"PreventionGenetics, part of Exact Sciences"[submitter] AND "BMPR2"[ge - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3049579	NM_001204.7(BMPR2):c.-963GGC[8]	BMPR2, LOC129935432	Microsatellite (5 prime UTR variant)	BMPR2-related disorder	GLikely benign
Select item 3041823	NM_001204.7(BMPR2):c.-963GGC[9]	BMPR2, LOC129935432	Microsatellite (5 prime UTR variant)	BMPR2-related disorder	GBenign
Select item 333634	NM_001204.7(BMPR2):c.-301G>A	BMPR2	Single nucleotide variant (5 prime UTR variant)	Pulmonary hypertension, primary, 1 +4 more	GBenign/Likely benign
Select item 425685	NM_001204.7(BMPR2):c.48G>A (p.Trp16Ter)	BMPR2 (W16*)	Single nucleotide variant (nonsense)	Primary pulmonary hypertension +2 more	GPathogenic
Select item 333638	NM_001204.7(BMPR2):c.86A>G (p.Asn29Ser)	BMPR2 (N29S)	Single nucleotide variant (missense variant)	BMPR2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 425708	NM_001204.7(BMPR2):c.156_157del (p.Ser52_His53insTer)	BMPR2	Microsatellite (frameshift variant)	BMPR2-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 697557	NM_001204.7(BMPR2):c.230T>C (p.Ile77Thr)	BMPR2 (I77T)	Single nucleotide variant (missense variant)	BMPR2-related disorder +1 more	GLikely benign
Select item 2630809	NM_001204.7(BMPR2):c.345C>G (p.Phe115Leu)	BMPR2 (F115L)	Single nucleotide variant (missense variant)	BMPR2-related disorder	GUncertain significance
Select item 162791	NM_001204.7(BMPR2):c.600A>C (p.Leu200=)	BMPR2	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 1 +5 more	GBenign/Likely benign
Select item 257624	NM_001204.7(BMPR2):c.621+37C>G	BMPR2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 212810	NM_001204.7(BMPR2):c.797G>C (p.Arg266Thr)	BMPR2 (R266T)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GUncertain significance FDA Recognized database
Select item 257625	NM_001204.7(BMPR2):c.853-21dup	BMPR2	Duplication (intron variant)	not specified +1 more	GLikely benign
Select item 2603376	NM_001204.7(BMPR2):c.1095C>T (p.Arg365=)	BMPR2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 8802	NM_001204.7(BMPR2):c.1471C>T (p.Arg491Trp)	BMPR2 (R491W)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 425966	NM_001204.7(BMPR2):c.1766A>G (p.Tyr589Cys)	BMPR2 (Y589C)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GLikely benign FDA Recognized database
Select item 136528	NM_001204.7(BMPR2):c.2324G>A (p.Ser775Asn)	BMPR2 (S775N)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 136529	NM_001204.7(BMPR2):c.2811G>A (p.Arg937=)	BMPR2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 2630689	NM_001204.7(BMPR2):c.2902G>C (p.Gly968Arg)	BMPR2 (G968R)	Single nucleotide variant (missense variant)	BMPR2-related disorder	GUncertain significance
Select item 2631789	NM_001204.7(BMPR2):c.2982A>C (p.Glu994Asp)	BMPR2 (E994D)	Single nucleotide variant (missense variant)	BMPR2-related disorder	GUncertain significance