"SLC1A2-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3036260	NM_004171.4(SLC1A2):c.1422-3C>T	SLC1A2	Single nucleotide variant (intron variant)	SLC1A2-related disorder	GLikely benign
Select item 3036982	NM_004171.4(SLC1A2):c.1422-10_1422-9insCC	SLC1A2	Insertion (intron variant)	SLC1A2-related disorder	GLikely benign
Select item 1165250	NM_004171.4(SLC1A2):c.1365A>G (p.Thr455=)	SLC1A2	Single nucleotide variant (synonymous variant)	SLC1A2-related disorder +1 more	GBenign
Select item 707367	NM_004171.4(SLC1A2):c.1302G>A (p.Leu434=)	SLC1A2	Single nucleotide variant (synonymous variant)	SLC1A2-related disorder +1 more	GBenign
Select item 1382592	NM_004171.4(SLC1A2):c.1225G>A (p.Ala409Thr)	SLC1A2 (A400T +1 more)	Single nucleotide variant (missense variant)	SLC1A2-related disorder +2 more	GUncertain significance
Select item 2630308	NM_004171.4(SLC1A2):c.951G>A (p.Met317Ile)	SLC1A2 (M308I +1 more)	Single nucleotide variant (missense variant)	SLC1A2-related disorder	GUncertain significance
Select item 766935	NM_004171.4(SLC1A2):c.711G>A (p.Lys237=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 377107	NM_004171.4(SLC1A2):c.668C>A (p.Pro223Gln)	SLC1A2 (P223Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 707671	NM_004171.4(SLC1A2):c.600G>A (p.Pro200=)	SLC1A2	Single nucleotide variant (synonymous variant)	SLC1A2-related disorder +1 more	GLikely benign
Select item 1167574	NM_004171.4(SLC1A2):c.444G>A (p.Lys148=)	SLC1A2	Single nucleotide variant (synonymous variant)	SLC1A2-related disorder +1 more	GBenign/Likely benign
Select item 1473212	NM_004171.4(SLC1A2):c.320G>A (p.Gly107Asp)	SLC1A2 (G98D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1169663	NM_004171.4(SLC1A2):c.150G>A (p.Thr50=)	SLC1A2	Single nucleotide variant (synonymous variant)	SLC1A2-related disorder +1 more	GBenign/Likely benign
Select item 1571617	NM_004171.4(SLC1A2):c.92G>A (p.Arg31Gln)	SLC1A2 (R22Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1107261	NM_004171.4(SLC1A2):c.16G>A (p.Gly6Ser)	SLC1A2 (G6S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity