"GeneDx"[submitter] AND "BMPR1B"[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 151714	GRCh38/hg38 4q22.1-24(chr4:92610413-101521991)x1	ADH1A, ADH1B +123 more	Copy number loss	See cases	GPathogenic
Select item 1208314	NM_001203.3(BMPR1B):c.-17-53019G>A	BMPR1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1302826	NM_001203.3(BMPR1B):c.-17-52461_-17-52458del	BMPR1B	Deletion (intron variant)	not provided	GBenign
Select item 1213412	NM_001203.3(BMPR1B):c.-17-52463C>T	BMPR1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1175514	NM_001203.3(BMPR1B):c.-17-52353A>T	BMPR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246297	NM_001203.3(BMPR1B):c.-17-257T>G	BMPR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202241	NM_001203.3(BMPR1B):c.-17-137A>G	BMPR1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 906582	NM_001203.3(BMPR1B):c.11G>A (p.Arg4Gln)	BMPR1B (R34Q +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 387086	NM_001203.3(BMPR1B):c.70A>G (p.Thr24Ala)	BMPR1B (T24A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1298963	NM_001203.3(BMPR1B):c.77G>C (p.Arg26Pro)	BMPR1B (R26P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1290691	NM_001203.3(BMPR1B):c.144-74AC[13]	BMPR1B	Microsatellite (intron variant)	not provided	GBenign
Select item 1187776	NM_001203.3(BMPR1B):c.144-74AC[14]	BMPR1B	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1269249	NM_001203.3(BMPR1B):c.144-74AC[9]	BMPR1B	Microsatellite (intron variant)	not provided	GBenign
Select item 1243358	NM_001203.3(BMPR1B):c.246+103A>G	BMPR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260012	NM_001203.3(BMPR1B):c.247-336C>A	BMPR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189702	NM_001203.3(BMPR1B):c.247-145A>G	BMPR1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179983	NM_001203.3(BMPR1B):c.247-143A>G	BMPR1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 283921	NM_001203.3(BMPR1B):c.247-4A>G	BMPR1B	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 285442	NM_001203.3(BMPR1B):c.289A>G (p.Thr97Ala)	BMPR1B (T97A +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +2 more	GConflicting classifications of pathogenicity
Select item 1243117	NM_001203.3(BMPR1B):c.350-149A>T	BMPR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235188	NM_001203.3(BMPR1B):c.447-300C>G	BMPR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 383191	NM_001203.3(BMPR1B):c.469C>T (p.Pro157Ser)	BMPR1B (P157S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1316061	NM_001203.3(BMPR1B):c.497A>G (p.Asp166Gly)	BMPR1B (D166G +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +2 more	GUncertain significance
Select item 1242434	NM_001203.3(BMPR1B):c.585+215C>A	BMPR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177921	NM_001203.3(BMPR1B):c.585+271A>G	BMPR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265780	NM_001203.3(BMPR1B):c.586-236G>A	BMPR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 6555	NM_001203.3(BMPR1B):c.599T>A (p.Ile200Lys)	BMPR1B (I200K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 350117	NM_001203.3(BMPR1B):c.671G>A (p.Arg224His)	BMPR1B (R224H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1315631	NM_001203.3(BMPR1B):c.762G>C (p.Arg254Ser)	BMPR1B (R254S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 418063	NM_001203.3(BMPR1B):c.769A>G (p.Asn257Asp)	BMPR1B (N257D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1193926	NM_001203.3(BMPR1B):c.778+99G>A	BMPR1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232601	NM_001203.3(BMPR1B):c.779-239C>T	BMPR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274037	NM_001203.3(BMPR1B):c.779-180T>C	BMPR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260036	NM_001203.3(BMPR1B):c.779-63A>G	BMPR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1320901	NM_001203.3(BMPR1B):c.838G>A (p.Asp280Asn)	BMPR1B (D280N +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +2 more	GUncertain significance
Select item 1320798	NM_001203.3(BMPR1B):c.895A>G (p.Lys299Glu)	BMPR1B (K299E +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +2 more	GUncertain significance
Select item 1041425	NM_001203.3(BMPR1B):c.1075A>G (p.Ser359Gly)	BMPR1B (S359G +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1921558	NM_001203.3(BMPR1B):c.1093G>A (p.Asp365Asn)	BMPR1B (D365N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1264408	NM_001203.3(BMPR1B):c.1252+223C>T	BMPR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255300	NM_001203.3(BMPR1B):c.1252+225A>C	BMPR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236219	NM_001203.3(BMPR1B):c.1253-40AAT[6]	BMPR1B	Microsatellite (intron variant)	not provided	GBenign
Select item 3367826	NM_001203.3(BMPR1B):c.1357T>C (p.Phe453Leu)	BMPR1B (F453L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1252708	NM_001203.3(BMPR1B):c.1383+32A>T	BMPR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182804	NM_001203.3(BMPR1B):c.1383+241A>G	BMPR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288487	NM_001203.3(BMPR1B):c.1383+281C>T	BMPR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211202	NM_001203.3(BMPR1B):c.1384-341T>G	BMPR1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 384012	NM_001203.3(BMPR1B):c.1448C>T (p.Thr483Ile)	BMPR1B (T483I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 6556	NM_001203.3(BMPR1B):c.1456C>T (p.Arg486Trp)	BMPR1B (R486W +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 287875	NM_001203.3(BMPR1B):c.*9G>C	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly +2 more	GLikely benign
Select item 350127	NM_001203.3(BMPR1B):c.*49C>T	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly +1 more	GBenign
Select item 350131	NM_001203.3(BMPR1B):c.*141C>T	BMPR1B	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 350132	NM_001203.3(BMPR1B):c.*195C>T	BMPR1B	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 350133	NM_001203.3(BMPR1B):c.*196A>G	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly +1 more	GBenign
Select item 350135	NM_001203.3(BMPR1B):c.*302dup	BMPR1B	Duplication (3 prime UTR variant)	Brachydactyly +1 more	GConflicting classifications of pathogenicity
Select item 1316987	NM_001203.3(BMPR1B):c.*302del	BMPR1B	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 253918	GRCh37/hg19 4q22.3(chr4:95492115-96061295)x3	PDLIM5, BMPR1B	Copy number gain	See cases	GUncertain significance

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Items: 57