137_140del (p.Lys46fs)	SMAD9 (K46fs)	Deletion (frameshift variant)	Pulmonary hypertension, primary, 2	GPathogenic
Select item 2903682	NM_001127217.3(SMAD9):c.585C>T (p.His195=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 2895304	NM_001127217.3(SMAD9):c.315C>T (p.His105=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 2894508	NM_001127217.3(SMAD9):c.351T>C (p.Phe117=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 2894421	NM_001127217.3(SMAD9):c.237G>A (p.Leu79=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 2892767	NM_001127217.3(SMAD9):c.850C>T (p.Arg284Ter)	SMAD9 (R247* +1 more)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 2	GPathogenic
Select item 2885117	NM_001127217.3(SMAD9):c.555G>A (p.Pro185=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 2867002	NM_001127217.3(SMAD9):c.951T>G (p.Ser317=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 2858489	NM_001127217.3(SMAD9):c.768G>A (p.Ser256=)	SMAD9	Single nucleotide variant (synonymous variant +1 more)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 2857977	NM_001127217.3(SMAD9):c.437G>A (p.Arg146Lys)	SMAD9 (R146K)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 2856945	NM_001127217.3(SMAD9):c.412+7C>G	SMAD9	Single nucleotide variant (intron variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 2851917	NM_001127217.3(SMAD9):c.412+18C>T	SMAD9	Single nucleotide variant (intron variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 2827948	NM_001127217.3(SMAD9):c.540T>C (p.Ser180=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 2816162	NM_001127217.3(SMAD9):c.309C>T (p.Ser103=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 2792531	NM_001127217.3(SMAD9):c.686del (p.Leu229fs)	SMAD9 (L229fs)	Deletion (frameshift variant +1 more)	Pulmonary hypertension, primary, 2	GPathogenic
Select item 2791207	NM_001127217.3(SMAD9):c.792A>T (p.Pro264=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 2771070	NM_001127217.3(SMAD9):c.450T>C (p.Tyr150=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 2764770	NM_001127217.3(SMAD9):c.177C>G (p.Leu59=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 2761750	NM_001127217.3(SMAD9):c.995T>C (p.Ile332Thr)	SMAD9 (I332T +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 2	GUncertain significance
Select item 2755561	NM_001127217.3(SMAD9):c.348A>G (p.Pro116=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GBenign
Select item 2754423	NM_001127217.3(SMAD9):c.659A>G (p.Tyr220Cys)	SMAD9 (Y220C)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 2	GUncertain significance
Select item 2744806	NM_001127217.3(SMAD9):c.327G>A (p.Pro109=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GBenign
Select item 2742200	NM_001127217.3(SMAD9):c.201A>G (p.Lys67=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 2740809	NM_001127217.3(SMAD9):c.462C>T (p.Leu154=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 2738991	NM_001127217.3(SMAD9):c.412+15C>T	SMAD9	Single nucleotide variant (intron variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 2735720	NM_001127217.3(SMAD9):c.434C>A (p.Pro145Gln)	SMAD9 (P145Q)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 2735658	NM_001127217.3(SMAD9):c.1020C>T (p.Tyr340=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GBenign
Select item 2732417	NM_001127217.3(SMAD9):c.966C>T (p.Asn322=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 2723487	NM_001127217.3(SMAD9):c.228C>T (p.Asp76=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 2723481	NM_001127217.3(SMAD9):c.825G>A (p.Ser275=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 2722368	NM_001127217.3(SMAD9):c.1140C>T (p.Cys380=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 2720837	NM_001127217.3(SMAD9):c.781+9C>T	SMAD9	Single nucleotide variant (intron variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 2719769	NM_001127217.3(SMAD9):c.879C>T (p.Ser293=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 2699342	NM_001127217.3(SMAD9):c.186G>A (p.Pro62=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 2695366	NM_001127217.3(SMAD9):c.971C>T (p.Thr324Met)	SMAD9 (T324M +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 2	GUncertain significance
Select item 2684700	GRCh37/hg19 13q13.3(chr13:37267058-37979438)x3	ALG5, CSNK1A1L +5 more	Copy number gain	not provided	GUncertain significance
Select item 2663053	NM_001127217.3(SMAD9):c.1091A>G (p.Tyr364Cys)	SMAD9 (Y327C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2633941	NM_001127217.3(SMAD9):c.296C>T (p.Pro99Leu)	SMAD9 (P99L)	Single nucleotide variant (missense variant)	SMAD9-related disorder	GUncertain significance
Select item 2633811	NM_001127217.3(SMAD9):c.1282C>T (p.Arg428Cys)	SMAD9 (R391C +1 more)	Single nucleotide variant (missense variant)	SMAD9-related disorder	GUncertain significance
Select item 2535976	NM_001127217.3(SMAD9):c.1192G>T (p.Val398Phe)	SMAD9 (V361F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519168	NM_001127217.3(SMAD9):c.1073A>G (p.Gln358Arg)	SMAD9 (Q358R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493470	NM_001127217.3(SMAD9):c.1201G>A (p.Gly401Ser)	SMAD9 (G401S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485263	NM_001127217.3(SMAD9):c.802G>A (p.Glu268Lys)	SMAD9 (E231K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476130	NM_001127217.3(SMAD9):c.563C>T (p.Ala188Val)	SMAD9 (A188V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2469772	NM_001127217.3(SMAD9):c.537C>G (p.Asp179Glu)	SMAD9 (D179E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2423749	NC_000013.10:g.(?_37446775)_(37453826_?)del	SMAD9	Deletion	Pulmonary hypertension, primary, 2	GPathogenic
Select item 2387675	NM_001127217.3(SMAD9):c.1213G>A (p.Val405Met)	SMAD9 (V368M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382792	NM_001127217.3(SMAD9):c.185C>T (p.Pro62Leu)	SMAD9 (P62L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381239	NM_001127217.3(SMAD9):c.283G>T (p.Val95Leu)	SMAD9 (V95L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369530	NM_001127217.3(SMAD9):c.1088A>G (p.Asn363Ser)	SMAD9 (N363S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242732	NM_001127217.3(SMAD9):c.575C>T (p.Ser192Leu)	SMAD9 (S192L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237162	NM_001127217.3(SMAD9):c.172G>T (p.Ala58Ser)	SMAD9 (A58S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2197339	NM_001127217.3(SMAD9):c.554C>T (p.Pro185Leu)	SMAD9 (P185L)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 2	GUncertain significance
Select item 2195334	NM_001127217.3(SMAD9):c.71G>A (p.Trp24Ter)	SMAD9 (W24*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 2	GPathogenic
Select item 2166714	NM_001127217.3(SMAD9):c.4C>G (p.His2Asp)	SMAD9 (H2D)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 2	GUncertain significance
Select item 2157435	NM_001127217.3(SMAD9):c.622C>G (p.His208Asp)	SMAD9 (H208D)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 2 +1 more	GConflicting classifications of pathogenicity
Select item 2143935	NM_001127217.3(SMAD9):c.54G>A (p.Val18=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 2141385	NM_001127217.3(SMAD9):c.507A>T (p.Pro169=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 2100751	NM_001127217.3(SMAD9):c.486C>T (p.Ser162=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 2092045	NM_001127217.3(SMAD9):c.430G>T (p.Val144Leu)	SMAD9 (V144L)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 2069523	NM_001127217.3(SMAD9):c.920A>G (p.Asn307Ser)	SMAD9 (N270S +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 2 +1 more	GConflicting classifications of pathogenicity
Select item 1964526	NM_001127217.3(SMAD9):c.1212C>T (p.Val404=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 1809134	GRCh37/hg19 13q13.3-14.11(chr13:35501428-40901176)x1	ALG5, CCDC169 +22 more	Copy number loss	not provided	GPathogenic
Select item 1808770	GRCh37/hg19 13q13.3-14.11(chr13:36148057-41670428)x3	ALG5, CCDC169 +26 more	Copy number gain	not provided	GUncertain significance
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1709994	NM_001127217.3(SMAD9):c.1197_1198insA (p.His400fs)	SMAD9 (H363fs +1 more)	Insertion (frameshift variant)	Pulmonary hypertension, primary, 2	GUncertain significance
Select item 1704377	NM_001127217.3(SMAD9):c.205G>A (p.Val69Ile)	SMAD9 (V69I)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 2	GUncertain significance
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	ABCC4, ABHD13 +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1696748	NM_001127217.3(SMAD9):c.281G>C (p.Arg94Pro)	SMAD9 (R94P)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 2	GUncertain significance
Select item 1649671	NM_001127217.3(SMAD9):c.781+17C>T	SMAD9	Single nucleotide variant (intron variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 1645667	NM_001127217.3(SMAD9):c.1004-8G>A	SMAD9	Single nucleotide variant (intron variant)	Pulmonary hypertension, primary, 2	GBenign/Likely benign
Select item 1527766	GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753)	SPART, SPRYD7 +147 more	Copy number loss	not specified	GPathogenic
Select item 1527765	GRCh37/hg19 13q13.3(chr13:36064105-39230796)x1	ALG5, CCDC169 +15 more	Copy number loss	not specified	GPathogenic
Select item 1527763	GRCh37/hg19 13q13.3(chr13:35531798-39607778)	ALG5, CCDC169 +19 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527762	GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)	AKAP11, ALG11 +127 more	Copy number loss	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	VPS36, VWA8 +329 more	Copy number gain	not specified	GPathogenic
Select item 1498083	NM_001127217.3(SMAD9):c.767C>T (p.Ser256Leu)	SMAD9 (S256L)	Single nucleotide variant (missense variant +1 more)	Pulmonary hypertension, primary, 2	GUncertain significance
Select item 1449237	NM_001127217.3(SMAD9):c.362A>G (p.Gln121Arg)	SMAD9 (Q121R)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 2	GUncertain significance
Select item 1442152	NM_001127217.3(SMAD9):c.482G>A (p.Arg161His)	SMAD9 (R161H)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 2 +1 more	GUncertain significance

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