"SLC10A2-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3045080	NM_000452.3(SLC10A2):c.*4dup	SLC10A2	Duplication (3 prime UTR variant)	SLC10A2-related disorder	GLikely benign
Select item 593415	NM_000452.3(SLC10A2):c.1038C>T (p.Asp346=)	SLC10A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2718996	NM_000452.3(SLC10A2):c.1024G>A (p.Gly342Arg)	SLC10A2 (G342R)	Single nucleotide variant (missense variant)	SLC10A2-related disorder +1 more	GUncertain significance
Select item 2905626	NM_000452.3(SLC10A2):c.990G>A (p.Thr330=)	SLC10A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 500243	NM_000452.3(SLC10A2):c.910T>C (p.Phe304Leu)	SLC10A2 (F304L)	Single nucleotide variant (missense variant)	SLC10A2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2200016	NM_000452.3(SLC10A2):c.903C>T (p.Ala301=)	SLC10A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 597941	NM_000452.3(SLC10A2):c.870G>A (p.Pro290=)	SLC10A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 596703	NM_000452.3(SLC10A2):c.835A>T (p.Thr279Ser)	SLC10A2 (T279S)	Single nucleotide variant (missense variant)	SLC10A2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 242727	NM_000452.3(SLC10A2):c.785C>T (p.Thr262Met)	SLC10A2 (T262M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 594444	NM_000452.3(SLC10A2):c.767G>A (p.Arg256Gln)	SLC10A2 (R256Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2186060	NM_000452.3(SLC10A2):c.737G>C (p.Arg246Thr)	SLC10A2 (R246T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2629093	NM_000452.3(SLC10A2):c.620T>G (p.Leu207Arg)	SLC10A2 (L207R)	Single nucleotide variant (missense variant)	SLC10A2-related disorder	GUncertain significance
Select item 3030659	NM_000452.3(SLC10A2):c.586-3dup	SLC10A2	Duplication (intron variant)	SLC10A2-related disorder	GLikely benign
Select item 2066732	NM_000452.3(SLC10A2):c.586-4del	SLC10A2	Deletion (intron variant)	SLC10A2-related disorder +1 more	GBenign/Likely benign
Select item 1974107	NM_000452.3(SLC10A2):c.585+4A>G	SLC10A2	Single nucleotide variant (intron variant)	SLC10A2-related disorder +1 more	GUncertain significance
Select item 594450	NM_000452.3(SLC10A2):c.561C>G (p.Pro187=)	SLC10A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 502390	NM_000452.3(SLC10A2):c.560C>T (p.Pro187Leu)	SLC10A2 (P187L)	Single nucleotide variant (missense variant)	SLC10A2-related disorder +1 more	GUncertain significance
Select item 2636692	NM_000452.3(SLC10A2):c.557G>A (p.Trp186Ter)	SLC10A2 (W186*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 2060999	NM_000452.3(SLC10A2):c.517G>A (p.Val173Ile)	SLC10A2 (V173I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3031147	NM_000452.3(SLC10A2):c.498T>C (p.Gly166=)	SLC10A2	Single nucleotide variant (synonymous variant)	SLC10A2-related disorder	GLikely benign
Select item 2190994	NM_000452.3(SLC10A2):c.497-13_497-4del	SLC10A2	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2018253	NM_000452.3(SLC10A2):c.495A>T (p.Ile165=)	SLC10A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3036972	NM_000452.3(SLC10A2):c.483C>T (p.Pro161=)	SLC10A2	Single nucleotide variant (synonymous variant)	SLC10A2-related disorder	GLikely benign
Select item 3046706	NM_000452.3(SLC10A2):c.464C>G (p.Ser155Cys)	SLC10A2 (S155C)	Single nucleotide variant (missense variant)	SLC10A2-related disorder	GUncertain significance
Select item 3031244	NM_000452.3(SLC10A2):c.459C>T (p.Val153=)	SLC10A2	Single nucleotide variant (synonymous variant)	SLC10A2-related disorder	GLikely benign
Select item 501088	NM_000452.3(SLC10A2):c.425C>T (p.Pro142Leu)	SLC10A2 (P142L)	Single nucleotide variant (missense variant)	SLC10A2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 593282	NM_000452.3(SLC10A2):c.415G>A (p.Gly139Arg)	SLC10A2 (G139R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2629328	NM_000452.3(SLC10A2):c.370G>C (p.Asp124His)	SLC10A2 (D124H)	Single nucleotide variant (missense variant)	SLC10A2-related disorder +1 more	GUncertain significance
Select item 594768	NM_000452.3(SLC10A2):c.363C>T (p.Gly121=)	SLC10A2	Single nucleotide variant (synonymous variant)	SLC10A2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2029011	NM_000452.3(SLC10A2):c.332C>T (p.Ala111Val)	SLC10A2 (A111V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3061150	NM_000452.3(SLC10A2):c.308_309del (p.Ile103fs)	SLC10A2 (I103fs)	Microsatellite (frameshift variant)	SLC10A2-related disorder	GUncertain significance
Select item 501526	NM_000452.3(SLC10A2):c.269T>C (p.Phe90Ser)	SLC10A2 (F90S)	Single nucleotide variant (missense variant)	SLC10A2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 500638	NM_000452.3(SLC10A2):c.261G>A (p.Ser87=)	SLC10A2	Single nucleotide variant (synonymous variant)	SLC10A2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 500771	NM_000452.3(SLC10A2):c.246A>G (p.Thr82=)	SLC10A2	Single nucleotide variant (synonymous variant)	SLC10A2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 501421	NM_000452.3(SLC10A2):c.230G>A (p.Gly77Glu)	SLC10A2 (G77E)	Single nucleotide variant (missense variant)	SLC10A2-related disorder +2 more	GUncertain significance
Select item 2195543	NM_000452.3(SLC10A2):c.162_203dup (p.Ile68_Cys69insIleLysLysPheLeuGlyHisIleLysArgProTrpGlyIle)	SLC10A2	Duplication (inframe_insertion)	not provided +1 more	GUncertain significance
Select item 872454	NM_000452.3(SLC10A2):c.197G>A (p.Trp66Ter)	SLC10A2 (W66*)	Single nucleotide variant (nonsense)	SLC10A2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 502051	NM_000452.3(SLC10A2):c.194C>T (p.Pro65Leu)	SLC10A2 (P65L)	Single nucleotide variant (missense variant)	SLC10A2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 500386	NM_000452.3(SLC10A2):c.190C>T (p.Arg64Trp)	SLC10A2 (R64W)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2635038	NM_000452.3(SLC10A2):c.157G>A (p.Val53Met)	SLC10A2 (V53M)	Single nucleotide variant (missense variant)	SLC10A2-related disorder +1 more	GUncertain significance
Select item 501874	NM_000452.3(SLC10A2):c.132G>C (p.Leu44Phe)	SLC10A2 (L44F)	Single nucleotide variant (missense variant)	SLC10A2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3029300	NM_000452.3(SLC10A2):c.123G>A (p.Leu41=)	SLC10A2	Single nucleotide variant (synonymous variant)	SLC10A2-related disorder	GLikely benign
Select item 807040	NM_000452.3(SLC10A2):c.80A>G (p.Asn27Ser)	SLC10A2 (N27S)	Single nucleotide variant (missense variant)	SLC10A2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 595240	NM_000452.3(SLC10A2):c.39T>G (p.Val13=)	SLC10A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 44