ClinVar for Gene (Select 4007) - 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 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 2660516	NM_006150.5(PRICKLE3):c.717C>T (p.Cys239=)	PRICKLE3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660515	NM_006150.5(PRICKLE3):c.796G>T (p.Ala266Ser)	PRICKLE3 (A198S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660514	NM_006150.5(PRICKLE3):c.909C>T (p.Tyr303=)	PRICKLE3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660513	NM_006150.5(PRICKLE3):c.1394C>T (p.Ala465Val)	PRICKLE3 (A397V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2618029	NM_006150.5(PRICKLE3):c.1135C>T (p.Arg379Cys)	PRICKLE3 (R311C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617125	NM_006150.5(PRICKLE3):c.1103T>C (p.Leu368Pro)	PRICKLE3 (L368P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613442	NM_006150.5(PRICKLE3):c.491G>A (p.Arg164Gln)	PRICKLE3 (R164Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590648	NM_006150.5(PRICKLE3):c.562G>A (p.Glu188Lys)	PRICKLE3 (E188K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508600	NM_006150.5(PRICKLE3):c.722G>A (p.Arg241His)	PRICKLE3 (R173H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507819	NM_006150.5(PRICKLE3):c.1822C>G (p.Arg608Gly)	PRICKLE3 (R608G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507491	NM_006150.5(PRICKLE3):c.1130C>T (p.Pro377Leu)	PRICKLE3 (P309L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 2479329	NM_006150.5(PRICKLE3):c.1813C>G (p.Arg605Gly)	PRICKLE3 (R605G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468277	NM_006150.5(PRICKLE3):c.1403G>T (p.Arg468Leu)	PRICKLE3 (R400L +1 more)	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 2394255	NM_006150.5(PRICKLE3):c.874A>G (p.Met292Val)	PRICKLE3 (M224V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378008	NM_006150.5(PRICKLE3):c.1210G>A (p.Ala404Thr)	PRICKLE3 (A404T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368492	NM_006150.5(PRICKLE3):c.791C>T (p.Thr264Met)	PRICKLE3 (T196M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341983	NM_006150.5(PRICKLE3):c.743G>A (p.Arg248His)	PRICKLE3 (R248H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337465	NM_006150.5(PRICKLE3):c.1264C>T (p.Pro422Ser)	PRICKLE3 (P354S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326061	NM_006150.5(PRICKLE3):c.611G>A (p.Arg204His)	PRICKLE3 (R136H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325476	NM_006150.5(PRICKLE3):c.533C>G (p.Pro178Arg)	PRICKLE3 (P110R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2305710	NM_006150.5(PRICKLE3):c.1063C>T (p.Pro355Ser)	PRICKLE3 (P287S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299451	NM_006150.5(PRICKLE3):c.68G>C (p.Arg23Pro)	PRICKLE3, LOC119407419 (R23P)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2279357	NM_006150.5(PRICKLE3):c.511C>T (p.Arg171Cys)	PRICKLE3 (R103C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255041	NM_006150.5(PRICKLE3):c.806G>A (p.Arg269His)	PRICKLE3 (R201H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252172	NM_006150.5(PRICKLE3):c.1783C>T (p.Leu595Phe)	PRICKLE3 (L527F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241116	NM_006150.5(PRICKLE3):c.1009C>T (p.Arg337Cys)	PRICKLE3 (R337C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237234	NM_006150.5(PRICKLE3):c.578T>C (p.Ile193Thr)	PRICKLE3 (I125T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226954	NM_006150.5(PRICKLE3):c.1091G>A (p.Arg364Gln)	PRICKLE3 (R296Q +1 more)	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 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 992950	NM_006150.5(PRICKLE3):c.157C>T (p.Arg53Trp)	PRICKLE3 (R53W)	Single nucleotide variant (missense variant +1 more)	Leber optic atrophy	Grisk factor
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 810595	NM_006150.5(PRICKLE3):c.284G>A (p.Trp95Ter)	PRICKLE3 (W95* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
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
Select item 375647	NM_006150.5(PRICKLE3):c.609C>A (p.Ser203Arg)	PRICKLE3 (S203R +1 more)	Single nucleotide variant (missense variant)	Progressive sensorineural hearing impairment	GUncertain significance
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +822 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	GAGE12F, GAGE12G +822 more	Copy number gain	See cases	GPathogenic

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