ClinVar for Gene (Select 60482) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3364119	NM_021815.5(SLC5A7):c.1423C>A (p.Gln475Lys)	SLC5A7 (Q228K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360408	NM_021815.5(SLC5A7):c.1354C>T (p.Pro452Ser)	SLC5A7 (P205S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341921	NM_021815.5(SLC5A7):c.681G>A (p.Pro227=)	SLC5A7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3340234	NM_021815.5(SLC5A7):c.314C>G (p.Pro105Arg)	SLC5A7 (P105R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3257604	NM_021815.5(SLC5A7):c.1590T>C (p.Ile530=)	SLC5A7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3247229	NC_000002.11:g.(?_108604612)_(108614462_?)dup	SLC5A7	Duplication	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 3220933	NM_021815.5(SLC5A7):c.886G>A (p.Ala296Thr)	SLC5A7 (A191T +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 7A	GUncertain significance
Select item 3220920	NM_021815.5(SLC5A7):c.1240T>A (p.Tyr414Asn)	SLC5A7 (Y167N +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 7A	GUncertain significance
Select item 3165279	NM_021815.5(SLC5A7):c.1560A>T (p.Arg520Ser)	SLC5A7 (R520S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165278	NM_021815.5(SLC5A7):c.127A>G (p.Ile43Val)	SLC5A7 (I43V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3062653	GRCh37/hg19 2q12.2-12.3(chr2:107468050-109530903)x1	CCDC138, EDAR +9 more	Copy number loss	not specified	GUncertain significance
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 3062558	GRCh37/hg19 2q12.2-13(chr2:107032426-113111856)x1	ACOXL, ANAPC1 +27 more	Copy number loss	not specified	GPathogenic
Select item 3062469	GRCh37/hg19 2q12.3-13(chr2:108526025-110504319)x3	CCDC138, EDAR +9 more	Copy number gain	not specified	GUncertain significance
Select item 2953104	NM_021815.5(SLC5A7):c.1500T>A (p.Tyr500Ter)	SLC5A7 (Y253* +2 more)	Single nucleotide variant (nonsense)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 2952770	NM_021815.5(SLC5A7):c.1362G>T (p.Leu454=)	SLC5A7	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GLikely benign
Select item 2952576	NM_021815.5(SLC5A7):c.1569A>G (p.Glu523=)	SLC5A7	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GLikely benign
Select item 2952519	NM_021815.5(SLC5A7):c.324A>C (p.Ser108=)	SLC5A7	Single nucleotide variant (synonymous variant +1 more)	Neuronopathy, distal hereditary motor, type 7A +1 more	GLikely benign
Select item 2951883	NM_021815.5(SLC5A7):c.797C>T (p.Ser266Leu)	SLC5A7 (S19L +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 2950719	NM_021815.5(SLC5A7):c.1676A>G (p.Asn559Ser)	SLC5A7 (N312S +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 2950557	NM_021815.5(SLC5A7):c.630T>C (p.Pro210=)	SLC5A7	Single nucleotide variant (synonymous variant +1 more)	Neuronopathy, distal hereditary motor, type 7A +1 more	GLikely benign
Select item 2950400	NM_021815.5(SLC5A7):c.1462T>C (p.Phe488Leu)	SLC5A7 (F383L +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 2949793	NM_021815.5(SLC5A7):c.1399C>A (p.Pro467Thr)	SLC5A7 (P220T +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 2949016	NM_021815.5(SLC5A7):c.919C>T (p.Leu307Phe)	SLC5A7 (L307F +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 20 +1 more	GUncertain significance
Select item 2948642	NM_021815.5(SLC5A7):c.1476_1481dup (p.Ile494_Ser495insCysIle)	SLC5A7	Duplication (inframe_insertion)	Congenital myasthenic syndrome 20 +1 more	GUncertain significance
Select item 2948440	NM_021815.5(SLC5A7):c.543C>T (p.Leu181=)	SLC5A7	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 20 +1 more	GLikely benign
Select item 2948424	NM_021815.5(SLC5A7):c.36C>T (p.Ile12=)	SLC5A7	Single nucleotide variant (synonymous variant +2 more)	Congenital myasthenic syndrome 20 +1 more	GLikely benign
Select item 2947970	NM_021815.5(SLC5A7):c.1220A>G (p.Tyr407Cys)	SLC5A7 (Y407C +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 20 +1 more	GUncertain significance
Select item 2947656	NM_021815.5(SLC5A7):c.772T>C (p.Phe258Leu)	SLC5A7 (F11L +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 2947650	NM_021815.5(SLC5A7):c.1526C>G (p.Pro509Arg)	SLC5A7 (P262R +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 2945205	NM_021815.5(SLC5A7):c.742-17T>C	SLC5A7	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GLikely benign
Select item 2944774	NM_021815.5(SLC5A7):c.1637A>G (p.Lys546Arg)	SLC5A7 (K441R +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 2943080	NM_021815.5(SLC5A7):c.175A>T (p.Thr59Ser)	SLC5A7 (T59S)	Single nucleotide variant (missense variant +2 more)	Congenital myasthenic syndrome 20 +1 more	GUncertain significance
Select item 2940915	NM_021815.5(SLC5A7):c.1581T>A (p.Asp527Glu)	SLC5A7 (D280E +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 2940662	NM_021815.5(SLC5A7):c.178+13G>A	SLC5A7	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GLikely benign
Select item 2940411	NM_021815.5(SLC5A7):c.1362G>C (p.Leu454=)	SLC5A7	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GLikely benign
Select item 2940167	NM_021815.5(SLC5A7):c.297C>T (p.Gly99=)	SLC5A7	Single nucleotide variant (synonymous variant +1 more)	Neuronopathy, distal hereditary motor, type 7A +1 more	GLikely benign
Select item 2940000	NM_021815.5(SLC5A7):c.1425G>T (p.Gln475His)	SLC5A7 (Q370H +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 2939874	NM_021815.5(SLC5A7):c.1114-16_1114-15del	SLC5A7	Microsatellite (intron variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GLikely benign
Select item 2939840	NM_021815.5(SLC5A7):c.1576A>G (p.Met526Val)	SLC5A7 (M421V +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 2938625	NM_021815.5(SLC5A7):c.95G>A (p.Ser32Asn)	SLC5A7 (S32N)	Single nucleotide variant (missense variant +2 more)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 2937944	NM_021815.5(SLC5A7):c.1326C>T (p.Gly442=)	SLC5A7	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GLikely benign
Select item 2937738	NM_021815.5(SLC5A7):c.1023T>G (p.Ser341=)	SLC5A7	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GLikely benign
Select item 2936806	NM_021815.5(SLC5A7):c.840G>T (p.Gly280=)	SLC5A7	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GLikely benign
Select item 2936536	NM_021815.5(SLC5A7):c.1543G>C (p.Asp515His)	SLC5A7 (D268H +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 2936439	NM_021815.5(SLC5A7):c.598-12T>C	SLC5A7	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 2935739	NM_021815.5(SLC5A7):c.1182C>T (p.Ala394=)	SLC5A7	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GLikely benign
Select item 2934619	NM_021815.5(SLC5A7):c.402A>C (p.Ala134=)	SLC5A7	Single nucleotide variant (synonymous variant +1 more)	Neuronopathy, distal hereditary motor, type 7A +1 more	GLikely benign
Select item 2933837	NM_021815.5(SLC5A7):c.1132G>T (p.Val378Phe)	SLC5A7 (V273F +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 2933639	NM_021815.5(SLC5A7):c.1498T>C (p.Tyr500His)	SLC5A7 (Y395H +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 2933064	NM_021815.5(SLC5A7):c.137G>T (p.Gly46Val)	SLC5A7 (G46V)	Single nucleotide variant (missense variant +2 more)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 2933019	NM_021815.5(SLC5A7):c.862G>C (p.Ala288Pro)	SLC5A7 (A183P +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 2932936	NM_021815.5(SLC5A7):c.21A>G (p.Gly7=)	SLC5A7	Single nucleotide variant (synonymous variant +2 more)	Neuronopathy, distal hereditary motor, type 7A +1 more	GLikely benign
Select item 2932580	NM_021815.5(SLC5A7):c.603C>G (p.Ile201Met)	SLC5A7 (I96M +1 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 2932410	NM_021815.5(SLC5A7):c.888A>C (p.Ala296=)	SLC5A7	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GLikely benign
Select item 2931883	NM_021815.5(SLC5A7):c.39G>A (p.Val13=)	SLC5A7	Single nucleotide variant (synonymous variant +2 more)	Neuronopathy, distal hereditary motor, type 7A +1 more	GLikely benign
Select item 2931608	NM_021815.5(SLC5A7):c.964A>G (p.Ile322Val)	SLC5A7 (I217V +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 2931239	NM_021815.5(SLC5A7):c.1566T>G (p.Ser522Arg)	SLC5A7 (S417R +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 2931018	NM_021815.5(SLC5A7):c.912A>C (p.Ala304=)	SLC5A7	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GLikely benign
Select item 2930705	NM_021815.5(SLC5A7):c.1412G>A (p.Gly471Asp)	SLC5A7 (G366D +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 2930167	NM_021815.5(SLC5A7):c.1703C>G (p.Ser568Cys)	SLC5A7 (S321C +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 2929741	NM_021815.5(SLC5A7):c.145A>T (p.Ile49Phe)	SLC5A7 (I49F)	Single nucleotide variant (missense variant +2 more)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 2928740	NM_021815.5(SLC5A7):c.117C>A (p.Ser39Arg)	SLC5A7 (S39R)	Single nucleotide variant (missense variant +2 more)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 2927342	NM_021815.5(SLC5A7):c.1286G>A (p.Gly429Glu)	SLC5A7 (G429E +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 2926619	NM_021815.5(SLC5A7):c.1113+14C>A	SLC5A7	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GLikely benign
Select item 2926328	NM_021815.5(SLC5A7):c.742-6G>T	SLC5A7	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GLikely benign
Select item 2925792	NM_021815.5(SLC5A7):c.896-17T>C	SLC5A7	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GLikely benign
Select item 2925235	NM_021815.5(SLC5A7):c.463G>C (p.Val155Leu)	SLC5A7 (V155L +1 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 2925074	NM_021815.5(SLC5A7):c.113G>T (p.Arg38Leu)	SLC5A7 (R38L)	Single nucleotide variant (missense variant +2 more)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 2924053	NM_021815.5(SLC5A7):c.768A>C (p.Ala256=)	SLC5A7	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GLikely benign
Select item 2923125	NM_021815.5(SLC5A7):c.1114-13C>A	SLC5A7	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GLikely benign
Select item 2922614	NM_021815.5(SLC5A7):c.895+12G>A	SLC5A7	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GLikely benign
Select item 2922336	NM_021815.5(SLC5A7):c.292+5G>C	SLC5A7	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 2922125	NM_021815.5(SLC5A7):c.502T>C (p.Ser168Pro)	SLC5A7 (S63P +1 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 2921925	NM_021815.5(SLC5A7):c.148G>T (p.Gly50Cys)	SLC5A7 (G50C)	Single nucleotide variant (missense variant +2 more)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 2921791	NM_021815.5(SLC5A7):c.441T>C (p.Ser147=)	SLC5A7	Single nucleotide variant (synonymous variant +1 more)	Neuronopathy, distal hereditary motor, type 7A +1 more	GLikely benign
Select item 2921402	NM_021815.5(SLC5A7):c.472G>C (p.Asp158His)	SLC5A7 (D53H +1 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 2691886	NM_021815.5(SLC5A7):c.1503_1506del (p.Phe502fs)	SLC5A7 (F255fs +2 more)	Deletion (frameshift variant)	Neuronopathy, distal hereditary motor, type 7A	GLikely pathogenic
Select item 2690030	NM_021815.5(SLC5A7):c.1298A>G (p.Tyr433Cys)	SLC5A7 (Y186C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690029	NM_021815.5(SLC5A7):c.401C>T (p.Ala134Val)	SLC5A7 (A134V +1 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, type 7A +2 more	GUncertain significance
Select item 2687767	NM_021815.5(SLC5A7):c.1349G>A (p.Gly450Glu)	SLC5A7 (G203E +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 20	GLikely pathogenic
Select item 2687766	NM_021815.5(SLC5A7):c.1207T>C (p.Tyr403His)	SLC5A7 (Y156H +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 20	GLikely pathogenic
Select item 2687476	NM_021815.5(SLC5A7):c.178+2T>C	SLC5A7	Single nucleotide variant (splice donor variant +1 more)	Congenital myasthenic syndrome 20	GLikely pathogenic
Select item 2687475	NM_021815.5(SLC5A7):c.1448C>T (p.Ala483Val)	SLC5A7 (A236V +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 20	GUncertain significance
Select item 2685861	GRCh37/hg19 2q12.3-13(chr2:108534031-111365996)x3	CCDC138, EDAR +15 more	Copy number gain	not provided	GUncertain significance
Select item 2684642	GRCh37/hg19 2q12.2-13(chr2:107029681-113127751)x1	ACOXL, ANAPC1 +28 more	Copy number loss	not provided	GPathogenic
Select item 2682741	NM_021815.5(SLC5A7):c.1708C>T (p.Pro570Ser)	SLC5A7 (P323S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2651243	NM_021815.5(SLC5A7):c.1448_1452del (p.Ala483fs)	SLC5A7 (A236fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2651242	NM_021815.5(SLC5A7):c.660G>A (p.Val220=)	SLC5A7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2651241	NM_021815.5(SLC5A7):c.402A>T (p.Ala134=)	SLC5A7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2637703	NM_021815.5(SLC5A7):c.1170A>G (p.Ala390=)	SLC5A7	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 2633162	NM_021815.5(SLC5A7):c.1143G>A (p.Met381Ile)	SLC5A7 (M134I +2 more)	Single nucleotide variant (missense variant)	SLC5A7-related disorder	GUncertain significance
Select item 2621941	NM_021815.5(SLC5A7):c.601A>G (p.Ile201Val)	SLC5A7 (I201V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2573603	NM_021815.5(SLC5A7):c.1726G>T (p.Glu576Ter)	SLC5A7 (E329* +2 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 2542724	NM_021815.5(SLC5A7):c.1480A>G (p.Ile494Val)	SLC5A7 (I389V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2500960	NM_021815.5(SLC5A7):c.742-2A>G	SLC5A7	Single nucleotide variant (splice acceptor variant)	Neuronopathy, distal hereditary motor, type 7A	GLikely pathogenic
Select item 2436064	NM_021815.5(SLC5A7):c.25A>G (p.Ile9Val)	SLC5A7 (I9V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2426740	NC_000002.11:g.(?_108604612)_(109579739_?)del	CCDC138, EDAR +7 more	Deletion	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 2426682	NC_000002.11:g.(?_108604612)_(108609603_?)del	SLC5A7	Deletion	Congenital myasthenic syndrome 20 +1 more	GUncertain significance
Select item 2426681	NC_000002.11:g.(?_108604612)_(108604809_?)del	SLC5A7	Deletion	Congenital myasthenic syndrome 20 +1 more	GUncertain significance

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