"Ambry Genetics"[submitter] AND "SLC18A2"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1362450	NM_003054.6(SLC18A2):c.45C>A (p.Ser15Arg)	SLC18A2, SLC18A2-AS1 (S15R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2058367	NM_003054.6(SLC18A2):c.49C>T (p.Arg17Cys)	SLC18A2, SLC18A2-AS1 (R17C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2465496	NM_003054.6(SLC18A2):c.367G>C (p.Asp123His)	SLC18A2 (D123H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163230	NM_003054.6(SLC18A2):c.446T>C (p.Ile149Thr)	SLC18A2 (I149T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2140222	NM_003054.6(SLC18A2):c.491C>T (p.Ala164Val)	SLC18A2 (A164V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3163231	NM_003054.6(SLC18A2):c.686C>A (p.Ala229Asp)	SLC18A2 (A229D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363688	NM_003054.6(SLC18A2):c.778C>G (p.Leu260Val)	SLC18A2 (L260V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555629	NM_003054.6(SLC18A2):c.815C>T (p.Pro272Leu)	SLC18A2 (P272L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1402349	NM_003054.6(SLC18A2):c.818C>G (p.Ser273Cys)	SLC18A2 (S273C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2537285	NM_003054.6(SLC18A2):c.829C>T (p.Pro277Ser)	SLC18A2 (P277S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2058355	NM_003054.6(SLC18A2):c.834+6C>T	SLC18A2	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 520810	NM_003054.4(SLC18A2):c.835_836delAG	SLC18A2	Microsatellite	Inborn genetic diseases	GPathogenic
Select item 2515955	NM_003054.6(SLC18A2):c.875C>T (p.Pro292Leu)	SLC18A2 (P292L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 520811	NM_003054.6(SLC18A2):c.895G>C (p.Gly299Arg)	SLC18A2 (G299R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2219223	NM_003054.6(SLC18A2):c.1015A>G (p.Ile339Val)	SLC18A2 (I339V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356248	NM_003054.6(SLC18A2):c.1075C>A (p.Leu359Ile)	SLC18A2 (L359I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163228	NM_003054.6(SLC18A2):c.1097T>C (p.Ile366Thr)	SLC18A2 (I366T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163229	NM_003054.6(SLC18A2):c.1204A>G (p.Met402Val)	SLC18A2 (M402V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521779	NM_003054.6(SLC18A2):c.1243G>A (p.Val415Met)	SLC18A2 (V415M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230500	NM_003054.6(SLC18A2):c.1441-4T>C	SLC18A2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1403313	NM_003054.6(SLC18A2):c.1518TGAAGA[1] (p.Asp508_Glu509del)	SLC18A2	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 2275331	NM_003054.6(SLC18A2):c.1537A>G (p.Ser513Gly)	SLC18A2 (S513G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 22