BMP8A[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59934	GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1	AKIRIN1, BMP8A +268 more	Copy number loss	See cases	GPathogenic
Select item 155202	GRCh38/hg38 1p34.3(chr1:38490485-39548775)x1	AKIRIN1, BMP8A +53 more	Copy number loss	See cases	GLikely benign
Select item 58072	GRCh38/hg38 1p34.3-34.2(chr1:39360747-40900817)x3	BMP8A, BMP8B +129 more	Copy number gain	See cases	GPathogenic
Select item 152767	GRCh38/hg38 1p34.3(chr1:39447541-39569990)x3	BMP8A, LOC129930214 +7 more	Copy number gain	See cases	GUncertain significance
Select item 2269887	NM_181809.4(BMP8A):c.10C>A (p.Arg4Ser)	BMP8A (R4S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134574	NM_181809.4(BMP8A):c.62G>A (p.Gly21Asp)	BMP8A (G21D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224933	NM_181809.4(BMP8A):c.85C>G (p.Pro29Ala)	BMP8A (P29A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233191	NM_181809.4(BMP8A):c.176G>A (p.Arg59Gln)	BMP8A (R59Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134569	NM_181809.4(BMP8A):c.224T>G (p.Leu75Arg)	BMP8A (L75R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024983	NM_181809.4(BMP8A):c.256G>A (p.Gly86Ser)	BMP8A (G86S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3134570	NM_181809.4(BMP8A):c.261C>G (p.Asp87Glu)	BMP8A (D87E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332983	NM_181809.4(BMP8A):c.281C>T (p.Pro94Leu)	BMP8A (P94L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638714	NM_181809.4(BMP8A):c.327C>T (p.Val109=)	BMP8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3134571	NM_181809.4(BMP8A):c.413G>A (p.Gly138Glu)	BMP8A (G138E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253905	NM_181809.4(BMP8A):c.431C>T (p.Ala144Val)	BMP8A (A144V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3134572	NM_181809.4(BMP8A):c.494T>C (p.Met165Thr)	BMP8A (M165T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134573	NM_181809.4(BMP8A):c.601G>A (p.Ala201Thr)	BMP8A (A201T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565672	NM_181809.4(BMP8A):c.629G>A (p.Arg210His)	BMP8A (R210H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486022	NM_181809.4(BMP8A):c.667G>A (p.Glu223Lys)	BMP8A (E223K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134575	NM_181809.4(BMP8A):c.682G>A (p.Val228Met)	BMP8A (V228M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295151	NM_181809.4(BMP8A):c.700G>A (p.Gly234Ser)	BMP8A (G234S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601508	NM_181809.4(BMP8A):c.742G>A (p.Val248Met)	BMP8A (V248M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2211076	NM_181809.4(BMP8A):c.788G>A (p.Arg263Gln)	BMP8A (R263Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226906	NM_181809.4(BMP8A):c.790G>A (p.Ala264Thr)	BMP8A (A264T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550596	NM_181809.4(BMP8A):c.818C>T (p.Pro273Leu)	BMP8A (P273L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767666	NM_181809.4(BMP8A):c.878G>A (p.Arg293His)	BMP8A (R293H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2281012	NM_181809.4(BMP8A):c.896A>G (p.Gln299Arg)	BMP8A (Q299R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134576	NM_181809.4(BMP8A):c.904C>T (p.Arg302Cys)	BMP8A (R302C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222451	NM_181809.4(BMP8A):c.905G>A (p.Arg302His)	BMP8A (R302H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592937	NM_181809.4(BMP8A):c.907C>T (p.Arg303Trp)	BMP8A (R303W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211697	NM_181809.4(BMP8A):c.913G>A (p.Glu305Lys)	BMP8A (E305K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471260	NM_181809.4(BMP8A):c.920A>C (p.Tyr307Ser)	BMP8A (Y307S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594304	NM_181809.4(BMP8A):c.922G>A (p.Val308Ile)	BMP8A (V308I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531005	NM_181809.4(BMP8A):c.926G>T (p.Ser309Ile)	BMP8A (S309I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210750	NM_181809.4(BMP8A):c.940G>A (p.Gly314Ser)	BMP8A (G314S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356167	NM_181809.4(BMP8A):c.1010C>T (p.Pro337Leu)	BMP8A (P337L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306018	NM_181809.4(BMP8A):c.1057C>G (p.Leu353Val)	BMP8A (L353V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367098	NM_181809.4(BMP8A):c.1078A>G (p.Asn360Asp)	BMP8A (N360D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2317799	NM_181809.4(BMP8A):c.1120G>A (p.Ala374Thr)	BMP8A (A374T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526937	GRCh37/hg19 1p34.3-34.2(chr1:38679545-42556292)	AKIRIN1, BMP8A +40 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 988903	GRCh37/hg19 1p34.3-34.2(chr1:39340597-40603856)x1	CAP1, GJA9 +18 more	Copy number loss	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 48