"Ambry Genetics"[submitter] AND "SLC22A17"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2520023	NM_016609.7(SLC22A17):c.1828C>G (p.Leu610Val)	SLC22A17 (L281V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2386511	NM_016609.7(SLC22A17):c.1811G>A (p.Cys604Tyr)	SLC22A17 (C604Y +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2327597	NM_016609.7(SLC22A17):c.1771C>T (p.Arg591Cys)	SLC22A17 (R262C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2611589	NM_016609.7(SLC22A17):c.1744A>G (p.Ser582Gly)	SLC22A17 (S582G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2361052	NM_016609.7(SLC22A17):c.1672C>A (p.Arg558Ser)	SLC22A17 (R558S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484228	NM_016609.7(SLC22A17):c.1576C>T (p.Leu526Phe)	SLC22A17 (L544F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2594736	NM_016609.7(SLC22A17):c.1511C>T (p.Ala504Val)	SLC22A17 (A175V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2489291	NM_016609.7(SLC22A17):c.1510G>A (p.Ala504Thr)	SLC22A17 (A175T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2320512	NM_016609.7(SLC22A17):c.1495+53A>T	SLC22A17 (R516S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484347	NM_016609.7(SLC22A17):c.1454T>C (p.Leu485Pro)	SLC22A17 (L485P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2256671	NM_016609.7(SLC22A17):c.1393T>A (p.Phe465Ile)	SLC22A17 (F136I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2621994	NM_016609.7(SLC22A17):c.1298G>A (p.Arg433His)	SLC22A17 (R104H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2457474	NM_016609.7(SLC22A17):c.1259T>C (p.Leu420Pro)	SLC22A17 (L420P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369077	NM_016609.7(SLC22A17):c.1252A>C (p.Asn418His)	SLC22A17 (N89H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250647	NM_016609.7(SLC22A17):c.1114G>A (p.Glu372Lys)	SLC22A17 (E372K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2224002	NM_016609.7(SLC22A17):c.1072C>T (p.Arg358Trp)	SLC22A17 (R358W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2404120	NM_016609.7(SLC22A17):c.962C>G (p.Ser321Cys)	SLC22A17 (S321C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2463649	NM_016609.7(SLC22A17):c.916G>A (p.Val306Met)	SLC22A17 (V306M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2463677	NM_016609.7(SLC22A17):c.835G>A (p.Val279Ile)	SLC22A17 (V279I)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2548729	NM_016609.7(SLC22A17):c.799G>A (p.Ala267Thr)	SLC22A17 (A267T)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2408319	NM_016609.7(SLC22A17):c.718G>A (p.Gly240Arg)	SLC22A17 (G240R)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2462410	NM_016609.7(SLC22A17):c.616G>A (p.Asp206Asn)	SLC22A17 (D206N)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2607561	NM_016609.7(SLC22A17):c.572C>T (p.Pro191Leu)	SLC22A17 (P191L)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2514485	NM_016609.7(SLC22A17):c.415G>A (p.Glu139Lys)	SLC22A17 (E139K)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2591451	NM_016609.7(SLC22A17):c.397C>T (p.Pro133Ser)	SLC22A17 (P133S)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2476297	NM_016609.7(SLC22A17):c.394C>T (p.Pro132Ser)	SLC22A17 (P132S)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance

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Items: 26