ClinVar for Gene (Select 9210) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370390	GRCh38/hg38 Xp11.22(chrX:50770594-51083187)x2	BMP15, LOC121627972 +2 more	Copy number gain	Intellectual disability	GLikely pathogenic
Select item 3244684	NC_000023.10:g.(?_46466387)_(51241672_?)dup	AKAP4, ARAF +91 more	Duplication	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3134513	NM_005448.2(BMP15):c.910G>A (p.Gly304Ser)	BMP15 (G304S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3134512	NM_005448.2(BMP15):c.730C>T (p.Arg244Trp)	BMP15 (R244W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3134511	NM_005448.2(BMP15):c.590A>T (p.Asn197Ile)	BMP15 (N197I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3134510	NM_005448.2(BMP15):c.262C>T (p.Arg88Cys)	BMP15 (R88C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062530	GRCh37/hg19 Xp11.22(chrX:50394843-50666385)	BMP15, SHROOM4	Copy number gain	not specified	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3049277	NM_005448.2(BMP15):c.409T>A (p.Tyr137Asn)	BMP15 (Y137N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3031725	NM_005448.2(BMP15):c.652C>T (p.Leu218Phe)	BMP15 (L218F)	Single nucleotide variant (missense variant)	BMP15-related disorder	GLikely benign
Select item 2685708	GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1	CCDC22, CFP +155 more	Copy number loss	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2684982	GRCh37/hg19 Xp11.22(chrX:50537803-51020291)x3	BMP15, SHROOM4	Copy number gain	not provided	GUncertain significance
Select item 2684981	GRCh37/hg19 Xp11.22(chrX:50394844-50657896)x3	BMP15, SHROOM4	Copy number gain	not provided	GUncertain significance
Select item 2684980	GRCh37/hg19 Xp11.23-11.22(chrX:48224455-52832596)x3	AKAP4, BMP15 +75 more	Copy number gain	not provided	GPathogenic
Select item 2664021	NM_005448.2(BMP15):c.611G>A (p.Arg204Gln)	BMP15 (R204Q)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 2	GUncertain significance
Select item 2557507	NM_005448.2(BMP15):c.806C>A (p.Ala269Glu)	BMP15 (A269E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554902	NM_005448.2(BMP15):c.1004C>A (p.Pro335His)	BMP15 (P335H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531359	NM_005448.2(BMP15):c.85G>A (p.Gly29Arg)	BMP15 (G29R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2493163	NM_005448.2(BMP15):c.529A>T (p.Met177Leu)	BMP15 (M177L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2456491	NM_005448.2(BMP15):c.1087G>A (p.Val363Ile)	BMP15 (V363I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445496	NC_000023.10:g.(?_46466387)_(51241672_?)del	AKAP4, ARAF +91 more	Deletion	not provided	GPathogenic
Select item 2439529	NM_005448.2(BMP15):c.731G>A (p.Arg244Gln)	BMP15 (R244Q)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 2	GUncertain significance
Select item 2425881	NC_000023.10:g.(?_46466387)_(50659607_?)del	GAGE12E, GAGE12F +89 more	Deletion	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GPathogenic
Select item 2425308	NC_000023.10:g.(?_48368209)_(51241672_?)del	AKAP4, BMP15 +60 more	Deletion	not provided	GPathogenic
Select item 2423581	NC_000023.10:g.(?_47001716)_(50659607_?)dup	AKAP4, ARAF +85 more	Duplication	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +2 more	GUncertain significance
Select item 2422979	NC_000023.10:g.(?_48368209)_(51241672_?)dup	CCDC120, CCDC22 +60 more	Duplication	SLC35A2-congenital disorder of glycosylation +4 more	GUncertain significance
Select item 2396286	NM_005448.2(BMP15):c.19C>G (p.Leu7Val)	BMP15 (L7V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387785	NM_005448.2(BMP15):c.862A>G (p.Asn288Asp)	BMP15 (N288D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387273	NM_005448.2(BMP15):c.755G>T (p.Gly252Val)	BMP15 (G252V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326363	NM_005448.2(BMP15):c.23G>T (p.Arg8Ile)	BMP15 (R8I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239510	NM_005448.2(BMP15):c.269T>C (p.Ile90Thr)	BMP15 (I90T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2078651	NM_005448.2(BMP15):c.166C>T (p.Gln56Ter)	BMP15 (Q56*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1808658	GRCh37/hg19 Xp11.4-11.22(chrX:39525562-52832596)x3	AKAP4, ARAF +126 more	Copy number gain	not provided	GPathogenic
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703583	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	ACE2, ACOT9 +315 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703582	Single allele	ADGRG2, ACE2 +309 more	Complex	Turner syndrome	GPathogenic
Select item 1703581	GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)	ACE2, ACOT9 +267 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +819 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	AKAP14, CT47A11 +819 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1696613	Single allele	BMP15, LOC121627972 +1 more	Duplication	not provided	GUncertain significance
Select item 1685576	NM_005448.2(BMP15):c.727A>G (p.Ile243Val)	BMP15 (I243V)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 2	GPathogenic
Select item 1685575	NM_005448.2(BMP15):c.661T>C (p.Trp221Arg)	BMP15 (W221R)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 2	GPathogenic
Select item 1685574	NM_005448.2(BMP15):c.617G>A (p.Arg206His)	BMP15 (R206H)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 2	GPathogenic
Select item 1685573	NM_005448.2(BMP15):c.413G>A (p.Arg138His)	BMP15 (R138H)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 2	GPathogenic
Select item 1676600	Single allele	NUDT10, NUDT11 +22 more	Deletion	X-linked intellectual disability, Stocco dos Santos type	GUncertain significance
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RADX, RAI2 +818 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	GPM6B, KLHL15 +818 more	Copy number gain	not provided	GPathogenic
Select item 1340100	GRCh37/hg19 Xp11.22(chrX:50587656-50777466)x0	BMP15	Copy number loss	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 1292837	NM_005448.2(BMP15):c.329-74A>C	BMP15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256036	NM_005448.2(BMP15):c.919C>T (p.His307Tyr)	BMP15 (H307Y)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1256010	NM_005448.2(BMP15):c.208A>C (p.Met70Leu)	BMP15 (M70L)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1218167	NC_000023.11:g.50916890_50916894del	BMP15	Deletion	not provided	GLikely benign
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
Select item 1180517	GRCh37/hg19 Xp11.23-11.22(chrX:47179068-54424785)x2	FAM156B, FOXP3 +109 more	Copy number gain	not provided	GPathogenic
Select item 992647	GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1	ACE2, ACOT9 +309 more	Copy number loss	not provided	GPathogenic
Select item 983193	GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1	ACE2, ACOT9 +304 more	Copy number loss	See cases	GPathogenic
Select item 979778	GRCh37/hg19 Xp11.23-11.22(chrX:48178413-52686510)x2	AKAP4, BMP15 +73 more	Copy number gain	not provided	GPathogenic
Select item 979777	GRCh37/hg19 Xp11.23-11.22(chrX:48102202-52685635)x2	AKAP4, BMP15 +74 more	Copy number gain	not provided	GPathogenic
Select item 979620	GRCh37/hg19 Xp11.22(chrX:50534326-50825153)x2	BMP15, SHROOM4	Copy number gain	not provided	GUncertain significance
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 973167	NM_005448.2(BMP15):c.-49_*34del (p.Met1fs)	BMP15 (M1fs)	Deletion (frameshift variant +3 more)	Ovarian dysgenesis 2	GPathogenic
Select item 973166	NM_005448.2(BMP15):c.462del (p.Trp155fs)	BMP15 (W155fs)	Deletion (frameshift variant)	Ovarian dysgenesis 2	GLikely pathogenic
Select item 914979	NM_005448.2(BMP15):c.520C>T (p.Pro174Ser)	BMP15 (P174S)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 2	GLikely benign
Select item 914978	NM_005448.2(BMP15):c.162C>T (p.Gly54=)	BMP15	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 913023	NM_005448.2(BMP15):c.920A>G (p.His307Arg)	BMP15 (H307R)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 2	GUncertain significance
Select item 913022	NM_005448.2(BMP15):c.811G>T (p.Gly271Cys)	BMP15 (G271C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 816350	GRCh37/hg19 Xp11.22(chrX:50032383-50694969)x3	DGKK, CCNB3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 816349	GRCh37/hg19 Xp11.23-11.22(chrX:48307437-50657313)x3	AKAP4, BMP15 +60 more	Copy number gain	not provided	GPathogenic
Select item 816270	GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1	ACE2, ACOT9 +305 more	Copy number loss	not provided	GPathogenic
Select item 694513	46,Y,inv(X)(p21.1q13.3)	ABCB7, AKAP4 +268 more	Inversion	Elevated circulating creatine kinase concentration	GLikely pathogenic
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	ARHGAP36, ARHGAP4 +818 more	Copy number loss	not provided	GPathogenic
Select item 687087	GRCh37/hg19 Xp11.23-11.22(chrX:48224266-52744574)x2	NUDT10, NUDT11 +73 more	Copy number gain	not provided	GPathogenic
Select item 685565	GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1	RBBP7, RBM10 +316 more	Copy number loss	not provided	GPathogenic
Select item 685331	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	BEX1, BEX2 +818 more	Copy number gain	not provided	GPathogenic
Select item 684962	GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1	ABCB7, AKAP4 +281 more	Copy number loss	not provided	GPathogenic
Select item 632053	NM_005448.2(BMP15):c.596del (p.Gly199fs)	BMP15 (G199fs)	Deletion (frameshift variant)	Ovarian dysgenesis 2	GUncertain significance
Select item 626291	Single allele	AKAP14, CCDC22 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 564844	GRCh37/hg19 Xp11.22(chrX:50394843-50659280)x2	SHROOM4, BMP15	Copy number gain	not provided	GLikely pathogenic
Select item 564842	GRCh37/hg19 Xp11.23-11.22(chrX:48156672-52672728)x1	AKAP4, BMP15 +72 more	Copy number loss	not provided	GPathogenic
Select item 564772	GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2	RPS6KA6, UPRT +413 more	Copy number gain	not provided	GPathogenic
Select item 549656	NC_000023.10:g.50653777_50689335del35559	BMP15	Deletion	Primary amenorrhea	GPathogenic
Select item 545551	NC_000023.10:g.36649710_136649711del100000002insG	AMER1, AMMECR1 +541 more	Indel	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 488014	Single allele	ARSF, CFAP47 +2632 more	Duplication	Autism +1 more	GPathogenic
Select item 443974	GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 443946	GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	EIF1AX, EIF2S3 +539 more	Copy number loss	See cases	GPathogenic
Select item 443504	GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1	PNMA5, PNMA6A +695 more	Copy number loss	See cases	GPathogenic
Select item 443322	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1	ACE2, ACOT9 +314 more	Copy number loss	See cases	GPathogenic
Select item 443190	GRCh37/hg19 Xp11.23-11.22(chrX:48290189-52154997)x4	AKAP4, BMP15 +67 more	Copy number gain	See cases	GPathogenic
Select item 443184	GRCh37/hg19 Xp11.23-11.22(chrX:48224454-52813336)x3	AKAP4, BMP15 +74 more	Copy number gain	See cases	GPathogenic
Select item 443028	GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1	SYN1, SYP +294 more	Copy number loss	See cases	GPathogenic
Select item 442832	GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1	ABCB7, AKAP4 +300 more	Copy number loss	See cases	GPathogenic
Select item 442724	GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	AP1S2, APEX2 +731 more	Copy number loss	See cases	GPathogenic
Select item 442354	GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686)	ABCB7, ACE2 +390 more	Copy number loss	See cases	GPathogenic
Select item 442162	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1	AP1S2, APEX2 +300 more	Copy number loss	See cases	GPathogenic

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