ClinVar for MedGen (Select 57749) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247141	NC_000002.11:g.(?_203383525)_(203407190_?)dup	BMPR2	Duplication	Primary pulmonary hypertension	GUncertain significance
Select item 3247140	NC_000002.11:g.(?_203379591)_(203379722_?)dup	BMPR2	Duplication	Primary pulmonary hypertension	GLikely pathogenic
Select item 3247139	NC_000002.11:g.(?_203383525)_(203384944_?)del	BMPR2	Deletion	Primary pulmonary hypertension	GPathogenic
Select item 3247137	NC_000002.11:g.(?_203383525)_(203424669_?)del	BMPR2	Deletion	Primary pulmonary hypertension	GPathogenic
Select item 3247136	NC_000002.11:g.(?_203378422)_(203424669_?)del	BMPR2	Deletion	Primary pulmonary hypertension	GPathogenic
Select item 3247135	NC_000002.11:g.(?_203329512)_(203397475_?)del	BMPR2	Deletion	Primary pulmonary hypertension	GPathogenic
Select item 3247134	NC_000002.11:g.(?_203424399)_(203424669_?)del	BMPR2	Deletion	Primary pulmonary hypertension	GUncertain significance
Select item 3019312	NM_001204.7(BMPR2):c.2820T>C (p.Ser940=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension	GLikely benign
Select item 3018081	NM_001204.7(BMPR2):c.1587-12del	BMPR2	Deletion (intron variant)	Primary pulmonary hypertension	GBenign
Select item 3008545	NM_001204.7(BMPR2):c.1083T>C (p.Asn361=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension	GLikely benign
Select item 3003273	NM_001204.7(BMPR2):c.2307C>G (p.Pro769=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension	GLikely benign
Select item 2997433	NM_001204.7(BMPR2):c.489T>C (p.Val163=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension	GLikely benign
Select item 2994331	NM_001204.7(BMPR2):c.853-12dup	BMPR2	Duplication (intron variant)	Primary pulmonary hypertension	GBenign
Select item 2967078	NM_001204.7(BMPR2):c.667G>C (p.Asp223His)	BMPR2 (D223H)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GLikely benign
Select item 2966433	NM_001204.7(BMPR2):c.419-14T>C	BMPR2	Single nucleotide variant (intron variant)	Primary pulmonary hypertension	GLikely benign
Select item 2965089	NM_001204.7(BMPR2):c.2970C>T (p.Val990=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension	GLikely benign
Select item 2964164	NM_001204.7(BMPR2):c.418+13A>C	BMPR2	Single nucleotide variant (intron variant)	Primary pulmonary hypertension	GLikely benign
Select item 2955043	NM_001204.7(BMPR2):c.2124C>T (p.Tyr708=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension	GLikely benign
Select item 2920293	NM_001204.7(BMPR2):c.1414-14A>G	BMPR2	Single nucleotide variant (intron variant)	Primary pulmonary hypertension	GBenign
Select item 2917410	NM_001204.7(BMPR2):c.1037C>G (p.Thr346Ser)	BMPR2 (T346S)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GBenign
Select item 2914247	NM_001204.7(BMPR2):c.2233C>T (p.Leu745Phe)	BMPR2 (L745F)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GLikely benign
Select item 2914123	NM_001204.7(BMPR2):c.2431G>A (p.Gly811Ser)	BMPR2 (G811S)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GUncertain significance
Select item 2912640	NM_001204.7(BMPR2):c.418+19T>A	BMPR2	Single nucleotide variant (intron variant)	Primary pulmonary hypertension	GLikely benign
Select item 2912633	NM_001204.7(BMPR2):c.2731T>G (p.Ser911Ala)	BMPR2 (S911A)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GLikely benign
Select item 2911058	NM_001204.7(BMPR2):c.1128+12C>T	BMPR2	Single nucleotide variant (intron variant)	Primary pulmonary hypertension	GLikely benign
Select item 2905061	NM_001204.7(BMPR2):c.465G>A (p.Leu155=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension	GLikely benign
Select item 2904788	NM_001204.7(BMPR2):c.1945A>G (p.Ile649Val)	BMPR2 (I649V)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GLikely benign
Select item 2897468	NM_001204.7(BMPR2):c.2986C>A (p.Leu996Met)	BMPR2 (L996M)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GUncertain significance
Select item 2897467	NM_001204.7(BMPR2):c.2506A>G (p.Thr836Ala)	BMPR2 (T836A)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GBenign
Select item 2896118	NM_001204.7(BMPR2):c.438C>T (p.Asn146=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension	GLikely benign
Select item 2894689	NM_001204.7(BMPR2):c.2898A>G (p.Gly966=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension	GLikely benign
Select item 2891215	NM_001204.7(BMPR2):c.1842C>G (p.Thr614=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension	GLikely benign
Select item 2889572	NM_001204.7(BMPR2):c.2832A>G (p.Ser944=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension	GLikely benign
Select item 2888562	NM_001204.7(BMPR2):c.1276+14T>G	BMPR2	Single nucleotide variant (intron variant)	Primary pulmonary hypertension	GLikely benign
Select item 2885522	NM_001204.7(BMPR2):c.853-6A>G	BMPR2	Single nucleotide variant (intron variant)	Primary pulmonary hypertension	GLikely benign
Select item 2866852	NM_001204.7(BMPR2):c.172_174del (p.Ile58del)	BMPR2 (I58del)	Deletion (inframe_deletion)	Primary pulmonary hypertension	GUncertain significance
Select item 2866368	NM_001204.7(BMPR2):c.1724C>T (p.Thr575Ile)	BMPR2 (T575I)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GBenign
Select item 2865929	NM_001204.7(BMPR2):c.1719C>T (p.Ser573=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension	GLikely benign
Select item 2864666	NM_001204.7(BMPR2):c.595del (p.Asp199fs)	BMPR2 (D199fs)	Deletion (frameshift variant)	Primary pulmonary hypertension	GPathogenic
Select item 2862408	NM_001204.7(BMPR2):c.2094A>C (p.Pro698=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension	GLikely benign
Select item 2859661	NM_001204.7(BMPR2):c.1096C>G (p.Pro366Ala)	BMPR2 (P366A)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GLikely benign
Select item 2858823	NM_001204.7(BMPR2):c.622-4G>T	BMPR2	Single nucleotide variant (intron variant)	Primary pulmonary hypertension	GLikely benign
Select item 2853964	NM_001204.7(BMPR2):c.967+13A>G	BMPR2	Single nucleotide variant (intron variant)	Primary pulmonary hypertension	GLikely benign
Select item 2846176	NM_001204.7(BMPR2):c.2353G>T (p.Glu785Ter)	BMPR2 (E785*)	Single nucleotide variant (nonsense)	Primary pulmonary hypertension	GPathogenic
Select item 2839121	NM_001204.7(BMPR2):c.2264C>T (p.Pro755Leu)	BMPR2 (P755L)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GLikely benign
Select item 2829415	NM_001204.7(BMPR2):c.2132_2133del (p.Ile711fs)	BMPR2 (I711fs)	Deletion (frameshift variant)	Primary pulmonary hypertension	GPathogenic
Select item 2827765	NM_001204.7(BMPR2):c.1220A>G (p.Tyr407Cys)	BMPR2 (Y407C)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GUncertain significance
Select item 2826959	NM_001204.7(BMPR2):c.871_872dup (p.Leu291fs)	BMPR2 (L291fs)	Duplication (frameshift variant)	Primary pulmonary hypertension	GPathogenic
Select item 2824222	NM_001204.7(BMPR2):c.663C>T (p.Ser221=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension	GLikely benign
Select item 2822132	NM_001204.7(BMPR2):c.2979T>C (p.Thr993=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension	GLikely benign
Select item 2820443	NM_001204.7(BMPR2):c.3108C>T (p.Asn1036=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension	GLikely benign
Select item 2820442	NM_001204.7(BMPR2):c.3107_3108insAG (p.Asn1036fs)	BMPR2 (N1036fs)	Insertion (frameshift variant)	Primary pulmonary hypertension	GUncertain significance
Select item 2812636	NM_001204.7(BMPR2):c.253T>C (p.Trp85Arg)	BMPR2 (W85R)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GUncertain significance
Select item 2805690	NM_001204.7(BMPR2):c.2310G>A (p.Arg770=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension	GLikely benign
Select item 2803852	NM_001204.7(BMPR2):c.1763A>G (p.Asn588Ser)	BMPR2 (N588S)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GUncertain significance
Select item 2803738	NM_001204.7(BMPR2):c.457A>G (p.Ile153Val)	BMPR2 (I153V)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GLikely benign
Select item 2789328	NM_001204.7(BMPR2):c.529+10dup	BMPR2	Duplication (intron variant)	Primary pulmonary hypertension	GLikely benign
Select item 2784020	NM_001204.7(BMPR2):c.247+8A>G	BMPR2	Single nucleotide variant (intron variant)	Primary pulmonary hypertension	GLikely benign
Select item 2779165	NM_001204.7(BMPR2):c.490T>C (p.Leu164=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension	GLikely benign
Select item 2771902	NM_001204.7(BMPR2):c.2094A>T (p.Pro698=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension	GLikely benign
Select item 2771776	NM_001204.7(BMPR2):c.1277-4A>G	BMPR2	Single nucleotide variant (intron variant)	Primary pulmonary hypertension	GLikely benign
Select item 2769789	NM_001204.7(BMPR2):c.1344T>C (p.Asp448=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension	GLikely benign
Select item 2765933	NM_001204.7(BMPR2):c.798_799dup (p.Val267fs)	BMPR2 (V267fs)	Microsatellite (frameshift variant)	Primary pulmonary hypertension	GPathogenic
Select item 2764690	NM_001204.7(BMPR2):c.116C>T (p.Pro39Leu)	BMPR2 (P39L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2764623	NM_001204.7(BMPR2):c.2319del (p.Phe773fs)	BMPR2 (F773fs)	Deletion (frameshift variant)	Primary pulmonary hypertension	GPathogenic
Select item 2758656	NM_001204.7(BMPR2):c.1751G>T (p.Arg584Leu)	BMPR2 (R584L)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GLikely benign
Select item 2754141	NM_001204.7(BMPR2):c.77-6T>G	BMPR2	Single nucleotide variant (intron variant)	Primary pulmonary hypertension	GUncertain significance
Select item 2753641	NM_001204.7(BMPR2):c.1276+16A>C	BMPR2	Single nucleotide variant (intron variant)	Primary pulmonary hypertension	GLikely benign
Select item 2746769	NM_001204.7(BMPR2):c.2889C>G (p.Gly963=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension	GLikely benign
Select item 2745613	NM_001204.7(BMPR2):c.76+2T>A	BMPR2	Single nucleotide variant (splice donor variant)	Primary pulmonary hypertension	GPathogenic
Select item 2737869	NM_001204.7(BMPR2):c.2358T>C (p.Thr786=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension	GLikely benign
Select item 2737723	NM_001204.7(BMPR2):c.815G>A (p.Arg272His)	BMPR2 (R272H)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GLikely benign
Select item 2737154	NM_001204.7(BMPR2):c.1316_1317del (p.Glu439fs)	BMPR2 (E439fs)	Microsatellite (frameshift variant)	Primary pulmonary hypertension	GPathogenic
Select item 2735433	NM_001204.7(BMPR2):c.254G>A (p.Trp85Ter)	BMPR2 (W85*)	Single nucleotide variant (nonsense)	Primary pulmonary hypertension	GPathogenic
Select item 2733576	NM_001204.7(BMPR2):c.2867-16G>A	BMPR2	Single nucleotide variant (intron variant)	Primary pulmonary hypertension	GLikely benign
Select item 2731982	NM_001204.7(BMPR2):c.530-13C>A	BMPR2	Single nucleotide variant (intron variant)	Primary pulmonary hypertension	GLikely benign
Select item 2731605	NM_001204.7(BMPR2):c.914C>T (p.Ala305Val)	BMPR2 (A305V)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GLikely benign
Select item 2730674	NM_001204.7(BMPR2):c.248-20G>C	BMPR2	Single nucleotide variant (intron variant)	Primary pulmonary hypertension	GLikely benign
Select item 2729593	NM_001204.7(BMPR2):c.804T>C (p.Thr268=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension	GLikely benign
Select item 2729217	NM_001204.7(BMPR2):c.76+17G>A	BMPR2	Single nucleotide variant (intron variant)	Primary pulmonary hypertension	GLikely benign
Select item 2727175	NM_001204.7(BMPR2):c.2142A>G (p.Ala714=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension	GLikely benign
Select item 2726190	NM_001204.7(BMPR2):c.29G>A (p.Arg10Gln)	BMPR2 (R10Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2724165	NM_001204.7(BMPR2):c.1837A>G (p.Thr613Ala)	BMPR2 (T613A)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GLikely benign
Select item 2723905	NM_001204.7(BMPR2):c.67A>G (p.Thr23Ala)	BMPR2 (T23A)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GBenign
Select item 2723610	NM_001204.7(BMPR2):c.3076A>G (p.Thr1026Ala)	BMPR2 (T1026A)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GLikely benign
Select item 2723560	NM_001204.7(BMPR2):c.969T>C (p.Asp323=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension	GLikely benign
Select item 2723333	NM_001204.7(BMPR2):c.2103T>C (p.Ser701=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension	GLikely benign
Select item 2723112	NM_001204.7(BMPR2):c.1735A>G (p.Ile579Val)	BMPR2 (I579V)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GLikely benign
Select item 2722709	NM_001204.7(BMPR2):c.1868G>A (p.Ser623Asn)	BMPR2 (S623N)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GLikely benign
Select item 2722443	NM_001204.7(BMPR2):c.2985G>A (p.Ser995=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension	GLikely benign
Select item 2721424	NM_001204.7(BMPR2):c.785T>C (p.Val262Ala)	BMPR2 (V262A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2720975	NM_001204.7(BMPR2):c.2958C>G (p.Pro986=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension	GLikely benign
Select item 2720468	NM_001204.7(BMPR2):c.776G>A (p.Arg259His)	BMPR2 (R259H)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GBenign
Select item 2718957	NM_001204.7(BMPR2):c.1114G>A (p.Ala372Thr)	BMPR2 (A372T)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GUncertain significance
Select item 2715932	NM_001204.7(BMPR2):c.1937C>T (p.Ala646Val)	BMPR2 (A646V)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GBenign
Select item 2715829	NM_001204.7(BMPR2):c.1093C>T (p.Arg365Cys)	BMPR2 (R365C)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GBenign
Select item 2715106	NM_001204.7(BMPR2):c.530-14T>C	BMPR2	Single nucleotide variant (intron variant)	Primary pulmonary hypertension	GBenign
Select item 2713472	NM_001204.7(BMPR2):c.272C>T (p.Pro91Leu)	BMPR2 (P91L)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GBenign
Select item 2713351	NM_001204.7(BMPR2):c.710G>A (p.Arg237His)	BMPR2 (R237H)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GLikely benign
Select item 2713114	NM_001204.7(BMPR2):c.2002C>G (p.Leu668Val)	BMPR2 (L668V)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GLikely benign

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