BMP3[gene] and "single gene"[properties] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2259176	NM_001201.5(BMP3):c.74C>G (p.Pro25Arg)	BMP3 (P25R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521905	NM_001201.5(BMP3):c.106G>T (p.Val36Leu)	BMP3 (V36L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134531	NM_001201.5(BMP3):c.107T>C (p.Val36Ala)	BMP3 (V36A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271700	NM_001201.5(BMP3):c.113G>T (p.Gly38Val)	BMP3 (G38V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609143	NM_001201.5(BMP3):c.119G>A (p.Arg40His)	BMP3 (R40H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134532	NM_001201.5(BMP3):c.198G>C (p.Arg66Ser)	BMP3 (R66S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134533	NM_001201.5(BMP3):c.260G>T (p.Arg87Leu)	BMP3 (R87L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480763	NM_001201.5(BMP3):c.265C>T (p.Arg89Trp)	BMP3 (R89W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134535	NM_001201.5(BMP3):c.457T>C (p.Ser153Pro)	BMP3 (S153P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387159	NM_001201.5(BMP3):c.467C>T (p.Ala156Val)	BMP3 (A156V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254314	NM_001201.5(BMP3):c.506C>G (p.Thr169Ser)	BMP3 (T169S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773708	NM_001201.5(BMP3):c.526C>A (p.Gln176Lys)	BMP3 (Q176K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3134536	NM_001201.5(BMP3):c.626C>T (p.Ala209Val)	BMP3 (A209V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391253	NM_001201.5(BMP3):c.664A>G (p.Thr222Ala)	BMP3 (T222A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775991	NM_001201.5(BMP3):c.665C>T (p.Thr222Met)	BMP3 (T222M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2229487	NM_001201.5(BMP3):c.695G>A (p.Arg232Lys)	BMP3 (R232K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603795	NM_001201.5(BMP3):c.742G>A (p.Ala248Thr)	BMP3 (A248T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134537	NM_001201.5(BMP3):c.781G>A (p.Gly261Arg)	BMP3 (G261R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376893	NM_001201.5(BMP3):c.787C>T (p.Arg263Trp)	BMP3 (R263W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134539	NM_001201.5(BMP3):c.854G>A (p.Arg285Gln)	BMP3 (R285Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206904	NM_001201.5(BMP3):c.875G>C (p.Gly292Ala)	BMP3 (G292A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605647	NM_001201.5(BMP3):c.955A>G (p.Lys319Glu)	BMP3 (K319E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551827	NM_001201.5(BMP3):c.980A>G (p.Gln327Arg)	BMP3 (Q327R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774615	NM_001201.5(BMP3):c.1035G>C (p.Lys345Asn)	BMP3 (K345N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 725576	NM_001201.5(BMP3):c.1043C>T (p.Thr348Met)	BMP3 (T348M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2549438	NM_001201.5(BMP3):c.1088A>T (p.Gln363Leu)	BMP3 (Q363L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284688	NM_001201.5(BMP3):c.1145T>C (p.Ile382Thr)	BMP3 (I382T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211860	NM_001201.5(BMP3):c.1375A>G (p.Lys459Glu)	BMP3 (K459E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 151723	GRCh38/hg38 4q21.21(chr4:81057364-81069232)x1	BMP3	Copy number loss	See cases	GUncertain significance
Select item 1527105	GRCh37/hg19 4q21.21(chr4:81939975-81957186)	BMP3	Copy number loss	not specified	GUncertain significance

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Items: 30