BMP2K[gene] - ClinVar

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Items: 50

	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	AMTN, LINC02499 +330 more	Deletion	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992716, LOC129992717 +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	LOC129992733, LOC129992734 +236 more	Copy number loss	See cases	GPathogenic
Select item 152987	GRCh38/hg38 4q21.1-21.21(chr4:75801143-79005805)x3	ANXA3, ART3 +107 more	Copy number gain	See cases	GPathogenic
Select item 3024368	GRCh38/hg38 4q21.21(chr4:78722180-79522307)	BMP2K, BMP2K-DT +15 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 2612410	NM_198892.2(BMP2K):c.59G>C (p.Gly20Ala)	BMP2K (G20A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221997	NM_198892.2(BMP2K):c.71G>A (p.Gly24Asp)	BMP2K (G24D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375461	NM_198892.2(BMP2K):c.149A>C (p.Gln50Pro)	BMP2K (Q50P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554229	NM_198892.2(BMP2K):c.250A>G (p.Asn84Asp)	BMP2K (N84D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492992	NM_198892.2(BMP2K):c.340T>A (p.Cys114Ser)	BMP2K (C114S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231524	NM_198892.2(BMP2K):c.376G>A (p.Val126Ile)	BMP2K (V126I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593289	NM_198892.2(BMP2K):c.443C>T (p.Thr148Met)	BMP2K (T148M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310527	NM_198892.2(BMP2K):c.686A>G (p.Tyr229Cys)	BMP2K (Y229C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552559	NM_198892.2(BMP2K):c.746T>C (p.Ile249Thr)	BMP2K (I249T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541343	NM_198892.2(BMP2K):c.830A>G (p.Asn277Ser)	BMP2K (N277S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2492832	NM_198892.2(BMP2K):c.853C>T (p.Arg285Cys)	BMP2K (R285C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528031	NM_198892.2(BMP2K):c.997A>G (p.Ile333Val)	BMP2K (I333V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590953	NM_198892.2(BMP2K):c.1019C>T (p.Pro340Leu)	BMP2K (P340L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245605	NM_198892.2(BMP2K):c.1160T>G (p.Leu387Arg)	BMP2K (L387R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349161	NM_198892.2(BMP2K):c.1285C>A (p.Gln429Lys)	BMP2K (Q429K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307444	NM_198892.2(BMP2K):c.1594C>G (p.Gln532Glu)	BMP2K (Q532E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310206	NM_198892.2(BMP2K):c.1596G>C (p.Gln532His)	BMP2K (Q532H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384829	NM_198892.2(BMP2K):c.1664C>T (p.Pro555Leu)	BMP2K (P555L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261654	NM_198892.2(BMP2K):c.1732T>C (p.Tyr578His)	BMP2K (Y578H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373191	NM_198892.2(BMP2K):c.1790A>G (p.Asn597Ser)	BMP2K (N597S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491179	NM_198892.2(BMP2K):c.1855C>T (p.Pro619Ser)	BMP2K (P619S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515379	NM_198892.2(BMP2K):c.1898C>G (p.Ser633Cys)	BMP2K (S633C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206641	NM_198892.2(BMP2K):c.1905A>C (p.Leu635Phe)	BMP2K (L635F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378029	NM_198892.2(BMP2K):c.2024A>G (p.Glu675Gly)	PAQR3, BMP2K (E675G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226894	NM_198892.2(BMP2K):c.2146C>T (p.Pro716Ser)	BMP2K, PAQR3 (P716S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276000	NM_198892.2(BMP2K):c.2791G>A (p.Val931Ile)	PAQR3, BMP2K (V931I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2236573	NM_198892.2(BMP2K):c.3085T>A (p.Ser1029Thr)	PAQR3, BMP2K (S1029T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 218868	NM_198892.2(BMP2K):c.3481C>T (p.Gln1161Ter)	BMP2K, PAQR3 (Q1161*)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +1 more	GBenign/Likely benign
Select item 3062791	GRCh37/hg19 4q21.21(chr4:79086702-80588739)x1	ANXA3, BMP2K +4 more	Copy number loss	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	AADAT, AASDH +537 more	Copy number gain	not provided	GPathogenic
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 1527095	GRCh37/hg19 4q13.3-21.21(chr4:73055313-80083154)	CXCL5, CXCL6 +51 more	Copy number loss	not specified	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 814566	GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1	CXCL3, LIN54 +82 more	Copy number loss	not provided	GPathogenic
Select item 814563	GRCh37/hg19 4q13.2-21.21(chr4:68950363-79738598)x1	ADAMTS3, AFM +92 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 562935	GRCh37/hg19 4q21.21(chr4:79256988-81081299)x1	BMP2K, ANXA3 +6 more	Copy number loss	not provided	GUncertain significance
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	SCRG1, SDAD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	CCKAR, CWH43 +744 more	Copy number gain	See cases	GPathogenic

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Items: 50