ClinVar for Gene (Select 7224) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3391958	GRCh37/hg19 Xq21.32-26.1(chrX:92712119-129831493)x1	ACSL4, ACTRT1 +191 more	Copy number loss	not provided	GPathogenic
Select item 3391957	GRCh37/hg19 Xq21.31-23(chrX:91004293-111532472)x1	ACSL4, ALG13 +108 more	Copy number loss	not provided	GPathogenic
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3358746	NM_012471.3(TRPC5):c.279C>A (p.Ser93Arg)	TRPC5 (S93R)	Single nucleotide variant (missense variant)	TRPC5-related disorder	GUncertain significance
Select item 3358682	NM_012471.3(TRPC5):c.466G>A (p.Glu156Lys)	TRPC5 (E156K)	Single nucleotide variant (missense variant)	TRPC5-related disorder	GUncertain significance
Select item 3358597	NM_012471.3(TRPC5):c.783C>T (p.Ser261=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GLikely benign
Select item 3358323	NM_012471.3(TRPC5):c.2393_2394del (p.Ser798fs)	TRPC5 (S798fs)	Microsatellite (frameshift variant)	TRPC5-related disorder	GUncertain significance
Select item 3358160	NM_012471.3(TRPC5):c.2335C>G (p.Gln779Glu)	TRPC5 (Q779E)	Single nucleotide variant (missense variant)	TRPC5-related disorder	GUncertain significance
Select item 3357987	NM_012471.3(TRPC5):c.2590A>G (p.Met864Val)	TRPC5 (M864V)	Single nucleotide variant (missense variant)	TRPC5-related disorder	GUncertain significance
Select item 3357974	NM_012471.3(TRPC5):c.2316T>C (p.Thr772=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GLikely benign
Select item 3357724	NM_012471.3(TRPC5):c.365_366delinsCT (p.Ser122Thr)	TRPC5 (S122T)	Indel (missense variant)	TRPC5-related disorder	GUncertain significance
Select item 3357688	NM_012471.3(TRPC5):c.544G>C (p.Val182Leu)	TRPC5 (V182L)	Single nucleotide variant (missense variant)	TRPC5-related disorder	GUncertain significance
Select item 3357557	NM_012471.3(TRPC5):c.2631G>T (p.Met877Ile)	TRPC5 (M877I)	Single nucleotide variant (missense variant)	TRPC5-related disorder	GUncertain significance
Select item 3357093	NM_012471.3(TRPC5):c.2627G>A (p.Cys876Tyr)	TRPC5 (C876Y)	Single nucleotide variant (missense variant)	TRPC5-related disorder	GUncertain significance
Select item 3356942	NM_012471.3(TRPC5):c.666T>C (p.Arg222=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GLikely benign
Select item 3356700	NM_012471.3(TRPC5):c.1897-5C>T	TRPC5	Single nucleotide variant (intron variant)	TRPC5-related disorder	GLikely benign
Select item 3356308	NM_012471.3(TRPC5):c.2065G>A (p.Gly689Ser)	TRPC5 (G689S)	Single nucleotide variant (missense variant)	TRPC5-related disorder	GUncertain significance
Select item 3356082	NM_012471.3(TRPC5):c.546G>T (p.Val182=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GLikely benign
Select item 3355776	NM_012471.3(TRPC5):c.868T>C (p.Leu290=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GLikely benign
Select item 3355726	NM_012471.3(TRPC5):c.330C>T (p.Gly110=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GLikely benign
Select item 3355695	NM_012471.3(TRPC5):c.2343C>T (p.Asp781=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GLikely benign
Select item 3355095	NM_012471.3(TRPC5):c.358C>T (p.Arg120Trp)	TRPC5 (R120W)	Single nucleotide variant (missense variant)	TRPC5-related disorder	GUncertain significance
Select item 3354982	NM_012471.3(TRPC5):c.1158G>A (p.Gln386=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GLikely benign
Select item 3354887	NM_012471.3(TRPC5):c.915C>T (p.Pro305=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GLikely benign
Select item 3354738	NM_012471.3(TRPC5):c.2673A>G (p.Ala891=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GLikely benign
Select item 3354717	NM_012471.3(TRPC5):c.690C>A (p.Leu230=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GLikely benign
Select item 3354653	NM_012471.3(TRPC5):c.1375A>G (p.Lys459Glu)	TRPC5 (K459E)	Single nucleotide variant (missense variant)	TRPC5-related disorder	GUncertain significance
Select item 3354359	NM_012471.3(TRPC5):c.572G>A (p.Arg191His)	TRPC5 (R191H)	Single nucleotide variant (missense variant)	TRPC5-related disorder	GUncertain significance
Select item 3353834	NM_012471.3(TRPC5):c.78G>A (p.Glu26=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GLikely benign
Select item 3353757	NM_012471.3(TRPC5):c.2787A>G (p.Ala929=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GLikely benign
Select item 3353579	NM_012471.3(TRPC5):c.273C>T (p.Asn91=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GLikely benign
Select item 3353401	NM_012471.3(TRPC5):c.1377+6T>C	TRPC5	Single nucleotide variant (intron variant)	TRPC5-related disorder	GLikely benign
Select item 3353383	NM_012471.3(TRPC5):c.1863T>A (p.Ile621=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GLikely benign
Select item 3352434	NM_012471.3(TRPC5):c.2033ACA[1] (p.Asn679del)	TRPC5 (N679del)	Microsatellite (inframe_indel +1 more)	TRPC5-related disorder	GUncertain significance
Select item 3351752	NM_012471.3(TRPC5):c.358C>A (p.Arg120=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GLikely benign
Select item 3350720	NM_012471.3(TRPC5):c.366C>T (p.Ser122=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GLikely benign
Select item 3350706	NM_012471.3(TRPC5):c.392T>C (p.Met131Thr)	TRPC5 (M131T)	Single nucleotide variant (missense variant)	TRPC5-related disorder	GUncertain significance
Select item 3350523	NM_012471.3(TRPC5):c.1897-3T>C	TRPC5	Single nucleotide variant (intron variant)	TRPC5-related disorder	GLikely benign
Select item 3350160	NM_012471.3(TRPC5):c.1270G>C (p.Asp424His)	TRPC5 (D424H)	Single nucleotide variant (missense variant)	TRPC5-related disorder	GUncertain significance
Select item 3350139	NM_012471.3(TRPC5):c.1727T>A (p.Phe576Tyr)	TRPC5 (F576Y)	Single nucleotide variant (missense variant)	TRPC5-related disorder	GUncertain significance
Select item 3350135	NM_012471.3(TRPC5):c.1238-8T>C	TRPC5	Single nucleotide variant (intron variant)	TRPC5-related disorder	GLikely benign
Select item 3349823	NM_012471.3(TRPC5):c.2564A>G (p.His855Arg)	TRPC5 (H855R)	Single nucleotide variant (missense variant)	TRPC5-related disorder	GUncertain significance
Select item 3349275	NM_012471.3(TRPC5):c.1997G>A (p.Ser666Asn)	TRPC5 (S666N)	Single nucleotide variant (missense variant)	TRPC5-related disorder	GUncertain significance
Select item 3349178	NM_012471.3(TRPC5):c.48C>G (p.Asp16Glu)	TRPC5 (D16E)	Single nucleotide variant (missense variant)	TRPC5-related disorder	GUncertain significance
Select item 3349150	NM_012471.3(TRPC5):c.1425T>C (p.Thr475=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GLikely benign
Select item 3348817	NM_012471.3(TRPC5):c.2204_2205del (p.His735fs)	TRPC5 (H735fs)	Deletion (frameshift variant)	TRPC5-related disorder	GUncertain significance
Select item 3348794	NM_012471.3(TRPC5):c.1634G>C (p.Arg545Thr)	TRPC5 (R545T)	Single nucleotide variant (missense variant)	TRPC5-related disorder	GUncertain significance
Select item 3348767	NM_012471.3(TRPC5):c.393G>A (p.Met131Ile)	TRPC5 (M131I)	Single nucleotide variant (missense variant)	TRPC5-related disorder	GUncertain significance
Select item 3348624	NM_012471.3(TRPC5):c.2770A>T (p.Ser924Cys)	TRPC5 (S924C)	Single nucleotide variant (missense variant)	TRPC5-related disorder	GUncertain significance
Select item 3348359	NM_012471.3(TRPC5):c.2854G>A (p.Glu952Lys)	TRPC5 (E952K)	Single nucleotide variant (missense variant)	TRPC5-related disorder	GUncertain significance
Select item 3348275	NM_012471.3(TRPC5):c.57C>G (p.Pro19=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GLikely benign
Select item 3348068	NM_012471.3(TRPC5):c.25G>T (p.Val9Phe)	TRPC5 (V9F)	Single nucleotide variant (missense variant)	TRPC5-related disorder	GUncertain significance
Select item 3347961	NM_012471.3(TRPC5):c.709T>C (p.Phe237Leu)	TRPC5 (F237L)	Single nucleotide variant (missense variant)	TRPC5-related disorder	GUncertain significance
Select item 3347777	NM_012471.3(TRPC5):c.-10G>C	TRPC5	Single nucleotide variant (5 prime UTR variant)	TRPC5-related disorder	GLikely benign
Select item 3347660	NM_012471.3(TRPC5):c.971G>A (p.Arg324Gln)	TRPC5 (R324Q)	Single nucleotide variant (missense variant)	TRPC5-related disorder	GUncertain significance
Select item 3346025	NM_012471.3(TRPC5):c.2773T>C (p.Ser925Pro)	TRPC5 (S925P)	Single nucleotide variant (missense variant)	TRPC5-related disorder	GUncertain significance
Select item 3345426	NM_012471.3(TRPC5):c.1293C>G (p.Ile431Met)	TRPC5 (I431M)	Single nucleotide variant (missense variant)	TRPC5-related disorder	GUncertain significance
Select item 3345188	NM_012471.3(TRPC5):c.2064C>T (p.Asp688=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GLikely benign
Select item 3345059	NM_012471.3(TRPC5):c.259G>A (p.Glu87Lys)	TRPC5 (E87K)	Single nucleotide variant (missense variant)	TRPC5-related disorder	GUncertain significance
Select item 3344865	NM_012471.3(TRPC5):c.30C>T (p.Asn10=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GLikely benign
Select item 3344849	NM_012471.3(TRPC5):c.778C>T (p.Arg260Trp)	TRPC5 (R260W)	Single nucleotide variant (missense variant)	TRPC5-related disorder	GUncertain significance
Select item 3344689	NM_012471.3(TRPC5):c.1265T>C (p.Met422Thr)	TRPC5 (M422T)	Single nucleotide variant (missense variant)	TRPC5-related disorder	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 3183246	NM_012471.3(TRPC5):c.2699A>C (p.Asn900Thr)	TRPC5 (N900T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183245	NM_012471.3(TRPC5):c.2029T>C (p.Phe677Leu)	TRPC5 (F677L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 disorder	GLikely benign
Select item 3057707	NM_012471.3(TRPC5):c.1929G>A (p.Arg643=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GLikely benign
Select item 3055303	NM_012471.3(TRPC5):c.1809C>G (p.Thr603=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GBenign
Select item 3055228	NM_012471.3(TRPC5):c.804C>A (p.Ile268=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GLikely benign
Select item 3054050	NM_012471.3(TRPC5):c.186C>T (p.Asn62=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GLikely benign
Select item 3052160	NM_012471.3(TRPC5):c.189C>T (p.Ile63=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GLikely benign
Select item 3051440	NM_012471.3(TRPC5):c.54C>T (p.Ile18=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GLikely benign
Select item 3051317	NM_012471.3(TRPC5):c.2105G>A (p.Arg702His)	TRPC5 (R702H)	Single nucleotide variant (missense variant)	TRPC5-related disorder	GLikely benign
Select item 3051281	NM_012471.3(TRPC5):c.1398G>A (p.Arg466=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GLikely benign
Select item 3048226	NM_012471.3(TRPC5):c.1014G>C (p.Gly338=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GLikely benign
Select item 3046877	NM_012471.3(TRPC5):c.1309C>T (p.Leu437=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GLikely benign
Select item 3045855	NM_012471.3(TRPC5):c.1238-7del	TRPC5	Deletion (intron variant)	TRPC5-related disorder	GLikely benign
Select item 3045566	NM_012471.3(TRPC5):c.1637C>A (p.Ala546Asp)	TRPC5 (A546D)	Single nucleotide variant (missense variant)	TRPC5-related disorder	GLikely benign
Select item 3043005	NM_012471.3(TRPC5):c.39G>T (p.Pro13=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GBenign
Select item 3042876	NM_012471.3(TRPC5):c.2674G>A (p.Glu892Lys)	TRPC5 (E892K)	Single nucleotide variant (missense variant)	TRPC5-related disorder	GLikely benign
Select item 3042699	NM_012471.3(TRPC5):c.2367G>T (p.Gly789=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GLikely benign
Select item 3040298	NM_012471.3(TRPC5):c.2071C>T (p.Arg691Trp)	TRPC5 (R691W)	Single nucleotide variant (missense variant)	TRPC5-related disorder	GLikely benign
Select item 3037643	NM_012471.3(TRPC5):c.58C>T (p.Leu20=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GLikely benign
Select item 3037041	NM_012471.3(TRPC5):c.597C>T (p.Ile199=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GLikely benign
Select item 3036606	NM_012471.3(TRPC5):c.717C>T (p.Ala239=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GLikely benign
Select item 3035930	NM_012471.3(TRPC5):c.1290C>T (p.Tyr430=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GLikely benign
Select item 3032701	NM_012471.3(TRPC5):c.1071G>A (p.Gly357=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GLikely benign
Select item 3032697	NM_012471.3(TRPC5):c.2289T>C (p.Asn763=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GLikely benign
Select item 3032168	NM_012471.3(TRPC5):c.1700+7C>T	TRPC5	Single nucleotide variant (intron variant)	TRPC5-related disorder	GLikely benign
Select item 3032167	NM_012471.3(TRPC5):c.141T>G (p.Thr47=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GLikely benign
Select item 3031888	NM_012471.3(TRPC5):c.2232+9A>G	TRPC5	Single nucleotide variant (intron variant)	TRPC5-related disorder	GLikely benign
Select item 3031626	NM_012471.3(TRPC5):c.177T>C (p.Tyr59=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GLikely benign
Select item 3031036	NM_012471.3(TRPC5):c.2829A>C (p.Ser943=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GLikely benign
Select item 3030559	NM_012471.3(TRPC5):c.195C>T (p.Cys65=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GLikely benign
Select item 3030483	NM_012471.3(TRPC5):c.2520T>A (p.Pro840=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GLikely benign
Select item 3029927	NM_012471.3(TRPC5):c.1434G>A (p.Ala478=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GLikely benign
Select item 3029850	NM_012471.3(TRPC5):c.2371C>A (p.Arg791=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GLikely benign
Select item 3029426	NM_012471.3(TRPC5):c.2734G>A (p.Ala912Thr)	TRPC5 (A912T)	Single nucleotide variant (missense variant)	TRPC5-related disorder	GUncertain significance
Select item 3029251	NM_012471.3(TRPC5):c.1605G>T (p.Leu535=)	TRPC5	Single nucleotide variant (synonymous variant)	TRPC5-related disorder	GLikely benign

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