ClinVar for Gene (Select 27238) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3062092	NM_015698.6(GPKOW):c.1279G>C (p.Gly427Arg)	GPKOW (G427R)	Single nucleotide variant (missense variant)	Holoprosencephaly-hypokinesia-congenital contractures syndrome	GUncertain significance
Select item 3061022	NM_015698.6(GPKOW):c.456+10C>T	GPKOW	Single nucleotide variant (intron variant)	GPKOW-related condition	GBenign
Select item 3060823	NM_015698.6(GPKOW):c.1335G>A (p.Arg445=)	GPKOW	Single nucleotide variant (synonymous variant)	GPKOW-related condition	GBenign
Select item 3059955	NM_015698.6(GPKOW):c.11C>G (p.Ser4Cys)	GPKOW (S4C)	Single nucleotide variant (missense variant)	GPKOW-related condition	GBenign
Select item 3056587	NM_015698.6(GPKOW):c.1297-4C>T	GPKOW	Single nucleotide variant (intron variant)	GPKOW-related condition	GBenign
Select item 2744325	NM_015698.6(GPKOW):c.1211-4A>G	GPKOW	Single nucleotide variant (intron variant)	not provided	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 2684980	GRCh37/hg19 Xp11.23-11.22(chrX:48224455-52832596)x3	AKAP4, BMP15 +75 more	Copy number gain	not provided	GPathogenic
Select item 2660511	NM_015698.6(GPKOW):c.152C>T (p.Thr51Ile)	GPKOW (T51I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2660510	NM_015698.6(GPKOW):c.498C>T (p.Ala166=)	GPKOW	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2660509	NM_015698.6(GPKOW):c.1016G>A (p.Arg339Gln)	GPKOW (R339Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2622920	NM_015698.6(GPKOW):c.430G>A (p.Ala144Thr)	GPKOW (A144T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601418	NM_015698.6(GPKOW):c.421G>A (p.Gly141Arg)	GPKOW (G141R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589934	NM_015698.6(GPKOW):c.827C>T (p.Ala276Val)	GPKOW (A276V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568822	NM_015698.6(GPKOW):c.907G>A (p.Asp303Asn)	GPKOW (D303N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516390	NM_015698.6(GPKOW):c.838C>T (p.Arg280Trp)	GPKOW (R280W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509183	NM_015698.6(GPKOW):c.1172C>T (p.Thr391Ile)	GPKOW (T391I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2494934	NM_015698.6(GPKOW):c.141T>G (p.Asp47Glu)	GPKOW (D47E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478252	NM_015698.6(GPKOW):c.1083C>A (p.Asp361Glu)	GPKOW (D361E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476648	NM_015698.6(GPKOW):c.415C>T (p.Pro139Ser)	GPKOW (P139S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470889	NM_015698.6(GPKOW):c.394A>G (p.Met132Val)	GPKOW (M132V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467067	NM_015698.6(GPKOW):c.1184G>A (p.Arg395Gln)	GPKOW (R395Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459050	NM_015698.6(GPKOW):c.236G>T (p.Arg79Leu)	GPKOW (R79L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445496	NC_000023.10:g.(?_46466387)_(51241672_?)del	CCDC120, ZNF630 +91 more	Deletion	not provided	GPathogenic
Select item 2425881	NC_000023.10:g.(?_46466387)_(50659607_?)del	AKAP4, ARAF +89 more	Deletion	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GPathogenic
Select item 2425310	NC_000023.10:g.(?_48932462)_(49089771_?)dup	CACNA1F, GPKOW +5 more	Duplication	not provided	GUncertain significance
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	Neurodegeneration with brain iron accumulation 5 +2 more	GUncertain significance
Select item 2422979	NC_000023.10:g.(?_48368209)_(51241672_?)dup	CCNB3, AKAP4 +60 more	Duplication	Thrombocytopenia 1 +2 more	GUncertain significance
Select item 2356015	NM_015698.6(GPKOW):c.55A>G (p.Ile19Val)	GPKOW (I19V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303260	NM_015698.6(GPKOW):c.1088G>A (p.Arg363His)	GPKOW (R363H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298895	NM_015698.6(GPKOW):c.1327C>T (p.Arg443Trp)	GPKOW (R443W)	Single nucleotide variant (missense variant)	GPKOW-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2297440	NM_015698.6(GPKOW):c.745G>C (p.Val249Leu)	GPKOW (V249L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279302	NM_015698.6(GPKOW):c.445C>T (p.Arg149Trp)	GPKOW (R149W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265607	NM_015698.6(GPKOW):c.511A>G (p.Met171Val)	GPKOW (M171V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207163	NM_015698.6(GPKOW):c.1190A>C (p.Asp397Ala)	GPKOW (D397A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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	MIR224, MIR424 +793 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	CT55, CT83 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703751	NM_015698.6(GPKOW):c.331+5G>A	GPKOW	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 +822 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	SCML2, SEPTIN6 +822 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1411770	NC_000023.10:g.(?_48932462)_(49840657_?)dup	PPP1R3F, PRICKLE3 +31 more	Duplication	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	CXorf51B, GAGE12H +821 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	ABCB7, ABCD1 +821 more	Copy number gain	not provided	GPathogenic
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	CXorf49B, CXorf51A +821 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 1007859	NC_000023.10:g.(?_48382160)_(49856876_?)dup	TIMM17B, USP27X +52 more	Duplication	SLC35A2-congenital disorder of glycosylation +1 more	GUncertain significance
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 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 769176	NM_015698.6(GPKOW):c.863A>G (p.Tyr288Cys)	GPKOW (Y288C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 731666	NM_015698.6(GPKOW):c.429G>C (p.Gly143=)	GPKOW	Single nucleotide variant (synonymous variant)	GPKOW-related condition +1 more	GBenign
Select item 711049	NM_015698.6(GPKOW):c.366G>A (p.Ala122=)	GPKOW	Single nucleotide variant (synonymous variant)	GPKOW-related condition +1 more	GLikely benign
Select item 710096	NM_015698.6(GPKOW):c.385G>A (p.Ala129Thr)	GPKOW (A129T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 694513	46,Y,inv(X)(p21.1q13.3)	ABCB7, AKAP4 +270 more	Inversion	Elevated circulating creatine kinase concentration	GLikely pathogenic
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RBMXL3, RENBP +821 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	ZNF275, ZNF280C +821 more	Copy number gain	not provided	GPathogenic
Select item 684962	GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1	ITGB1BP2, RGN +281 more	Copy number loss	not provided	GPathogenic
Select item 638115	GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1	ACE2, ACOT9 +257 more	Copy number loss	See cases	GPathogenic
Select item 626291	Single allele	PAGE2B, PAGE3 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
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	ABCB7, ACE2 +415 more	Copy number gain	not provided	GPathogenic
Select item 545551	NC_000023.10:g.36649710_136649711del100000002insG	ADGRG4, ACTRT1 +541 more	Indel	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 488014	Single allele	ARMCX3, CT47A11 +2631 more	Duplication	Autism +1 more	GPathogenic
Select item 443974	GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	ABCB7, ABCD1 +821 more	Copy number gain	See cases	GPathogenic
Select item 443946	GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	BEX5, BMP15 +541 more	Copy number loss	See cases	GPathogenic
Select item 443504	GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1	ZCCHC12, ZCCHC13 +698 more	Copy number loss	See cases	GPathogenic
Select item 443322	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1	ACE2, ACOT9 +316 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	TCEANC, TFE3 +296 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	MAGEE1, MAGEE2 +733 more	Copy number loss	See cases	GPathogenic
Select item 442354	GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686)	ABCB7, ACE2 +392 more	Copy number loss	See cases	GPathogenic
Select item 442162	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1	ACE2, ACOT9 +302 more	Copy number loss	See cases	GPathogenic
Select item 442067	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1	ACE2, ACOT9 +314 more	Copy number loss	See cases	GPathogenic
Select item 441968	GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1	ACE2, ACOT9 +314 more	Copy number loss	See cases	GPathogenic
Select item 441856	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1	JADE3, KCND1 +315 more	Copy number loss	See cases	GPathogenic
Select item 425520	GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	AWAT2, BCLAF3 +568 more	Copy number gain	not provided	GUncertain significance
Select item 395718	GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	ABCB7, ABCD1 +822 more	Copy number loss	See cases	GPathogenic
Select item 395687	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	ABCB7, ABCD1 +822 more	Copy number loss	See cases	GPathogenic
Select item 395686	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	ABCB7, ABCD1 +822 more	Copy number gain	See cases	GPathogenic
Select item 395163	GRCh37/hg19 Xp11.23-11.22(chrX:48317353-51497588)x3	AKAP4, BMP15 +63 more	Copy number gain	See cases	GPathogenic
Select item 395162	GRCh37/hg19 Xp11.23-11.22(chrX:48317353-51497588)x2	AKAP4, BMP15 +63 more	Copy number gain	See cases	GPathogenic
Select item 394706	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3	ABCB7, ABCD1 +822 more	Copy number gain	See cases	GPathogenic
Select item 394672	GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1	EIF2S3, ELF4 +821 more	Copy number loss	See cases	GPathogenic
Select item 394013	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1	MAGEB17, MAGEB18 +822 more	Copy number loss	See cases	GPathogenic

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