ClinVar for MedGen (Select 425404) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1803913	NM_016204.4(GDF2):c.1042C>A (p.Pro348Thr)	GDF2 (P348T)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GUncertain significance
Select item 1723148	NM_001204.7(BMPR2):c.2336C>G (p.Ser779Ter)	BMPR2 (S779*)	Single nucleotide variant (nonsense)	Pulmonary arterial hypertension	GLikely pathogenic
Select item 1706636	NM_001013703.4(EIF2AK4):c.1243del (p.Tyr415fs)	EIF2AK4 (Y415fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension	GPathogenic
Select item 1706635	NM_001204.7(BMPR2):c.978del (p.Lys326fs)	BMPR2 (K326fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension	GPathogenic
Select item 1706634	NM_001204.7(BMPR2):c.1644del (p.Ser549fs)	BMPR2 (S549fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension	GPathogenic
Select item 1706633	NM_001204.7(BMPR2):c.2530C>T (p.Gln844Ter)	BMPR2 (Q844*)	Single nucleotide variant (nonsense)	Pulmonary arterial hypertension	GPathogenic
Select item 1706632	NM_001204.7(BMPR2):c.189dup (p.Ser64Ter)	BMPR2 (S64*)	Duplication (nonsense)	Pulmonary arterial hypertension	GPathogenic
Select item 1706631	NM_007027.4(TOPBP1):c.672G>T (p.Lys224Asn)	TOPBP1 (K224N)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GBenign
Select item 1706630	NM_000435.3(NOTCH3):c.4816A>G (p.Ser1606Gly)	NOTCH3 (S1606G)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GUncertain significance
Select item 1706629	NM_002246.3(KCNK3):c.571_573delinsCAA (p.Tyr191Gln)	KCNK3 (Y191Q)	Indel (missense variant)	Pulmonary arterial hypertension	GUncertain significance
Select item 1706628	NM_001204.7(BMPR2):c.1169del (p.Gly390fs)	BMPR2 (G390fs)	Deletion (frameshift variant)	Primary pulmonary hypertension	GPathogenic
Select item 1706627	NM_016204.4(GDF2):c.554C>A (p.Ala185Asp)	GDF2 (A185D)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GUncertain significance
Select item 1706626	NM_001013703.4(EIF2AK4):c.301G>T (p.Glu101Ter)	EIF2AK4 (E101*)	Single nucleotide variant (nonsense)	Pulmonary arterial hypertension	GPathogenic
Select item 1683987	NM_017617.5(NOTCH1):c.2479G>A (p.Glu827Lys)	NOTCH1 (E827K)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 1543292	NM_000435.3(NOTCH3):c.3629G>A (p.Arg1210His)	NOTCH3 (R1210H)	Single nucleotide variant (missense variant)	NOTCH3-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1527900	NM_022454.4(SOX17):c.314C>A (p.Ser105Ter)	SOX17 (S105*)	Single nucleotide variant (nonsense)	Pulmonary arterial hypertension	GPathogenic
Select item 1342867	NM_001204.7(BMPR2):c.617T>A (p.Leu206Ter)	BMPR2 (L206*)	Single nucleotide variant (nonsense)	Pulmonary arterial hypertension	GLikely pathogenic
Select item 1339417	NM_001204.7(BMPR2):c.2146G>T (p.Glu716Ter)	BMPR2 (E716*)	Single nucleotide variant (nonsense)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339416	NM_001204.7(BMPR2):c.2140G>T (p.Ala714Ser)	BMPR2 (A714S)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GBenign
Select item 1339415	NM_001204.7(BMPR2):c.2073dup (p.Gln692fs)	BMPR2 (Q692fs)	Duplication (frameshift variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339414	NM_001204.7(BMPR2):c.1958del (p.Pro653fs)	BMPR2 (P653fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339412	NM_001204.7(BMPR2):c.1744A>T (p.Lys582Ter)	BMPR2 (K582*)	Single nucleotide variant (nonsense)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339411	NM_004329.3(BMPR1A):c.1549del (p.Ile517fs)	BMPR1A (I517fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339410	NM_004329.3(BMPR1A):c.118dup (p.Asp40fs)	BMPR1A (D40fs)	Duplication (frameshift variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339409	NM_001204.7(BMPR2):c.1524G>A (p.Trp508Ter)	BMPR2 (W508*)	Single nucleotide variant (nonsense)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339408	NM_001204.7(BMPR2):c.1492G>A (p.Glu498Lys)	BMPR2 (E498K)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension associated with another disease +2 more	Gnot provided
Select item 1339407	NM_004329.3(BMPR1A):c.1468G>A (p.Asp490Asn)	BMPR1A (D490N)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339406	NM_004329.3(BMPR1A):c.117del (p.Asp40fs)	BMPR1A (D40fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339405	NM_004329.3(BMPR1A):c.1250_1253del (p.Leu417fs)	BMPR1A (L417fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339404	NM_004329.3(BMPR1A):c.1233_1236dup (p.Leu413fs)	BMPR1A (L413fs)	Duplication (frameshift variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339403	NM_004329.3(BMPR1A):c.1197del (p.Asn399fs)	BMPR1A (N399fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339402	NM_004329.3(BMPR1A):c.1191_1192del (p.Leu398fs)	BMPR1A (L398fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339401	NM_001204.7(BMPR2):c.1175T>A (p.Val392Glu)	BMPR2 (V392E)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension associated with congenital heart disease +2 more	Gnot provided
Select item 1339400	NM_004329.3(BMPR1A):c.1172C>A (p.Thr391Lys)	BMPR1A (T391K)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339399	NM_001204.7(BMPR2):c.1154C>G (p.Pro385Arg)	BMPR2 (P385R)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339398	NM_004329.3(BMPR1A):c.1141dup (p.Leu381fs)	BMPR1A (L381fs)	Duplication (frameshift variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339397	NM_004329.3(BMPR1A):c.1128del (p.Cys377fs)	BMPR1A (C377fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339396	NM_001204.7(BMPR2):c.995G>C (p.Arg332Pro)	BMPR2 (R332P)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339395	NM_004329.3(BMPR1A):c.994C>T (p.Leu332Phe)	BMPR1A (L332F)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome	GUncertain significance
Select item 1339394	NM_004329.3(BMPR1A):c.969dup (p.Ala324fs)	BMPR1A (A324fs)	Duplication (frameshift variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339393	NM_001204.7(BMPR2):c.967G>A (p.Asp323Asn)	BMPR2 (D323N)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339392	NM_001204.7(BMPR2):c.947A>G (p.His316Arg)	BMPR2 (H316R)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339391	NM_004329.3(BMPR1A):c.942_943insA (p.Gly315fs)	BMPR1A (G315fs)	Insertion (frameshift variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339390	NM_001204.7(BMPR2):c.935T>C (p.Leu312Pro)	BMPR2 (L312P)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339389	NM_004329.3(BMPR1A):c.918_921del (p.Leu305_Tyr306insTer)	BMPR1A	Deletion (nonsense)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339388	NM_004329.3(BMPR1A):c.894_895dup (p.Thr299fs)	BMPR1A (T299fs)	Duplication (frameshift variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339387	NM_004329.3(BMPR1A):c.893G>A (p.Gly298Asp)	BMPR1A (G298D)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339386	NM_004329.3(BMPR1A):c.872dup (p.Ile292fs)	BMPR1A (I292fs)	Duplication (frameshift variant)	Pulmonary arterial hypertension associated with congenital heart disease +2 more	Gnot provided
Select item 1339385	NM_004329.3(BMPR1A):c.862dup (p.Ile288fs)	BMPR1A (I288fs)	Duplication (frameshift variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339384	NM_004329.3(BMPR1A):c.53_64del (p.Ile18_Gln22delinsLys)	BMPR1A	Deletion (inframe_indel)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339383	NM_004329.3(BMPR1A):c.835dup (p.Gln279fs)	BMPR1A (Q279fs)	Duplication (frameshift variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339382	NM_001204.7(BMPR2):c.775C>T (p.Arg259Cys)	BMPR2 (R259C)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension associated with another disease +2 more	Gnot provided
Select item 1339381	NM_004329.3(BMPR1A):c.697del (p.Gln233fs)	BMPR1A (Q233fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339380	NM_004329.3(BMPR1A):c.689_690del (p.Ile230fs)	BMPR1A (I230fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339379	NM_004329.3(BMPR1A):c.688A>T (p.Ile230Phe)	BMPR1A (I230F)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339378	NM_004329.3(BMPR1A):c.544_545del (p.Ser182fs)	BMPR1A (S182fs)	Microsatellite (frameshift variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339377	NM_004329.3(BMPR1A):c.524del (p.Cys175fs)	BMPR1A (C175fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339376	NM_004329.3(BMPR1A):c.452_453del (p.Ile151fs)	BMPR1A (I151fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339375	NM_001204.7(BMPR2):c.419-1G>T	BMPR2	Single nucleotide variant (splice acceptor variant)	Primary pulmonary hypertension	GLikely pathogenic
Select item 1339374	NM_004329.3(BMPR1A):c.345del (p.Ala116fs)	BMPR1A (A116fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339373	NM_001204.7(BMPR2):c.297T>G (p.Cys99Trp)	BMPR2 (C99W)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339372	NM_004329.3(BMPR1A):c.279_280del (p.Glu93fs)	BMPR1A (E93fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339371	NM_004329.3(BMPR1A):c.277dup (p.Glu93fs)	BMPR1A (E93fs)	Duplication (frameshift variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339370	NM_004329.3(BMPR1A):c.258del (p.Ile86fs)	BMPR1A (I86fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339369	NM_001204.7(BMPR2):c.218C>A (p.Ser73Ter)	BMPR2 (S73*)	Single nucleotide variant (nonsense)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339368	NM_004329.3(BMPR1A):c.211del (p.Ala71fs)	BMPR1A (A71fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339367	NM_004329.3(BMPR1A):c.203del (p.Pro68fs)	BMPR1A (P68fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339366	NM_004329.3(BMPR1A):c.201T>G (p.Cys67Trp)	BMPR1A (C67W)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339365	NM_004329.3(BMPR1A):c.199dup (p.Cys67fs)	BMPR1A (C67fs)	Duplication (frameshift variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339364	NM_001204.7(BMPR2):c.2952del (p.Trp984fs)	BMPR2 (W984fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339363	NM_004329.3(BMPR1A):c.165dup (p.Pro57fs)	BMPR1A (P57fs)	Duplication (frameshift variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339362	NM_001204.7(BMPR2):c.2651_2652insAT (p.Asp885fs)	BMPR2 (D885fs)	Insertion (frameshift variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339361	NM_001204.7(BMPR2):c.2457_2464del (p.Ala820fs)	BMPR2 (A820fs)	Deletion (frameshift variant)	Drug- or toxin-induced pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339360	NM_001204.7(BMPR2):c.2396dup (p.His800fs)	BMPR2 (H800fs)	Duplication (frameshift variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339359	NM_001204.7(BMPR2):c.2268del (p.Ser757fs)	BMPR2 (S757fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339358	NM_004329.3(BMPR1A):c.137dup (p.Asn46fs)	BMPR1A (N46fs)	Duplication (frameshift variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339357	NM_004329.3(BMPR1A):c.7del (p.Gln3fs)	BMPR1A (Q3fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1303232	NM_001204.7(BMPR2):c.1361C>T (p.Ser454Phe)	BMPR2 (S454F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1195993	NM_001367549.1(ATP13A3):c.3685G>T (p.Glu1229Ter)	ATP13A3 (E1199* +2 more)	Single nucleotide variant (nonsense +1 more)	Pulmonary arterial hypertension +1 more	GConflicting classifications of pathogenicity
Select item 1195992	NM_001367549.1(ATP13A3):c.3079dup (p.Trp1027fs)	ATP13A3 (W1000fs +1 more)	Duplication (non-coding transcript variant +1 more)	Pulmonary arterial hypertension	GPathogenic
Select item 1195991	NM_001367549.1(ATP13A3):c.2227C>T (p.Arg743Cys)	ATP13A3 (R716C +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary arterial hypertension +1 more	GLikely pathogenic
Select item 1195990	NM_001367549.1(ATP13A3):c.2549dup (p.Met850fs)	ATP13A3 (M823fs +1 more)	Duplication (frameshift variant +1 more)	Pulmonary arterial hypertension +1 more	GPathogenic
Select item 1195989	NM_001367549.1(ATP13A3):c.2563G>A (p.Val855Met)	ATP13A3 (V828M +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary arterial hypertension	GLikely pathogenic
Select item 1069660	NM_001204.7(BMPR2):c.1748dup (p.Asn583fs)	BMPR2 (N583fs)	Duplication (frameshift variant)	Primary pulmonary hypertension	GPathogenic
Select item 1069537	NM_001204.7(BMPR2):c.2450_2451del (p.Asn817fs)	BMPR2 (N817fs)	Deletion (frameshift variant)	Primary pulmonary hypertension	GPathogenic
Select item 1038384	NM_004329.3(BMPR1A):c.1450T>C (p.Ser484Pro)	BMPR1A (S484P)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome	GUncertain significance
Select item 845712	NM_001204.7(BMPR2):c.2202del (p.Pro735fs)	BMPR2 (P735fs)	Deletion (frameshift variant)	Primary pulmonary hypertension	GPathogenic
Select item 820753	NM_004329.3(BMPR1A):c.211G>A (p.Ala71Thr)	BMPR1A (A71T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 813271	Single allele	ICA1L, NBEAL1 +4 more	Deletion	Pulmonary arterial hypertension	GLikely pathogenic
Select item 813266	Single allele	BMPR2, NOP58	Deletion	Pulmonary arterial hypertension	GPathogenic
Select item 813265	Single allele	BMPR2, NOP58 +1 more	Deletion	Pulmonary arterial hypertension	GLikely pathogenic
Select item 813264	Single allele	FZD7, ICA1L +13 more	Deletion	Pulmonary arterial hypertension	GPathogenic
Select item 813263	Single allele	ABI2, ALS2 +35 more	Deletion	Pulmonary arterial hypertension	GPathogenic
Select item 813012	NM_001204.7(BMPR2):c.26_41del (p.Trp9fs)	BMPR2 (W9fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension	GPathogenic
Select item 813011	NM_001204.7(BMPR2):c.19del (p.Arg7fs)	BMPR2 (R7fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension	GPathogenic
Select item 813010	NM_002246.3(KCNK3):c.544G>C (p.Glu182Gln)	KCNK3 (E182Q)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GLikely pathogenic
Select item 812955	Single allele	BMPR2	Deletion	Pulmonary arterial hypertension	GLikely pathogenic
Select item 812954	Single allele	BMPR2	Deletion	Pulmonary arterial hypertension	GLikely pathogenic
Select item 812953	NM_001204.7(BMPR2):c.1413+4638_1586+1016del	BMPR2	Deletion (splice acceptor variant +1 more)	Pulmonary arterial hypertension	GLikely pathogenic
Select item 812952	NM_001204.7(BMPR2):c.1277-305_1414-4736del	BMPR2, LOC129935436	Deletion (splice acceptor variant +1 more)	Pulmonary arterial hypertension	GLikely pathogenic

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