"Ambry Genetics"[submitter] AND "SLC5A6"[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2357705	NM_021095.4(SLC5A6):c.1887C>G (p.Ile629Met)	SLC5A6 (I629M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2284798	NM_021095.4(SLC5A6):c.1880C>A (p.Thr627Asn)	SLC5A6 (T627N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165272	NM_021095.4(SLC5A6):c.1738C>T (p.Arg580Trp)	SLC5A6 (R580W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165271	NM_021095.4(SLC5A6):c.1720C>T (p.Pro574Ser)	SLC5A6 (P574S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2246663	NM_021095.4(SLC5A6):c.1674C>A (p.Asn558Lys)	SLC5A6 (N558K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165270	NM_021095.4(SLC5A6):c.1643T>C (p.Leu548Pro)	SLC5A6 (L548P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165269	NM_021095.4(SLC5A6):c.1639C>G (p.Leu547Val)	SLC5A6 (L547V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2533500	NM_021095.4(SLC5A6):c.1618G>T (p.Val540Leu)	SLC5A6 (V540L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3320058	NM_021095.4(SLC5A6):c.1561C>T (p.Arg521Trp)	SLC5A6 (R521W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3165268	NM_021095.4(SLC5A6):c.1541C>T (p.Ser514Phe)	SLC5A6 (S514F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165267	NM_021095.4(SLC5A6):c.1501G>A (p.Val501Ile)	SLC5A6 (V501I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2390909	NM_021095.4(SLC5A6):c.1460C>T (p.Pro487Leu)	SLC5A6 (P487L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3165266	NM_021095.4(SLC5A6):c.1439G>A (p.Gly480Asp)	SLC5A6 (G480D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2591910	NM_021095.4(SLC5A6):c.1432A>C (p.Ser478Arg)	SLC5A6 (S478R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2225835	NM_021095.4(SLC5A6):c.1426G>A (p.Val476Met)	SLC5A6 (V476M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165265	NM_021095.4(SLC5A6):c.1414A>G (p.Ile472Val)	SLC5A6 (I472V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165264	NM_021095.4(SLC5A6):c.1414A>C (p.Ile472Leu)	SLC5A6 (I472L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165263	NM_021095.4(SLC5A6):c.1393G>T (p.Val465Phe)	SLC5A6 (V465F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2619381	NM_021095.4(SLC5A6):c.1372G>A (p.Val458Met)	SLC5A6 (V458M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2248192	NM_021095.4(SLC5A6):c.1244A>G (p.Tyr415Cys)	SLC5A6 (Y415C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3320059	NM_021095.4(SLC5A6):c.1084G>A (p.Gly362Ser)	SLC5A6 (G362S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2386501	NM_021095.4(SLC5A6):c.1070C>T (p.Ala357Val)	SLC5A6 (A357V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2222351	NM_021095.4(SLC5A6):c.959A>G (p.Gln320Arg)	SLC5A6 (Q320R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2473466	NM_021095.4(SLC5A6):c.950C>T (p.Ala317Val)	SLC5A6 (A317V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2548818	NM_021095.4(SLC5A6):c.949G>A (p.Ala317Thr)	SLC5A6 (A317T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3165277	NM_021095.4(SLC5A6):c.925T>C (p.Cys309Arg)	SLC5A6 (C309R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3320060	NM_021095.4(SLC5A6):c.919G>A (p.Val307Met)	SLC5A6 (V307M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2298082	NM_021095.4(SLC5A6):c.883T>C (p.Tyr295His)	SLC5A6 (Y295H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2206683	NM_021095.4(SLC5A6):c.853C>T (p.Arg285Cys)	SLC5A6 (R285C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165276	NM_021095.4(SLC5A6):c.740A>G (p.Asp247Gly)	SLC5A6 (D247G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261556	NM_021095.4(SLC5A6):c.718C>T (p.Arg240Cys)	SLC5A6 (R240C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2297041	NM_021095.4(SLC5A6):c.700G>A (p.Val234Met)	SLC5A6 (V234M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165275	NM_021095.4(SLC5A6):c.653T>C (p.Ile218Thr)	SLC5A6 (I218T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301426	NM_021095.4(SLC5A6):c.575C>T (p.Ala192Val)	SLC5A6 (A192V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2220066	NM_021095.4(SLC5A6):c.565G>A (p.Val189Ile)	SLC5A6 (V189I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3165274	NM_021095.4(SLC5A6):c.506A>G (p.Asn169Ser)	SLC5A6 (N169S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2543868	NM_021095.4(SLC5A6):c.428T>C (p.Val143Ala)	SLC5A6 (V143A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2219981	NM_021095.4(SLC5A6):c.373C>G (p.His125Asp)	SLC5A6 (H125D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2596600	NM_021095.4(SLC5A6):c.368G>A (p.Arg123His)	SLC5A6 (R123H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2326676	NM_021095.4(SLC5A6):c.358G>A (p.Val120Ile)	SLC5A6 (V120I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2382027	NM_021095.4(SLC5A6):c.191G>A (p.Arg64His)	SLC5A6 (R64H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1317298	NM_021095.4(SLC5A6):c.182T>A (p.Met61Lys)	SLC5A6 (M61K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2400536	NM_021095.4(SLC5A6):c.158G>A (p.Arg53Gln)	SLC5A6 (R53Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165262	NM_021095.4(SLC5A6):c.122C>G (p.Ala41Gly)	SLC5A6 (A41G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3320062	NM_021095.4(SLC5A6):c.74C>T (p.Ser25Phe)	SLC5A6 (S25F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2464402	NM_021095.4(SLC5A6):c.55G>A (p.Val19Met)	SLC5A6 (V19M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3332398	NM_001170795.4(ATRAID):c.-161A>G	ATRAID, SLC5A6	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3132108	NM_001170795.4(ATRAID):c.-123A>C	ATRAID, LOC129933365 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2471799	NM_001170795.4(ATRAID):c.-74G>C	ATRAID, LOC129933365 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2313791	NM_001170795.4(ATRAID):c.-71G>A	ATRAID, LOC129933365 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2292864	NM_001170795.4(ATRAID):c.-44C>G	ATRAID, LOC129933365 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2379207	NM_001170795.4(ATRAID):c.-38C>T	ATRAID, LOC129933365 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2463462	NM_001170795.4(ATRAID):c.-24A>T	ATRAID, LOC129933365 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2481274	NM_001170795.4(ATRAID):c.13G>T (p.Asp5Tyr)	ATRAID, LOC129933365 +1 more (D5Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132107	NM_001170795.4(ATRAID):c.25C>T (p.Leu9Phe)	ATRAID, LOC129933365 +1 more (L9F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282359	NM_001170795.4(ATRAID):c.79A>G (p.Arg27Gly)	ATRAID, LOC129933365 +1 more (R27G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471955	NM_001170795.4(ATRAID):c.97G>A (p.Glu33Lys)	ATRAID, SLC5A6 (E33K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 57