Related gene-specific medical variations for Gene (Select 6505) - ClinVar - NCBI

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065478	NM_004170.6(SLC1A1):c.484-2A>G	SLC1A1	Single nucleotide variant (splice acceptor variant)	Dicarboxylic aminoaciduria	GLikely pathogenic
Select item 3063065	GRCh37/hg19 9p24.2(chr9:4339192-4523382)x1	SLC1A1	Copy number loss	not specified	GPathogenic
Select item 3063063	GRCh37/hg19 9p24.2(chr9:4386287-4561374)x1	SLC1A1	Copy number loss	not specified	GPathogenic
Select item 2238886	NM_004170.6(SLC1A1):c.13G>A (p.Ala5Thr)	LOC130001482, SLC1A1 (A5T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1340722	GRCh37/hg19 9p24.2(chr9:4400990-4522460)x1	SLC1A1	Copy number loss	not provided	GUncertain significance
Select item 1340407	GRCh37/hg19 9p24.2(chr9:4465464-4529860)x1	SLC1A1	Copy number loss	not provided	GLikely benign
Select item 980909	GRCh37/hg19 9p24.2(chr9:4465803-4529860)x1	SLC1A1	Copy number loss	not provided	GLikely benign
Select item 930648	NM_004170.6(SLC1A1):c.875+8A>G	SLC1A1	Single nucleotide variant (intron variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 687614	GRCh37/hg19 9p24.2(chr9:4438880-4528118)x1	SLC1A1	Copy number loss	not provided	GPathogenic
Select item 591960	NM_004170.6(SLC1A1):c.1066C>T (p.Arg356Ter)	SLC1A1 (R356*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 591879	NM_004170.6(SLC1A1):c.115C>T (p.Arg39Ter)	SLC1A1 (R39*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 591614	NM_004170.6(SLC1A1):c.1399AAG[1] (p.Lys468del)	SLC1A1 (K468del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 591492	NM_004170.6(SLC1A1):c.91G>C (p.Gly31Arg)	SLC1A1 (G31R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 367032	NM_004170.6(SLC1A1):c.-86G>C	LOC130001482, SLC1A1	Single nucleotide variant (5 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 367031	NM_004170.6(SLC1A1):c.-93G>A	LOC130001482, SLC1A1	Single nucleotide variant (5 prime UTR variant)	Dicarboxylic aminoaciduria	GLikely benign
Select item 367030	NM_004170.6(SLC1A1):c.-167C>G	LOC130001482, SLC1A1	Single nucleotide variant (5 prime UTR variant)	Dicarboxylic aminoaciduria	GLikely benign
Select item 367029	NM_004170.6(SLC1A1):c.-185G>C	LOC130001482, SLC1A1	Single nucleotide variant (5 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 367028	NM_004170.6(SLC1A1):c.-211C>T	LOC130001482, SLC1A1	Single nucleotide variant (5 prime UTR variant)	Dicarboxylic aminoaciduria	GLikely benign