BMP3[gene] - ClinVar

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Search results

Items: 62

	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 1684642	NC_000004.12:g.67833055_82716065del	GRSF1, LOC126807079 +330 more	Deletion	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 149262	GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	ABRAXAS1, ADAMTS3 +331 more	Copy number gain	See cases	GPathogenic
Select item 57143	GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1	LOC129992714, LOC129992715 +236 more	Copy number loss	See cases	GPathogenic
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 59455	GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	ABCG2, ABRAXAS1 +251 more	Copy number loss	See cases	GPathogenic
Select item 146518	GRCh38/hg38 4q21.21-21.22(chr4:79742612-83153725)x1	ANTXR2, BMP3 +83 more	Copy number loss	See cases	GUncertain significance
Select item 147709	GRCh38/hg38 4q21.21-21.23(chr4:79786514-85832807)x1	BMP3, CDS1 +137 more	Copy number loss	See cases	GPathogenic
Select item 151718	GRCh38/hg38 4q21.21-21.3(chr4:80043949-86948317)x1	ABRAXAS1, AFF1 +146 more	Copy number loss	See cases	GPathogenic
Select item 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 145649	GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1	ABCG2, ABRAXAS1 +244 more	Copy number loss	See cases	GPathogenic
Select item 148797	GRCh38/hg38 4q21.21-21.23(chr4:80908016-84329610)x1	ABRAXAS1, BMP3 +90 more	Copy number loss	See cases	GLikely pathogenic
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 3062764	GRCh37/hg19 4q21.21-22.3(chr4:81558759-95965995)x1	ABCG2, ABRAXAS1 +59 more	Copy number loss	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SPATA18, SPATA4 +537 more	Copy number gain	not provided	GPathogenic
Select item 1527105	GRCh37/hg19 4q21.21(chr4:81939975-81957186)	BMP3	Copy number loss	not specified	GUncertain significance
Select item 1527103	GRCh37/hg19 4q21.21-22.1(chr4:81054789-90667421)	ABCG2, ABRAXAS1 +53 more	Copy number loss	not specified	GPathogenic
Select item 1527102	GRCh37/hg19 4q21.21-21.22(chr4:80865788-82927188)	ANTXR2, BMP3 +5 more	Copy number loss	not specified	GUncertain significance
Select item 1527100	GRCh37/hg19 4q21.21-22.2(chr4:79780152-94873225)	ABCG2, ABRAXAS1 +63 more	Copy number loss	not specified	GPathogenic
Select item 1527097	GRCh37/hg19 4q13.3-22.1(chr4:75737340-91131156)	ABCG2, ABRAXAS1 +91 more	Copy number gain	not specified	GPathogenic
Select item 1341211	GRCh37/hg19 4q21.21-22.1(chr4:80467886-93362064)x1	ABCG2, ABRAXAS1 +58 more	Copy number loss	not provided	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 983172	GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1	ABRAXAS1, ADAMTS3 +97 more	Copy number loss	See cases	GPathogenic
Select item 980098	GRCh37/hg19 4q21.21(chr4:81490292-81957186)x1	CFAP299, BMP3	Copy number loss	not provided	GUncertain significance
Select item 814566	GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1	CXCL3, LIN54 +82 more	Copy number loss	not provided	GPathogenic
Select item 687488	GRCh37/hg19 4q21.21-21.22(chr4:80199183-84074906)x1	ANTXR2, BMP3 +18 more	Copy number loss	not provided	GPathogenic
Select item 686225	GRCh37/hg19 4q21.1-21.23(chr4:78769297-84968832)x1	ABRAXAS1, ANTXR2 +29 more	Copy number loss	not provided	GPathogenic
Select item 685236	GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3	CCNG2, CCNI +109 more	Copy number gain	not provided	GPathogenic
Select item 638111	GRCh37/hg19 4q21.21-22.1(chr4:80482400-92572499)x1	GPRIN3, HELQ +57 more	Copy number loss	See cases	GPathogenic
Select item 562937	GRCh37/hg19 4q21.21-22.3(chr4:81314915-96636651)x1	ABCG2, ABRAXAS1 +60 more	Copy number loss	not provided	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic

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Items: 62