"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "SLC16A1 - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2154033	NM_213606.4(SLC16A12):c.1542C>A (p.Ser514Arg)	SLC16A12 (S514R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1968100	NM_213606.4(SLC16A12):c.1481T>G (p.Val494Gly)	SLC16A12 (V494G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2799244	NM_213606.4(SLC16A12):c.1441A>C (p.Lys481Gln)	SLC16A12 (K481Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2107056	NM_213606.4(SLC16A12):c.1219T>C (p.Leu407=)	SLC16A12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1652604	NM_213606.4(SLC16A12):c.1217C>G (p.Ser406Cys)	SLC16A12 (S406C)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2178645	NM_213606.4(SLC16A12):c.1028+10A>G	SLC16A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2760404	NM_213606.4(SLC16A12):c.718C>T (p.His240Tyr)	SLC16A12 (H240Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2416274	NM_213606.4(SLC16A12):c.512G>A (p.Arg171Gln)	SLC16A12 (R171Q)	Single nucleotide variant (missense variant)	Juvenile cataract-microcornea-renal glucosuria syndrome +2 more	GUncertain significance
Select item 68476	NM_213606.4(SLC16A12):c.472T>C (p.Ser158Pro)	SLC16A12 (S158P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1599777	NM_213606.4(SLC16A12):c.449-6C>T	SLC16A12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1304566	NM_213606.4(SLC16A12):c.407C>T (p.Thr136Met)	SLC16A12 (T136M)	Single nucleotide variant (missense variant)	Juvenile cataract-microcornea-renal glucosuria syndrome +1 more	GUncertain significance
Select item 2716293	NM_213606.4(SLC16A12):c.201-9A>G	SLC16A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1543945	NM_213606.4(SLC16A12):c.201-16G>A	SLC16A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2060390	NM_213606.4(SLC16A12):c.200+9del	SLC16A12, SLC16A12-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 2070348	NM_213606.4(SLC16A12):c.97A>G (p.Lys33Glu)	SLC16A12, SLC16A12-AS1 (K33E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 681342	NM_213606.4(SLC16A12):c.49T>G (p.Trp17Gly)	SLC16A12, SLC16A12-AS1 (W17G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3244832	NC_000010.10:g.(?_90332640)_(91222335_?)dup	LIPM, LIPN +17 more	Duplication	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2422619	NC_000010.10:g.(?_90974585)_(91222335_?)dup	IFIT1, IFIT1B +5 more	Duplication	Wolman disease	GUncertain significance
Select item 831108	NC_000010.11:g.(?_89338661)_(89612048_?)del	IFIT1, IFIT1B +5 more	Deletion	not provided	GPathogenic