SLC5A8[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	LOC130008616, LOC130008617 +712 more	Copy number gain	See cases	GPathogenic
Select item 148826	GRCh38/hg38 12q23.1-23.2(chr12:97394550-101410225)x3	ACTR6, ANKS1B +91 more	Copy number gain	See cases	GLikely pathogenic
Select item 2342903	NM_145913.5(SLC5A8):c.1826G>A (p.Arg609His)	SLC5A8 (R609H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768573	NM_145913.5(SLC5A8):c.1825C>T (p.Arg609Cys)	SLC5A8 (R609C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2557587	NM_145913.5(SLC5A8):c.1814G>A (p.Ser605Asn)	SLC5A8 (S605N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165284	NM_145913.5(SLC5A8):c.1793A>T (p.Asn598Ile)	SLC5A8 (N598I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295048	NM_145913.5(SLC5A8):c.1787A>T (p.Glu596Val)	SLC5A8 (E596V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165283	NM_145913.5(SLC5A8):c.1784T>G (p.Ile595Ser)	SLC5A8 (I595S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475473	NM_145913.5(SLC5A8):c.1771G>C (p.Ala591Pro)	SLC5A8 (A591P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336745	NM_145913.5(SLC5A8):c.1717C>A (p.His573Asn)	SLC5A8 (H573N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281633	NM_145913.5(SLC5A8):c.1433A>C (p.Gln478Pro)	SLC5A8 (Q478P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165282	NM_145913.5(SLC5A8):c.1276G>A (p.Gly426Ser)	SLC5A8 (G426S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165281	NM_145913.5(SLC5A8):c.1223C>T (p.Ala408Val)	SLC5A8 (A408V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611590	NM_145913.5(SLC5A8):c.1175A>G (p.Tyr392Cys)	SLC5A8 (Y392C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165280	NM_145913.5(SLC5A8):c.1111C>T (p.Pro371Ser)	SLC5A8 (P371S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609267	NM_145913.5(SLC5A8):c.1006G>A (p.Gly336Arg)	SLC5A8 (G336R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386168	NM_145913.5(SLC5A8):c.845T>C (p.Ile282Thr)	SLC5A8 (I282T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588409	NM_145913.5(SLC5A8):c.821T>G (p.Phe274Cys)	SLC5A8 (F274C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643234	NM_145913.5(SLC5A8):c.771C>T (p.Tyr257=)	SLC5A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2467289	NM_145913.5(SLC5A8):c.763A>G (p.Ser255Gly)	SLC5A8 (S255G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714181	NM_145913.5(SLC5A8):c.751T>G (p.Phe251Val)	SLC5A8 (F251V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2234706	NM_145913.5(SLC5A8):c.749C>A (p.Thr250Asn)	SLC5A8 (T250N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519292	NM_145913.5(SLC5A8):c.746G>A (p.Gly249Glu)	SLC5A8 (G249E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392859	NM_145913.5(SLC5A8):c.710T>C (p.Leu237Ser)	SLC5A8 (L237S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274062	NM_145913.5(SLC5A8):c.665A>G (p.Tyr222Cys)	SLC5A8 (Y222C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165289	NM_145913.5(SLC5A8):c.632A>T (p.Gln211Leu)	SLC5A8 (Q211L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286085	NM_145913.5(SLC5A8):c.533C>T (p.Thr178Ile)	SLC5A8 (T178I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511594	NM_145913.5(SLC5A8):c.491G>T (p.Gly164Val)	SLC5A8 (G164V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 147867	GRCh38/hg38 12q23.2(chr12:101203029-101486159)x3	ARL1, LOC126861611 +5 more	Copy number gain	See cases	GBenign
Select item 3165288	NM_145913.5(SLC5A8):c.403T>G (p.Phe135Val)	SLC5A8 (F135V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165287	NM_145913.5(SLC5A8):c.383G>A (p.Arg128His)	SLC5A8 (R128H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719503	NM_145913.5(SLC5A8):c.351+7G>C	SLC5A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3165286	NM_145913.5(SLC5A8):c.314C>T (p.Pro105Leu)	SLC5A8 (P105L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485678	NM_145913.5(SLC5A8):c.112G>T (p.Gly38Cys)	SLC5A8 (G38C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774900	NM_145913.5(SLC5A8):c.84C>T (p.Ile28=)	SLC5A8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773681	NM_145913.5(SLC5A8):c.30C>A (p.Phe10Leu)	SLC5A8 (F10L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3165285	NM_145913.5(SLC5A8):c.20T>C (p.Ile7Thr)	SLC5A8 (I7T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808272	GRCh37/hg19 12q23.1-23.2(chr12:101272963-101745632)x3	ANO4, SLC5A8 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1527728	GRCh37/hg19 12q23.1-23.3(chr12:100580198-105804075)	ACTR6, ALDH1L2 +39 more	Copy number gain	not specified	GUncertain significance
Select item 1527727	GRCh37/hg19 12q23.1-23.2(chr12:100564593-103021075)	ACTR6, ANO4 +19 more	Copy number loss	not specified	GUncertain significance
Select item 815549	GRCh37/hg19 12q23.1-23.2(chr12:101549198-101624899)x1	SLC5A8	Copy number loss	not provided	GUncertain significance
Select item 815548	GRCh37/hg19 12q23.1-23.2(chr12:101273182-101745632)x3	SLC5A8, UTP20 +1 more	Copy number gain	not provided	GUncertain significance
Select item 686626	GRCh37/hg19 12q23.1-23.2(chr12:101447925-102593349)x3	ANO4, ARL1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 443406	GRCh37/hg19 12q23.1-23.2(chr12:100667424-101651880)x3	ANO4, GAS2L3 +4 more	Copy number gain	See cases	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 48