"Ambry Genetics"[submitter] AND "SLC22A31"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2211578	NM_001384763.1(SLC22A31):c.1318G>A (p.Gly440Ser)	SLC22A31 (G422S +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2227510	NM_001384763.1(SLC22A31):c.1234C>T (p.Arg412Cys)	SLC22A31 (R210C +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2595510	NM_001384763.1(SLC22A31):c.1231G>A (p.Asp411Asn)	SLC22A31 (D209N +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2384708	NM_001384763.1(SLC22A31):c.1196G>A (p.Arg399Gln)	SLC22A31 (E239K +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2402450	NM_001384763.1(SLC22A31):c.1189G>C (p.Glu397Gln)	SLC22A31 (E289Q +4 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2382783	NM_001384763.1(SLC22A31):c.1154C>G (p.Ala385Gly)	SLC22A31 (C337W +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2230143	NM_001384763.1(SLC22A31):c.1112G>A (p.Arg371Gln)	SLC22A31 (R304Q +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2213593	NM_001384763.1(SLC22A31):c.1025C>A (p.Thr342Lys)	SLC22A31 (H294Q +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511217	NM_001384763.1(SLC22A31):c.877A>G (p.Met293Val)	SLC22A31 (M226V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390090	NM_001384763.1(SLC22A31):c.833C>T (p.Thr278Met)	SLC22A31 (T170M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617050	NM_001384763.1(SLC22A31):c.740G>A (p.Arg247His)	SLC22A31 (R139H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348024	NM_001384763.1(SLC22A31):c.689T>C (p.Leu230Pro)	SLC22A31 (L163P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302709	NM_001384763.1(SLC22A31):c.649C>A (p.Leu217Met)	SLC22A31 (L150M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234933	NM_001384763.1(SLC22A31):c.635G>A (p.Arg212Gln)	SLC22A31 (R104Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2617025	NM_001384763.1(SLC22A31):c.570T>A (p.Ser190Arg)	SLC22A31 (S190R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2349763	NM_001384763.1(SLC22A31):c.569G>T (p.Ser190Ile)	SLC22A31 (S190I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2375328	NM_001384763.1(SLC22A31):c.533G>A (p.Arg178His)	SLC22A31 (R178H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2463489	NM_001384763.1(SLC22A31):c.515C>G (p.Ala172Gly)	SLC22A31 (A154G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2592814	NM_001384763.1(SLC22A31):c.456C>A (p.Phe152Leu)	SLC22A31 (F152L +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2466746	NM_001384763.1(SLC22A31):c.380C>T (p.Ala127Val)	SLC22A31 (A127V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2272025	NM_001384763.1(SLC22A31):c.343T>C (p.Ser115Pro)	SLC22A31 (S7P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2279278	NM_001384763.1(SLC22A31):c.335G>C (p.Gly112Ala)	SLC22A31 (G94A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 22