ClinVar for MedGen (Select 854709) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 103

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2423749	NC_000013.10:g.(?_37446775)_(37453826_?)del	SMAD9	Deletion	Pulmonary hypertension, primary, 2	GPathogenic
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)	Inborn genetic diseases +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 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 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 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
Select item 1402838	NM_001127217.3(SMAD9):c.1260G>C (p.Lys420Asn)	SMAD9 (K383N +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 2	GUncertain significance
Select item 1398515	NM_001127217.3(SMAD9):c.679C>A (p.Pro227Thr)	SMAD9 (P227T)	Single nucleotide variant (missense variant +1 more)	Pulmonary hypertension, primary, 2	GUncertain significance
Select item 1330824	NM_001127217.3(SMAD9):c.810_811dup (p.Gln271fs)	SMAD9 (Q234fs +1 more)	Duplication (frameshift variant)	Pulmonary hypertension, primary, 2	GLikely pathogenic
Select item 1330293	NM_001127217.3(SMAD9):c.136AAG[5] (p.Lys49dup)	SMAD9	Microsatellite (inframe_insertion)	Pulmonary hypertension, primary, 2	GUncertain significance
Select item 1325103	NM_001127217.3(SMAD9):c.564_567dup (p.Pro190fs)	SMAD9 (P190fs)	Duplication (frameshift variant)	Pulmonary hypertension, primary, 2	GLikely pathogenic
Select item 1297487	NM_001127217.3(SMAD9):c.1161C>A (p.Asn387Lys)	SMAD9 (N350K +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 2	GUncertain significance
Select item 1179087	NM_001127217.3(SMAD9):c.386dup (p.Tyr129Ter)	SMAD9 (Y129*)	Duplication (nonsense)	Pulmonary hypertension, primary, 2	GPathogenic
Select item 1158853	NM_001127217.3(SMAD9):c.135A>G (p.Leu45=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 1137202	NM_001127217.3(SMAD9):c.567C>G (p.Leu189=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 1127551	NM_001127217.3(SMAD9):c.522C>T (p.Asn174=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 1063362	NM_001127217.3(SMAD9):c.449A>G (p.Tyr150Cys)	SMAD9 (Y150C)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 2	GUncertain significance
Select item 1027683	NM_001127217.3(SMAD9):c.950C>G (p.Ser317Cys)	SMAD9 (S280C +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 2	GUncertain significance
Select item 1019667	NM_001127217.3(SMAD9):c.218G>A (p.Arg73His)	SMAD9 (R73H)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 2	GUncertain significance
Select item 993610	NM_001127217.3(SMAD9):c.1016A>G (p.Tyr339Cys)	SMAD9 (Y302C +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 2	GUncertain significance
Select item 993591	NM_001127217.3(SMAD9):c.781+18A>G	SMAD9	Single nucleotide variant (intron variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 870725	NM_001127217.3(SMAD9):c.1047C>T (p.Cys349=)	SMAD9	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 811870	NM_001127217.3(SMAD9):c.1045T>G (p.Cys349Gly)	SMAD9 (C312G +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 2	GUncertain significance
Select item 750048	NM_001127217.3(SMAD9):c.1098C>T (p.His366=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 711581	NM_001127217.3(SMAD9):c.685C>T (p.Leu229=)	SMAD9	Single nucleotide variant (synonymous variant +1 more)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 680403	NM_001127217.3(SMAD9):c.1260+17A>C	SMAD9	Single nucleotide variant (intron variant)	Pulmonary hypertension, primary, 2 +1 more	GBenign/Likely benign
Select item 548691	NM_001127217.3(SMAD9):c.1156A>G (p.Asn386Asp)	SMAD9 (N349D +1 more)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension associated with congenital heart disease +1 more	GUncertain significance
Select item 541761	NM_001127217.3(SMAD9):c.781+2T>A	SMAD9	Single nucleotide variant (intron variant +1 more)	Pulmonary hypertension, primary, 2	GLikely pathogenic
Select item 474935	NM_001127217.3(SMAD9):c.603G>T (p.Pro201=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 452036	NM_001127217.3(SMAD9):c.907G>A (p.Asp303Asn)	SMAD9 (D303N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 390833	NM_001127217.3(SMAD9):c.1004-6C>T	SMAD9	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 311902	NM_001127217.3(SMAD9):c.743C>A (p.Thr248Lys)	SMAD9 (T248K)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 311901	NM_001127217.3(SMAD9):c.828C>T (p.Val276=)	SMAD9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 311898	NM_001127217.3(SMAD9):c.1011C>G (p.His337Gln)	SMAD9 (H337Q +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 2	GUncertain significance
Select item 311897	NM_001127217.3(SMAD9):c.1035G>A (p.Val345=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2 +1 more	GBenign/Likely benign
Select item 227954	NM_001127217.3(SMAD9):c.48C>T (p.Pro16=)	SMAD9	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 227077	NM_001127217.3(SMAD9):c.756T>C (p.His252=)	SMAD9	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 227076	NM_001127217.3(SMAD9):c.12C>T (p.Thr4=)	SMAD9	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 213814	NM_001127217.3(SMAD9):c.1243C>T (p.Arg415Trp)	SMAD9 (R415W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 213812	NM_001127217.3(SMAD9):c.788G>A (p.Arg263Gln)	SMAD9 (R263Q +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 2 +1 more	GConflicting classifications of pathogenicity
Select item 213811	NM_001127217.3(SMAD9):c.65T>C (p.Leu22Pro)	SMAD9 (L22P)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 2 +2 more	GConflicting classifications of pathogenicity
Select item 213810	NM_001127217.3(SMAD9):c.487G>A (p.Ala163Thr)	SMAD9 (A163T)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 2 +1 more	GLikely benign

<< First< Prev

Page of 2