"Ambry Genetics"[submitter] AND "SLC35E2B"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3164392	NM_001290264.2(SLC35E2B):c.1144G>A (p.Ala382Thr)	SLC35E2B (A382T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164391	NM_001290264.2(SLC35E2B):c.1138A>C (p.Ser380Arg)	SLC35E2B (S380R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164390	NM_001290264.2(SLC35E2B):c.1116A>T (p.Gln372His)	LOC129929143, SLC35E2B (Q372H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533781	NM_001290264.2(SLC35E2B):c.1093C>G (p.Leu365Val)	LOC129929143, SLC35E2B (L365V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213881	NM_001290264.2(SLC35E2B):c.1063G>A (p.Val355Ile)	LOC129929143, SLC35E2B (V355I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2345174	NM_001290264.2(SLC35E2B):c.1058C>T (p.Ser353Leu)	LOC129929143, SLC35E2B (S353L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400489	NM_001290264.2(SLC35E2B):c.1056G>T (p.Leu352Phe)	LOC129929143, SLC35E2B (L352F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320110	NM_001290264.2(SLC35E2B):c.1040A>G (p.Asn347Ser)	SLC35E2B (N347S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164389	NM_001290264.2(SLC35E2B):c.1024G>A (p.Val342Ile)	SLC35E2B (V342I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3164388	NM_001290264.2(SLC35E2B):c.1003G>T (p.Ala335Ser)	SLC35E2B (A335S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164387	NM_001290264.2(SLC35E2B):c.1001A>G (p.His334Arg)	SLC35E2B (H334R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269135	NM_001290264.2(SLC35E2B):c.994G>A (p.Val332Met)	SLC35E2B (V332M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164396	NM_001290264.2(SLC35E2B):c.981C>T (p.Ser327=)	SLC35E2B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3164395	NM_001290264.2(SLC35E2B):c.866G>C (p.Ser289Thr)	SLC35E2B (S289T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164394	NM_001290264.2(SLC35E2B):c.859G>A (p.Gly287Arg)	SLC35E2B (G287R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243359	NM_001290264.2(SLC35E2B):c.701T>C (p.Met234Thr)	SLC35E2B (M234T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164393	NM_001290264.2(SLC35E2B):c.553A>G (p.Ile185Val)	SLC35E2B (I185V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464858	NM_001290264.2(SLC35E2B):c.547A>C (p.Thr183Pro)	SLC35E2B (T183P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601096	NM_001290264.2(SLC35E2B):c.392A>G (p.Gln131Arg)	SLC35E2B (Q131R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319569	NM_001290264.2(SLC35E2B):c.356G>A (p.Gly119Glu)	SLC35E2B (G119E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308849	NM_001290264.2(SLC35E2B):c.238A>G (p.Thr80Ala)	SLC35E2B (T80A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527699	NM_001290264.2(SLC35E2B):c.179A>G (p.Glu60Gly)	SLC35E2B (E60G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355078	NM_001290264.2(SLC35E2B):c.166G>A (p.Val56Ile)	SLC35E2B (V56I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2352991	NM_001290264.2(SLC35E2B):c.157G>A (p.Val53Ile)	SLC35E2B (V53I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360980	NM_001290264.2(SLC35E2B):c.142G>A (p.Gly48Ser)	SLC35E2B (G48S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2260332	NM_001290264.2(SLC35E2B):c.58A>C (p.Lys20Gln)	SLC35E2B (K20Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228283	NM_001290264.2(SLC35E2B):c.52G>A (p.Glu18Lys)	SLC35E2B (E18K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 27