ClinVar for MedGen (Select 854500) - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2056317	NM_001204.7(BMPR2):c.1882A>G (p.Thr628Ala)	BMPR2 (T628A)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GUncertain significance FDA Recognized database
Select item 1589364	NM_001204.7(BMPR2):c.150A>G (p.Arg50=)	BMPR2	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 1 +2 more	GLikely benign
Select item 1398400	NM_001204.7(BMPR2):c.2526G>T (p.Arg842Ser)	BMPR2 (R842S)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension +2 more	GConflicting classifications of pathogenicity
Select item 1377673	NM_001204.7(BMPR2):c.983C>T (p.Ala328Val)	BMPR2 (A328V)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension +2 more	GUncertain significance
Select item 1328389	NM_001204.7(BMPR2):c.2094del (p.Pro698_Leu699insTer)	BMPR2	Deletion (frameshift variant)	Pulmonary venoocclusive disease 1	GLikely pathogenic
Select item 1328388	NM_001204.7(BMPR2):c.530-2A>G	BMPR2	Single nucleotide variant (splice acceptor variant)	Pulmonary venoocclusive disease 1	GPathogenic
Select item 1112108	NM_001204.7(BMPR2):c.1037C>A (p.Thr346Asn)	BMPR2 (T346N)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GLikely benign FDA Recognized database
Select item 1100664	NM_001204.7(BMPR2):c.1863G>A (p.Thr621=)	BMPR2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 898679	NM_001204.7(BMPR2):c.*5535G>A	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1 +1 more	GUncertain significance
Select item 898678	NM_001204.7(BMPR2):c.*5252A>G	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1 +1 more	GUncertain significance
Select item 898482	NM_001204.7(BMPR2):c.1586G>A (p.Arg529His)	BMPR2 (R529H)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1 +1 more	GUncertain significance
Select item 898415	NM_001204.7(BMPR2):c.-434G>A	BMPR2	Single nucleotide variant (5 prime UTR variant)	Pulmonary hypertension, primary, 1 +1 more	GUncertain significance
Select item 897581	NM_001204.7(BMPR2):c.*7273G>A	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1 +1 more	GUncertain significance
Select item 896823	NM_001204.7(BMPR2):c.549T>C (p.Leu183=)	BMPR2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 895978	NM_001204.7(BMPR2):c.*6731G>A	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1 +1 more	GUncertain significance
Select item 895425	NM_001204.7(BMPR2):c.57G>A (p.Leu19=)	BMPR2	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 1 +2 more	GBenign/Likely benign
Select item 703661	NM_001204.7(BMPR2):c.726C>T (p.Asn242=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension +2 more	GLikely benign
Select item 698629	NM_001204.7(BMPR2):c.63C>T (p.Val21=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension +4 more	GBenign/Likely benign
Select item 667371	NM_001013703.4(EIF2AK4):c.4593del (p.Ile1533fs)	EIF2AK4 (I1533fs)	Deletion (frameshift variant)	Pulmonary venoocclusive disease 1	GLikely pathogenic
Select item 548687	NM_001204.7(BMPR2):c.2353G>A (p.Glu785Lys)	BMPR2 (E785K)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension +3 more	GConflicting classifications of pathogenicity
Select item 548686	NM_001204.7(BMPR2):c.529+1G>A	BMPR2	Single nucleotide variant (splice donor variant)	Pulmonary hypertension, primary, 1 +2 more	GPathogenic/Likely pathogenic
Select item 425965	NM_001204.7(BMPR2):c.1750C>T (p.Arg584Ter)	BMPR2 (R584*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1 +1 more	GPathogenic
Select item 425955	NM_001204.7(BMPR2):c.1516A>G (p.Met506Val)	BMPR2 (M506V)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GUncertain significance FDA Recognized database
Select item 425898	NM_001204.7(BMPR2):c.1241G>A (p.Trp414Ter)	BMPR2 (W414*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1 +1 more	GLikely pathogenic
Select item 425875	NM_001204.7(BMPR2):c.1120del (p.Ala373_Ile374insTer)	BMPR2	Deletion (nonsense)	Pulmonary venoocclusive disease 1	GPathogenic
Select item 425842	NM_001204.7(BMPR2):c.908G>A (p.Arg303His)	BMPR2 (R303H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 425708	NM_001204.7(BMPR2):c.156_157del (p.Ser52_His53insTer)	BMPR2	Microsatellite (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 409829	NM_001204.7(BMPR2):c.968-5A>G	BMPR2	Single nucleotide variant (intron variant)	Pulmonary arterial hypertension	GPathogenic FDA Recognized database
Select item 409828	NM_001204.7(BMPR2):c.1509A>C (p.Glu503Asp)	BMPR2 (E503D)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GLikely benign FDA Recognized database
Select item 409813	NM_001204.7(BMPR2):c.1398G>A (p.Trp466Ter)	BMPR2 (W466*)	Single nucleotide variant (nonsense)	Primary pulmonary hypertension +2 more	GPathogenic
Select item 333724	NM_001204.7(BMPR2):c.*7080G>A	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1 +1 more	GUncertain significance
Select item 333712	NM_001204.7(BMPR2):c.*5624A>G	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1 +1 more	GUncertain significance
Select item 333689	NM_001204.7(BMPR2):c.*3354G>T	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary venoocclusive disease 1 +1 more	GUncertain significance
Select item 333681	NM_001204.7(BMPR2):c.*2854T>G	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1 +1 more	GUncertain significance
Select item 333680	NM_001204.7(BMPR2):c.*2833G>A	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1 +1 more	GUncertain significance
Select item 333677	NM_001204.7(BMPR2):c.*2491T>C	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1 +1 more	GUncertain significance
Select item 333665	NM_001204.7(BMPR2):c.*815C>T	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary venoocclusive disease 1 +1 more	GUncertain significance
Select item 333650	NM_001204.7(BMPR2):c.2801G>C (p.Arg934Thr)	BMPR2 (R934T)	Single nucleotide variant (missense variant)	Pulmonary venoocclusive disease 1 +1 more	GLikely benign
Select item 333634	NM_001204.7(BMPR2):c.-301G>A	BMPR2	Single nucleotide variant (5 prime UTR variant)	BMPR2-related disorder +4 more	GBenign/Likely benign
Select item 333632	NM_001204.7(BMPR2):c.-407G>T	BMPR2	Single nucleotide variant (5 prime UTR variant)	Pulmonary hypertension, primary, 1 +1 more	GUncertain significance
Select item 333629	NM_001204.7(BMPR2):c.-669G>A	BMPR2, LOC129935434	Single nucleotide variant (5 prime UTR variant)	Pulmonary arterial hypertension	GBenign FDA Recognized database
Select item 280019	NM_001204.7(BMPR2):c.637C>T (p.Arg213Ter)	BMPR2 (R213*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 225305	NM_001204.7(BMPR2):c.276A>C (p.Gln92His)	BMPR2 (Q92H)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension +3 more	GConflicting classifications of pathogenicity
Select item 222513	NM_001204.7(BMPR2):c.439C>T (p.Arg147Ter)	BMPR2 (R147*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1 +3 more	GPathogenic
Select item 195138	NM_001204.7(BMPR2):c.136A>G (p.Ile46Val)	BMPR2 (I46V)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1 +2 more	GUncertain significance
Select item 162791	NM_001204.7(BMPR2):c.600A>C (p.Leu200=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension +5 more	GBenign/Likely benign
Select item 39423	NM_001204.7(BMPR2):c.583G>T (p.Glu195Ter)	BMPR2 (E195*)	Single nucleotide variant (nonsense)	Pulmonary venoocclusive disease 1	GPathogenic
Select item 39422	NM_001204.7(BMPR2):c.604A>T (p.Asn202Tyr)	BMPR2 (N202Y)	Single nucleotide variant (missense variant)	Pulmonary venoocclusive disease 1 +1 more	GConflicting classifications of pathogenicity
Select item 8816	NM_001204.7(BMPR2):c.(76+1_77-1)_(247+1_248-1)del	BMPR2	Deletion	Pulmonary venoocclusive disease 1 +1 more	GPathogenic
Select item 8815	NM_001204.7(BMPR2):c.120T>G (p.Tyr40Ter)	BMPR2 (Y40*)	Single nucleotide variant (nonsense)	Pulmonary venoocclusive disease 1	GPathogenic
Select item 8814	NM_001204.7(BMPR2):c.44del (p.Pro15fs)	BMPR2 (P15fs)	Deletion (frameshift variant)	Pulmonary venoocclusive disease 1 +1 more	GPathogenic
Select item 8812	NM_001204.7(BMPR2):c.631C>T (p.Arg211Ter)	BMPR2 (R211*)	Single nucleotide variant (nonsense)	Primary pulmonary hypertension +3 more	GPathogenic
Select item 8806	NM_001204.7(BMPR2):c.1472G>A (p.Arg491Gln)	BMPR2 (R491Q)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GPathogenic FDA Recognized database
Select item 8796	NM_001204.7(BMPR2):c.2695C>T (p.Arg899Ter)	BMPR2 (R899*)	Single nucleotide variant (nonsense)	Primary pulmonary hypertension +3 more	GPathogenic

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Items: 54