SLC6A13[gene] and "single gene"[properties] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2594229	NM_016615.5(SLC6A13):c.1744C>A (p.Pro582Thr)	SLC6A13 (P490T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459199	NM_016615.5(SLC6A13):c.1729C>T (p.Arg577Trp)	SLC6A13 (R577W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404238	NM_016615.5(SLC6A13):c.1693C>T (p.Arg565Cys)	SLC6A13 (R473C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731798	NM_016615.5(SLC6A13):c.1686+7C>T	SLC6A13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2544508	NM_016615.5(SLC6A13):c.1671G>T (p.Lys557Asn)	SLC6A13 (K465N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165376	NM_016615.5(SLC6A13):c.1615C>G (p.Leu539Val)	SLC6A13 (L447V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460150	NM_016615.5(SLC6A13):c.1580C>T (p.Pro527Leu)	SLC6A13 (P435L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327875	NM_016615.5(SLC6A13):c.1481A>C (p.Tyr494Ser)	SLC6A13 (Y494S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 548494	NM_016615.5(SLC6A13):c.1424G>A (p.Arg475His)	SLC6A13 (R475H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2359658	NM_016615.5(SLC6A13):c.1409T>C (p.Val470Ala)	SLC6A13 (V378A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592273	NM_016615.5(SLC6A13):c.1387G>A (p.Glu463Lys)	SLC6A13 (E371K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165375	NM_016615.5(SLC6A13):c.1386C>A (p.Phe462Leu)	SLC6A13 (F370L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720606	NM_016615.5(SLC6A13):c.1374C>T (p.Phe458=)	SLC6A13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3165374	NM_016615.5(SLC6A13):c.1315G>A (p.Gly439Arg)	SLC6A13 (G347R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543339	NM_016615.5(SLC6A13):c.1285C>A (p.Leu429Ile)	SLC6A13 (L429I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165373	NM_016615.5(SLC6A13):c.1268T>C (p.Val423Ala)	SLC6A13 (V331A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787549	NM_016615.5(SLC6A13):c.1244G>A (p.Arg415Gln)	SLC6A13 (R323Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 781057	NM_016615.5(SLC6A13):c.1224C>T (p.His408=)	SLC6A13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 787550	NM_016615.5(SLC6A13):c.1221T>C (p.Pro407=)	SLC6A13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3165372	NM_016615.5(SLC6A13):c.1180T>C (p.Cys394Arg)	SLC6A13 (C302R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509857	NM_016615.5(SLC6A13):c.1157T>C (p.Leu386Pro)	SLC6A13 (L294P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642561	NM_016615.5(SLC6A13):c.1149C>T (p.Val383=)	SLC6A13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2548152	NM_016615.5(SLC6A13):c.1142T>G (p.Phe381Cys)	SLC6A13 (F381C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347442	NM_016615.5(SLC6A13):c.1090C>T (p.Arg364Trp)	SLC6A13 (R364W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731113	NM_016615.5(SLC6A13):c.1038C>G (p.Pro346=)	SLC6A13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3165380	NM_016615.5(SLC6A13):c.967G>A (p.Gly323Ser)	SLC6A13 (G231S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165379	NM_016615.5(SLC6A13):c.940T>C (p.Cys314Arg)	SLC6A13 (C314R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397253	NM_016615.5(SLC6A13):c.929G>A (p.Cys310Tyr)	SLC6A13 (C218Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2690033	NM_016615.5(SLC6A13):c.871G>A (p.Ala291Thr)	SLC6A13 (A199T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2300738	NM_016615.5(SLC6A13):c.862T>C (p.Phe288Leu)	SLC6A13 (F196L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496050	NM_016615.5(SLC6A13):c.859T>C (p.Phe287Leu)	SLC6A13 (F195L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 547971	NM_016615.5(SLC6A13):c.829C>G (p.Gln277Glu)	SLC6A13 (Q277E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3165378	NM_016615.5(SLC6A13):c.812C>T (p.Thr271Met)	SLC6A13 (T179M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226615	NM_016615.5(SLC6A13):c.746T>C (p.Leu249Ser)	SLC6A13 (L157S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366765	NM_016615.5(SLC6A13):c.725A>G (p.Tyr242Cys)	SLC6A13 (Y242C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211196	NM_016615.5(SLC6A13):c.614G>A (p.Arg205His)	SLC6A13 (R205H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065553	NM_016615.5(SLC6A13):c.563+1G>A	SLC6A13	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2510440	NM_016615.5(SLC6A13):c.547G>C (p.Val183Leu)	SLC6A13 (V183L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404896	NM_016615.5(SLC6A13):c.533A>G (p.Asn178Ser)	SLC6A13 (N178S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165377	NM_016615.5(SLC6A13):c.392T>C (p.Ile131Thr)	SLC6A13 (I131T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298144	NM_016615.5(SLC6A13):c.364G>A (p.Val122Ile)	SLC6A13 (V122I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311203	NM_016615.5(SLC6A13):c.341T>C (p.Ile114Thr)	SLC6A13 (I114T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471617	NM_016615.5(SLC6A13):c.340A>G (p.Ile114Val)	SLC6A13 (I114V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619268	NM_016615.5(SLC6A13):c.253G>A (p.Val85Ile)	SLC6A13 (V85I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212750	NM_016615.5(SLC6A13):c.226G>A (p.Val76Ile)	SLC6A13 (V76I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign

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Items: 45