ClinVar for Gene (Select 7224) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3058585	NM_012471.3(TRPC5):c.2133A>G (p.Gln711=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related condition	GLikely benign
Select item 3057707	NM_012471.3(TRPC5):c.1929G>A (p.Arg643=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related condition	GLikely benign
Select item 3055303	NM_012471.3(TRPC5):c.1809C>G (p.Thr603=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related condition	GBenign
Select item 3055228	NM_012471.3(TRPC5):c.804C>A (p.Ile268=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related condition	GLikely benign
Select item 3054050	NM_012471.3(TRPC5):c.186C>T (p.Asn62=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related condition	GLikely benign
Select item 3052160	NM_012471.3(TRPC5):c.189C>T (p.Ile63=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related condition	GLikely benign
Select item 3051440	NM_012471.3(TRPC5):c.54C>T (p.Ile18=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related condition	GLikely benign
Select item 3051317	NM_012471.3(TRPC5):c.2105G>A (p.Arg702His)	TRPC5 (R702H)	Single nucleotide variant (missense variant)	TRPC5-related condition	GLikely benign
Select item 3051281	NM_012471.3(TRPC5):c.1398G>A (p.Arg466=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related condition	GLikely benign
Select item 3048226	NM_012471.3(TRPC5):c.1014G>C (p.Gly338=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related condition	GLikely benign
Select item 3046877	NM_012471.3(TRPC5):c.1309C>T (p.Leu437=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related condition	GLikely benign
Select item 3045855	NM_012471.3(TRPC5):c.1238-7del	TRPC5	Deletion (intron variant)	TRPC5-related condition	GLikely benign
Select item 3045566	NM_012471.3(TRPC5):c.1637C>A (p.Ala546Asp)	TRPC5 (A546D)	Single nucleotide variant (missense variant)	TRPC5-related condition	GLikely benign
Select item 3043005	NM_012471.3(TRPC5):c.39G>T (p.Pro13=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related condition	GBenign
Select item 3042876	NM_012471.3(TRPC5):c.2674G>A (p.Glu892Lys)	TRPC5 (E892K)	Single nucleotide variant (missense variant)	TRPC5-related condition	GLikely benign
Select item 3042699	NM_012471.3(TRPC5):c.2367G>T (p.Gly789=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related condition	GLikely benign
Select item 3040298	NM_012471.3(TRPC5):c.2071C>T (p.Arg691Trp)	TRPC5 (R691W)	Single nucleotide variant (missense variant)	TRPC5-related condition	GLikely benign
Select item 3037643	NM_012471.3(TRPC5):c.58C>T (p.Leu20=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related condition	GLikely benign
Select item 3037041	NM_012471.3(TRPC5):c.597C>T (p.Ile199=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related condition	GLikely benign
Select item 3036606	NM_012471.3(TRPC5):c.717C>T (p.Ala239=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related condition	GLikely benign
Select item 3035930	NM_012471.3(TRPC5):c.1290C>T (p.Tyr430=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related condition	GLikely benign
Select item 3032701	NM_012471.3(TRPC5):c.1071G>A (p.Gly357=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related condition	GLikely benign
Select item 3032697	NM_012471.3(TRPC5):c.2289T>C (p.Asn763=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related condition	GLikely benign
Select item 3032168	NM_012471.3(TRPC5):c.1700+7C>T	TRPC5	Single nucleotide variant (intron variant)	TRPC5-related condition	GLikely benign
Select item 3032167	NM_012471.3(TRPC5):c.141T>G (p.Thr47=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related condition	GLikely benign
Select item 3031888	NM_012471.3(TRPC5):c.2232+9A>G	TRPC5	Single nucleotide variant (intron variant)	TRPC5-related condition	GLikely benign
Select item 3031626	NM_012471.3(TRPC5):c.177T>C (p.Tyr59=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related condition	GLikely benign
Select item 3031036	NM_012471.3(TRPC5):c.2829A>C (p.Ser943=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related condition	GLikely benign
Select item 3030559	NM_012471.3(TRPC5):c.195C>T (p.Cys65=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related condition	GLikely benign
Select item 3030483	NM_012471.3(TRPC5):c.2520T>A (p.Pro840=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related condition	GLikely benign
Select item 3029927	NM_012471.3(TRPC5):c.1434G>A (p.Ala478=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related condition	GLikely benign
Select item 3029850	NM_012471.3(TRPC5):c.2371C>A (p.Arg791=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related condition	GLikely benign
Select item 3029426	NM_012471.3(TRPC5):c.2734G>A (p.Ala912Thr)	TRPC5 (A912T)	Single nucleotide variant (missense variant)	TRPC5-related condition	GUncertain significance
Select item 3029251	NM_012471.3(TRPC5):c.1605G>T (p.Leu535=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related condition	GLikely benign
Select item 3029148	NM_012471.3(TRPC5):c.1641C>T (p.Ile547=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related condition	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	ALG13, AMMECR1 +488 more	Copy number gain	not provided	GPathogenic
Select item 2685762	GRCh37/hg19 Xq23(chrX:110999768-111110033)x2	ALG13, TRPC5	Copy number gain	not provided	GUncertain significance
Select item 2685761	GRCh37/hg19 Xq23-25(chrX:110921170-124327177)x2	AGTR2, AKAP14 +66 more	Copy number gain	not provided	GPathogenic
Select item 2685715	GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1	ACSL4, AGTR2 +175 more	Copy number loss	not provided	GPathogenic
Select item 2684996	GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3	ACSL4, AGTR2 +159 more	Copy number gain	not provided	GPathogenic
Select item 2661220	NM_012471.3(TRPC5):c.840C>T (p.Asp280=)	TRPC5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2661219	NM_012471.3(TRPC5):c.957C>T (p.Phe319=)	TRPC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661218	NM_012471.3(TRPC5):c.984A>G (p.Val328=)	TRPC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661217	NM_012471.3(TRPC5):c.1339C>T (p.Leu447=)	TRPC5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2661216	NM_012471.3(TRPC5):c.1419C>T (p.His473=)	TRPC5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2661215	NM_012471.3(TRPC5):c.2212C>A (p.Leu738Ile)	TRPC5 (L738I)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2661214	NM_012471.3(TRPC5):c.2580T>C (p.Ser860=)	TRPC5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2636855	NM_012471.3(TRPC5):c.367G>A (p.Gly123Arg)	TRPC5 (G123R)	Single nucleotide variant (missense variant)	TRPC5-related condition	GUncertain significance
Select item 2635753	NM_012471.3(TRPC5):c.664C>T (p.Arg222Cys)	TRPC5 (R222C)	Single nucleotide variant (missense variant)	TRPC5-related condition	GUncertain significance
Select item 2634559	NM_012471.3(TRPC5):c.19A>C (p.Lys7Gln)	TRPC5 (K7Q)	Single nucleotide variant (missense variant)	TRPC5-related condition	GUncertain significance
Select item 2629352	NM_012471.3(TRPC5):c.2740C>G (p.Gln914Glu)	TRPC5 (Q914E)	Single nucleotide variant (missense variant)	TRPC5-related condition	GUncertain significance
Select item 2613492	NM_012471.3(TRPC5):c.2619G>T (p.Gln873His)	TRPC5 (Q873H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590945	NM_012471.3(TRPC5):c.2072G>A (p.Arg691Gln)	TRPC5 (R691Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544349	NM_012471.3(TRPC5):c.50G>T (p.Arg17Leu)	TRPC5 (R17L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529988	NM_012471.3(TRPC5):c.2785G>A (p.Ala929Thr)	TRPC5 (A929T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527636	NM_012471.3(TRPC5):c.386C>A (p.Thr129Asn)	TRPC5 (T129N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518112	NM_012471.3(TRPC5):c.2503C>T (p.Arg835Cys)	TRPC5 (R835C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2463933	NM_012471.3(TRPC5):c.49C>T (p.Arg17Cys)	TRPC5 (R17C)	Single nucleotide variant (missense variant)	TRPC5-related condition +1 more	GUncertain significance
Select item 2458669	NM_012471.3(TRPC5):c.2651C>T (p.Ser884Phe)	TRPC5 (S884F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404569	NM_012471.3(TRPC5):c.401C>T (p.Thr134Met)	TRPC5 (T134M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2330025	NM_012471.3(TRPC5):c.2043C>A (p.Phe681Leu)	TRPC5 (F681L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308149	NM_012471.3(TRPC5):c.2840T>C (p.Phe947Ser)	TRPC5 (F947S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291546	NM_012471.3(TRPC5):c.2081G>A (p.Arg694His)	TRPC5 (R694H)	Single nucleotide variant (missense variant)	TRPC5-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2265199	NM_012471.3(TRPC5):c.329G>A (p.Gly110Asp)	TRPC5 (G110D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248734	NM_001195578.2(TRPC5OS):c.332A>G (p.Asp111Gly)	TRPC5, TRPC5OS (D111G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2242542	NM_012471.3(TRPC5):c.697G>A (p.Val233Met)	TRPC5 (V233M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2216393	NM_012471.3(TRPC5):c.788G>A (p.Arg263Lys)	TRPC5 (R263K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212957	NM_012471.3(TRPC5):c.2080C>T (p.Arg694Cys)	TRPC5 (R694C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809431	GRCh37/hg19 Xq23(chrX:108922296-111549785)x1	ACSL4, ALG13 +10 more	Copy number loss	not provided	GPathogenic
Select item 1808673	GRCh37/hg19 Xq21.33-24(chrX:93805850-118913329)x1	ACSL4, AGTR2 +133 more	Copy number loss	not provided	GPathogenic
Select item 1808111	GRCh37/hg19 Xq23(chrX:111094273-111147722)x1	TRPC5, TRPC5OS	Copy number loss	not provided	GUncertain significance
Select item 1710513	GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3	CAPN6, CENPI +176 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 1706520	GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1	NXF5, NXT2 +414 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 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	H2AB3, H2BW1 +502 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 1526838	GRCh37/hg19 Xq22.2-23(chrX:103158718-111556067)	ACSL4, ALG13 +45 more	Copy number gain	not specified	GPathogenic
Select item 1526834	GRCh37/hg19 Xq22.1-24(chrX:101982475-116885339)	ACSL4, AGTR2 +77 more	Copy number gain	not specified	GPathogenic
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 1328107	GRCh37/hg19 Xq22.3-23(chrX:104782507-112949573)x2	ACSL4, ALG13 +39 more	Copy number gain	not provided	GLikely pathogenic
Select item 1209858	GRCh37/hg19 Xq21.32-23(chrX:91829757-113050225)x1	BEX3, BEX4 +110 more	Copy number loss	Xq21.32q23 deletion	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 992648	GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	ABCB7, ABCD1 +510 more	Copy number gain	not provided	GPathogenic
Select item 983156	GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	ABCB7, ABCD1 +514 more	Copy number gain	See cases	GPathogenic
Select item 981397	NM_012471.3(TRPC5):c.523C>T (p.Arg175Cys)	TRPC5 (R175C)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 979836	GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1	ABCD1, ACSL4 +387 more	Copy number loss	not provided	GPathogenic
Select item 979829	GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1	ACSL4, ACTRT1 +201 more	Copy number loss	not provided	GPathogenic
Select item 816368	GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1	ABCD1, ACSL4 +398 more	Copy number loss	not provided	GPathogenic
Select item 816364	GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1	ABCD1, ACSL4 +410 more	Copy number loss	not provided	GPathogenic
Select item 807806	NM_012471.3(TRPC5):c.127G>C (p.Gly43Arg)	TRPC5 (G43R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 807805	NM_012471.3(TRPC5):c.2401T>C (p.Leu801=)	TRPC5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 785707	NM_012471.3(TRPC5):c.1791C>T (p.Thr597=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related condition +1 more	GBenign
Select item 781557	NM_012471.3(TRPC5):c.39G>A (p.Pro13=)	TRPC5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 734920	NM_012471.3(TRPC5):c.384C>T (p.Pro128=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related condition +1 more	GBenign
Select item 688596	GRCh37/hg19 Xq23(chrX:111009743-111025588)x0	TRPC5	Copy number loss	not provided	GUncertain significance

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