"GeneDx"[submitter] AND "BMP15"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58615	GRCh38/hg38 Xp11.23-11.22(chrX:47859417-52789530)x3	AKAP4, BMP15 +213 more	Copy number gain	See cases	GPathogenic
Select item 136522	NM_005448.2(BMP15):c.-9C>G	BMP15	Single nucleotide variant (5 prime UTR variant)	Ovarian dysgenesis 2 +2 more	GBenign
Select item 259774	NM_005448.2(BMP15):c.13A>C (p.Ser5Arg)	BMP15 (S5R)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 11474	NM_005448.2(BMP15):c.202C>T (p.Arg68Trp)	BMP15 (R68W)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 2 +1 more	GConflicting classifications of pathogenicity
Select item 136523	NM_005448.2(BMP15):c.308A>G (p.Asn103Ser)	BMP15 (N103S)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 2 +2 more	GBenign
Select item 1292837	NM_005448.2(BMP15):c.329-74A>C	BMP15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 368538	NM_005448.2(BMP15):c.443T>C (p.Leu148Pro)	BMP15 (L148P)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 2 +1 more	GBenign/Likely benign
Select item 58616	GRCh38/hg38 Xp11.22(chrX:50916108-53902080)x2	BMP15, CENPVL1 +77 more	Copy number gain	See cases	GPathogenic
Select item 259775	NM_005448.2(BMP15):c.783TCT[3] (p.Leu263dup)	BMP15	Microsatellite (inframe_insertion)	Ovarian dysgenesis +2 more	GBenign
Select item 259776	NM_005448.2(BMP15):c.819A>C (p.Ser273=)	BMP15	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 259777	NM_005448.2(BMP15):c.852C>T (p.Ser284=)	BMP15	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 973168	NM_005448.2(BMP15):c.985C>T (p.Arg329Cys)	BMP15 (R329C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310097	NM_005448.2(BMP15):c.986G>A (p.Arg329His)	BMP15 (R329H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 368541	NM_005448.2(BMP15):c.1011C>T (p.His337=)	BMP15	Single nucleotide variant (synonymous variant)	Ovarian dysgenesis 2 +1 more	GBenign
Select item 259773	NM_005448.2(BMP15):c.*13G>A	BMP15	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign
Select item 1218167	NC_000023.11:g.50916890_50916894del	BMP15	Deletion	not provided	GLikely benign
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253615	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	ACE2, ACOT9 +316 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253571	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1	ACE2, ACOT9 +316 more	Copy number loss	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253436	GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3	ABCB7, AKAP4 +250 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic

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Items: 32