C4552070[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 333616	NM_001204.7(BMPR2):c.-1114A>C	BMPR2, LOC129935432	Single nucleotide variant (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 896766	NM_001204.7(BMPR2):c.-1029G>A	BMPR2, LOC129935432	Single nucleotide variant (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 333617	NM_001204.7(BMPR2):c.-963GGC[13]	BMPR2, LOC129935432	Microsatellite (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 333618	NM_001204.7(BMPR2):c.-963GGC[11]	BMPR2, LOC129935432	Microsatellite (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 333619	NM_001204.7(BMPR2):c.-933G>A	BMPR2	Single nucleotide variant (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 896767	NM_001204.7(BMPR2):c.-930G>A	BMPR2	Single nucleotide variant (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 333620	NM_001204.7(BMPR2):c.-927AGC[4]	BMPR2	Microsatellite (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GLikely benign
Select item 333622	NM_001204.7(BMPR2):c.-927A>G	BMPR2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 333621	NM_001204.7(BMPR2):c.-927_-924delinsGGCGGCGGCGGCG	BMPR2	Indel (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 897238	NM_001204.7(BMPR2):c.-924A>G	BMPR2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 333623	NM_001204.7(BMPR2):c.-922C>T	BMPR2	Single nucleotide variant (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 333624	NM_001204.7(BMPR2):c.-871G>A	BMPR2	Single nucleotide variant (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 333625	NM_001204.7(BMPR2):c.-837G>T	BMPR2	Single nucleotide variant (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 333626	NM_001204.7(BMPR2):c.-753C>T	BMPR2	Single nucleotide variant (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 333627	NM_001204.7(BMPR2):c.-704C>G	BMPR2	Single nucleotide variant (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GBenign
Select item 333628	NM_001204.7(BMPR2):c.-702C>T	BMPR2	Single nucleotide variant (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 333629	NM_001204.7(BMPR2):c.-669G>A	BMPR2, LOC129935434	Single nucleotide variant (5 prime UTR variant)	not specified +4 more	GBenign/Likely benign
Select item 333630	NM_001204.7(BMPR2):c.-594A>G	BMPR2	Single nucleotide variant (5 prime UTR variant)	Primary pulmonary hypertension +1 more	GUncertain significance
Select item 333631	NM_001204.7(BMPR2):c.-575A>T	BMPR2	Single nucleotide variant (5 prime UTR variant)	Pulmonary hypertension, primary, 1	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 898416	NM_001204.7(BMPR2):c.-425G>T	BMPR2	Single nucleotide variant (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
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 898417	NM_001204.7(BMPR2):c.-344G>T	BMPR2	Single nucleotide variant (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 898418	NM_001204.7(BMPR2):c.-313G>A	BMPR2	Single nucleotide variant (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 333633	NM_001204.7(BMPR2):c.-310A>G	BMPR2	Single nucleotide variant (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GLikely benign
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 333635	NM_001204.7(BMPR2):c.-212dup	BMPR2	Duplication (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 333636	NM_001204.7(BMPR2):c.-93A>G	BMPR2	Single nucleotide variant (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GBenign
Select item 333637	NM_001204.7(BMPR2):c.-70G>T	BMPR2	Single nucleotide variant (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 695404	NM_001204.7(BMPR2):c.9C>A (p.Ser3=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension +2 more	GBenign
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 895426	NM_001204.7(BMPR2):c.81G>A (p.Ser27=)	BMPR2	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 1 +1 more	GBenign
Select item 333638	NM_001204.7(BMPR2):c.86A>G (p.Asn29Ser)	BMPR2 (N29S)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension +3 more	GConflicting classifications of pathogenicity
Select item 895427	NM_001204.7(BMPR2):c.111A>G (p.Lys37=)	BMPR2	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 896820	NM_001204.7(BMPR2):c.198C>T (p.Cys66=)	BMPR2	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 896821	NM_001204.7(BMPR2):c.248-3T>C	BMPR2	Single nucleotide variant (intron variant)	Pulmonary hypertension, primary, 1	GBenign
Select item 896822	NM_001204.7(BMPR2):c.261C>T (p.His87=)	BMPR2	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 1	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 162791	NM_001204.7(BMPR2):c.600A>C (p.Leu200=)	BMPR2	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 333639	NM_001204.7(BMPR2):c.621+8T>C	BMPR2	Single nucleotide variant (intron variant)	Primary pulmonary hypertension +1 more	GBenign
Select item 333640	NM_001204.7(BMPR2):c.674G>A (p.Arg225His)	BMPR2 (R225H)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1 +2 more	GBenign/Likely benign
Select item 333641	NM_001204.7(BMPR2):c.708C>T (p.Asn236=)	BMPR2	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 897317	NM_001204.7(BMPR2):c.748C>T (p.Pro250Ser)	BMPR2 (P250S)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1 +1 more	GUncertain significance
Select item 897318	NM_001204.7(BMPR2):c.798A>T (p.Arg266Ser)	BMPR2 (R266S)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 696596	NM_001204.7(BMPR2):c.981T>C (p.Pro327=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension +2 more	GBenign/Likely benign
Select item 333642	NM_001204.7(BMPR2):c.1042G>A (p.Val348Ile)	BMPR2 (V348I)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension +3 more	GConflicting classifications of pathogenicity
Select item 897319	NM_001204.7(BMPR2):c.1284C>T (p.Ser428=)	BMPR2	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 1 +2 more	GConflicting classifications of pathogenicity
Select item 333643	NM_001204.7(BMPR2):c.1302G>A (p.Met434Ile)	BMPR2 (M434I)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GLikely benign
Select item 333644	NM_001204.7(BMPR2):c.1414-3C>T	BMPR2	Single nucleotide variant (intron variant)	Pulmonary hypertension, primary, 1 +1 more	GBenign
Select item 897320	NM_001204.7(BMPR2):c.1414G>A (p.Ala472Thr)	BMPR2 (A472T)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 333645	NM_001204.7(BMPR2):c.1481C>T (p.Ala494Val)	BMPR2 (A494V)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1 +1 more	GLikely benign
Select item 898481	NM_001204.7(BMPR2):c.1512T>G (p.Leu504=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension +1 more	GConflicting classifications of pathogenicity
Select item 706547	NM_001204.7(BMPR2):c.1545C>T (p.Ser515=)	BMPR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 898483	NM_001204.7(BMPR2):c.1607G>A (p.Arg536His)	BMPR2 (R536H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 898484	NM_001204.7(BMPR2):c.1611G>A (p.Val537=)	BMPR2	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 898485	NM_001204.7(BMPR2):c.1677T>A (p.Thr559=)	BMPR2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 898486	NM_001204.7(BMPR2):c.1698T>A (p.Ile566=)	BMPR2	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 1 +1 more	GConflicting classifications of pathogenicity
Select item 425966	NM_001204.7(BMPR2):c.1766A>G (p.Tyr589Cys)	BMPR2 (Y589C)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension +2 more	GBenign/Likely benign
Select item 895484	NM_001204.7(BMPR2):c.1835C>T (p.Thr612Ile)	BMPR2 (T612I)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 333646	NM_001204.7(BMPR2):c.1862C>A (p.Thr621Lys)	BMPR2 (T621K)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GLikely benign
Select item 811938	NM_001204.7(BMPR2):c.2228A>G (p.Tyr743Cys)	BMPR2 (Y743C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 136528	NM_001204.7(BMPR2):c.2324G>A (p.Ser775Asn)	BMPR2 (S775N)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1 +3 more	GBenign
Select item 333647	NM_001204.7(BMPR2):c.2352C>T (p.Val784=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension +1 more	GConflicting classifications of pathogenicity
Select item 333648	NM_001204.7(BMPR2):c.2379A>C (p.Thr793=)	BMPR2	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 1 +1 more	GBenign/Likely benign
Select item 895485	NM_001204.7(BMPR2):c.2645G>T (p.Gly882Val)	BMPR2 (G882V)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 333649	NM_001204.7(BMPR2):c.2748T>C (p.Leu916=)	BMPR2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
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 896890	NM_001204.7(BMPR2):c.2807A>G (p.Gln936Arg)	BMPR2 (Q936R)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 136529	NM_001204.7(BMPR2):c.2811G>A (p.Arg937=)	BMPR2	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 1 +3 more	GBenign
Select item 333651	NM_001204.7(BMPR2):c.2887G>T (p.Gly963Cys)	BMPR2 (G963C)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension +2 more	GConflicting classifications of pathogenicity
Select item 333652	NM_001204.7(BMPR2):c.2948G>A (p.Arg983Gln)	BMPR2 (R983Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 896891	NM_001204.7(BMPR2):c.2960C>T (p.Ser987Phe)	BMPR2 (S987F)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1 +1 more	GLikely benign
Select item 333653	NM_001204.7(BMPR2):c.*79del	BMPR2	Deletion (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 333654	NM_001204.7(BMPR2):c.*77A>G	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 333655	NM_001204.7(BMPR2):c.*106C>T	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GBenign
Select item 897396	NM_001204.7(BMPR2):c.*121C>A	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 333656	NM_001204.7(BMPR2):c.*130G>C	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GBenign
Select item 333657	NM_001204.7(BMPR2):c.*221C>T	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GBenign
Select item 333658	NM_001204.7(BMPR2):c.*241C>T	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 333659	NM_001204.7(BMPR2):c.*309del	BMPR2	Deletion (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 333660	NM_001204.7(BMPR2):c.*378T>G	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GBenign
Select item 897397	NM_001204.7(BMPR2):c.*445T>C	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 897398	NM_001204.7(BMPR2):c.*453C>A	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 333661	NM_001204.7(BMPR2):c.*454G>A	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 898552	NM_001204.7(BMPR2):c.*488C>A	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 898553	NM_001204.7(BMPR2):c.*491T>A	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 898554	NM_001204.7(BMPR2):c.*607C>T	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 333662	NM_001204.7(BMPR2):c.*686C>G	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 333663	NM_001204.7(BMPR2):c.*700T>C	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 898555	NM_001204.7(BMPR2):c.*734G>C	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 333664	NM_001204.7(BMPR2):c.*806C>T	BMPR2	Single nucleotide variant (3 prime UTR variant)	Primary pulmonary hypertension +1 more	GBenign
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 895566	NM_001204.7(BMPR2):c.*896T>C	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 895567	NM_001204.7(BMPR2):c.*952T>G	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 333666	NM_001204.7(BMPR2):c.*995G>A	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GBenign
Select item 333667	NM_001204.7(BMPR2):c.*1226C>A	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GBenign
Select item 333668	NM_001204.7(BMPR2):c.*1236C>A	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GBenign
Select item 333669	NM_001204.7(BMPR2):c.1268_1269del	BMPR2	Deletion (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 333670	NM_001204.7(BMPR2):c.*1306A>C	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GBenign

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