ClinVar for Gene (Select 4007) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309911	NM_006150.5(PRICKLE3):c.1709T>A (p.Leu570Gln)	PRICKLE3 (L502Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309910	NM_006150.5(PRICKLE3):c.281C>T (p.Ala94Val)	PRICKLE3 (A94V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3218664	NM_006150.5(PRICKLE3):c.583G>T (p.Gly195Cys)	PRICKLE3 (G195C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218663	NM_006150.5(PRICKLE3):c.473G>A (p.Arg158Gln)	PRICKLE3 (R90Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218662	NM_006150.5(PRICKLE3):c.233G>A (p.Arg78His)	PRICKLE3 (R10H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218661	NM_006150.5(PRICKLE3):c.209G>A (p.Cys70Tyr)	PRICKLE3 (C2Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218660	NM_006150.5(PRICKLE3):c.1814G>C (p.Arg605Pro)	PRICKLE3 (R537P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218659	NM_006150.5(PRICKLE3):c.1589G>A (p.Arg530His)	PRICKLE3 (R462H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218658	NM_006150.5(PRICKLE3):c.1358C>T (p.Ser453Phe)	PRICKLE3 (S453F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218657	NM_006150.5(PRICKLE3):c.1235C>T (p.Thr412Ile)	PRICKLE3 (T344I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218656	NM_006150.5(PRICKLE3):c.1211C>T (p.Ala404Val)	PRICKLE3 (A336V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218655	NM_006150.5(PRICKLE3):c.120C>A (p.His40Gln)	LOC119407419, PRICKLE3 (H40Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3218654	NM_006150.5(PRICKLE3):c.1187C>T (p.Ala396Val)	PRICKLE3 (A396V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218652	NM_006150.5(PRICKLE3):c.1153G>A (p.Gly385Ser)	PRICKLE3 (G317S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218651	NM_006150.5(PRICKLE3):c.1138C>T (p.Arg380Cys)	PRICKLE3 (R312C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218650	NM_006150.5(PRICKLE3):c.1066C>T (p.Arg356Cys)	PRICKLE3 (R288C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218649	NM_006150.5(PRICKLE3):c.1052G>A (p.Arg351His)	PRICKLE3 (R283H +1 more)	Single nucleotide variant (missense variant)	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 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)	not specified	GUncertain significance
Select item 2617125	NM_006150.5(PRICKLE3):c.1103T>C (p.Leu368Pro)	PRICKLE3 (L368P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613442	NM_006150.5(PRICKLE3):c.491G>A (p.Arg164Gln)	PRICKLE3 (R164Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590648	NM_006150.5(PRICKLE3):c.562G>A (p.Glu188Lys)	PRICKLE3 (E188K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508600	NM_006150.5(PRICKLE3):c.722G>A (p.Arg241His)	PRICKLE3 (R173H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507819	NM_006150.5(PRICKLE3):c.1822C>G (p.Arg608Gly)	PRICKLE3 (R608G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507491	NM_006150.5(PRICKLE3):c.1130C>T (p.Pro377Leu)	PRICKLE3 (P309L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 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)	not specified	GUncertain significance
Select item 2468277	NM_006150.5(PRICKLE3):c.1403G>T (p.Arg468Leu)	PRICKLE3 (R400L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445496	NC_000023.10:g.(?_46466387)_(51241672_?)del	AKAP4, ARAF +91 more	Deletion	not provided	GPathogenic
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 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	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 2394255	NM_006150.5(PRICKLE3):c.874A>G (p.Met292Val)	PRICKLE3 (M224V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378008	NM_006150.5(PRICKLE3):c.1210G>A (p.Ala404Thr)	PRICKLE3 (A404T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368492	NM_006150.5(PRICKLE3):c.791C>T (p.Thr264Met)	PRICKLE3 (T196M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341983	NM_006150.5(PRICKLE3):c.743G>A (p.Arg248His)	PRICKLE3 (R248H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337465	NM_006150.5(PRICKLE3):c.1264C>T (p.Pro422Ser)	PRICKLE3 (P354S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326061	NM_006150.5(PRICKLE3):c.611G>A (p.Arg204His)	PRICKLE3 (R136H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325476	NM_006150.5(PRICKLE3):c.533C>G (p.Pro178Arg)	PRICKLE3 (P110R +1 more)	Single nucleotide variant (missense variant)	not provided +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)	not specified	GUncertain significance
Select item 2299451	NM_006150.5(PRICKLE3):c.68G>C (p.Arg23Pro)	LOC119407419, PRICKLE3 (R23P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2279357	NM_006150.5(PRICKLE3):c.511C>T (p.Arg171Cys)	PRICKLE3 (R103C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255041	NM_006150.5(PRICKLE3):c.806G>A (p.Arg269His)	PRICKLE3 (R201H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252172	NM_006150.5(PRICKLE3):c.1783C>T (p.Leu595Phe)	PRICKLE3 (L527F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241116	NM_006150.5(PRICKLE3):c.1009C>T (p.Arg337Cys)	PRICKLE3 (R337C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237234	NM_006150.5(PRICKLE3):c.578T>C (p.Ile193Thr)	PRICKLE3 (I125T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226954	NM_006150.5(PRICKLE3):c.1091G>A (p.Arg364Gln)	PRICKLE3 (R296Q +1 more)	Single nucleotide variant (missense variant)	not specified	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	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 1411770	NC_000023.10:g.(?_48932462)_(49840657_?)dup	GAGE12E, GAGE12F +31 more	Duplication	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	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 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 1007859	NC_000023.10:g.(?_48382160)_(49856876_?)dup	CACNA1F, CCDC120 +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 +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 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	AKAP14, CCDC22 +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	RPS6KA6, UPRT +413 more	Copy number gain	not provided	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

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