"Ambry Genetics"[submitter] AND "SLC18A1"[gene] - ClinVar

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

Search results

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2280132	NM_003053.4(SLC18A1):c.1559A>G (p.Glu520Gly)	SLC18A1 (E488G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489040	NM_003053.4(SLC18A1):c.1496C>A (p.Thr499Asn)	SLC18A1 (D454E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163218	NM_003053.4(SLC18A1):c.1471C>T (p.Leu491=)	SLC18A1 (S446F)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2549130	NM_003053.4(SLC18A1):c.1445C>T (p.Pro482Leu)	SLC18A1 (P482L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163217	NM_003053.4(SLC18A1):c.1439G>A (p.Ser480Asn)	SLC18A1 (S480N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455491	NM_003053.4(SLC18A1):c.1412A>G (p.Tyr471Cys)	SLC18A1 (Y471C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163216	NM_003053.4(SLC18A1):c.1405A>T (p.Ile469Phe)	SLC18A1 (I437F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550045	NM_003053.4(SLC18A1):c.1367G>T (p.Gly456Val)	SLC18A1 (G424V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372330	NM_003053.4(SLC18A1):c.1355T>G (p.Val452Gly)	SLC18A1 (V420G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163215	NM_003053.4(SLC18A1):c.1345G>T (p.Gly449Cys)	SLC18A1 (G449C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163214	NM_003053.4(SLC18A1):c.1297G>A (p.Ala433Thr)	SLC18A1 (A401T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255988	NM_003053.4(SLC18A1):c.1294A>G (p.Ile432Val)	SLC18A1 (I400V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355488	NM_003053.4(SLC18A1):c.1261C>T (p.Arg421Cys)	SLC18A1 (R389C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163213	NM_003053.4(SLC18A1):c.1234C>A (p.Pro412Thr)	SLC18A1 (P380T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493108	NM_003053.4(SLC18A1):c.1195C>G (p.Leu399Val)	SLC18A1 (L367V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602750	NM_003053.4(SLC18A1):c.1168T>C (p.Phe390Leu)	SLC18A1 (F358L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205530	NM_003053.4(SLC18A1):c.1093C>T (p.Arg365Trp)	SLC18A1 (R333W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228297	NM_003053.4(SLC18A1):c.1079C>G (p.Ala360Gly)	SLC18A1 (A328G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511061	NM_003053.4(SLC18A1):c.1012C>G (p.Leu338Val)	LOC126860318, SLC18A1 (L338V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341784	NM_003053.4(SLC18A1):c.1000C>A (p.Pro334Thr)	LOC126860318, SLC18A1 (P334T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568701	NM_003053.4(SLC18A1):c.923C>T (p.Ser308Phe)	LOC126860318, SLC18A1 (S308F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319000	NM_003053.4(SLC18A1):c.914C>T (p.Ala305Val)	LOC126860318, SLC18A1 (A305V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303877	NM_003053.4(SLC18A1):c.868G>A (p.Gly290Arg)	LOC126860318, SLC18A1 (G290R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622339	NM_003053.4(SLC18A1):c.841T>A (p.Ser281Thr)	SLC18A1 (S281T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607477	NM_003053.4(SLC18A1):c.839C>A (p.Pro280His)	SLC18A1 (P280H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163227	NM_003053.4(SLC18A1):c.832C>G (p.Leu278Val)	SLC18A1 (L278V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596554	NM_003053.4(SLC18A1):c.742A>G (p.Ser248Gly)	SLC18A1 (S248G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380055	NM_003053.4(SLC18A1):c.685A>G (p.Met229Val)	SLC18A1 (M229V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319002	NM_003053.4(SLC18A1):c.665A>C (p.Asp222Ala)	SLC18A1 (D222A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245362	NM_003053.4(SLC18A1):c.664G>A (p.Asp222Asn)	SLC18A1 (D222N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381342	NM_003053.4(SLC18A1):c.605T>C (p.Ile202Thr)	SLC18A1 (I202T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163226	NM_003053.4(SLC18A1):c.553G>C (p.Ala185Pro)	SLC18A1 (A185P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163225	NM_003053.4(SLC18A1):c.538T>A (p.Ser180Thr)	SLC18A1 (S180T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545644	NM_003053.4(SLC18A1):c.526A>T (p.Ile176Phe)	SLC18A1 (I176F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408251	NM_003053.4(SLC18A1):c.505C>T (p.Pro169Ser)	SLC18A1 (P169S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163224	NM_003053.4(SLC18A1):c.486C>A (p.Asn162Lys)	SLC18A1 (N162K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318998	NM_003053.4(SLC18A1):c.485A>G (p.Asn162Ser)	SLC18A1 (N162S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163222	NM_003053.4(SLC18A1):c.469G>A (p.Val157Met)	SLC18A1 (V157M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318999	NM_003053.4(SLC18A1):c.463C>A (p.Pro155Thr)	SLC18A1 (P155T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303223	NM_003053.4(SLC18A1):c.462C>A (p.Asn154Lys)	SLC18A1 (N154K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328813	NM_003053.4(SLC18A1):c.451C>T (p.Leu151Phe)	SLC18A1 (L151F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328165	NM_003053.4(SLC18A1):c.446T>C (p.Met149Thr)	SLC18A1 (M149T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163221	NM_003053.4(SLC18A1):c.396G>C (p.Leu132Phe)	SLC18A1 (L132F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492650	NM_003053.4(SLC18A1):c.385A>C (p.Thr129Pro)	SLC18A1 (T129P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470853	NM_003053.4(SLC18A1):c.268G>A (p.Val90Met)	SLC18A1 (V90M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2472485	NM_003053.4(SLC18A1):c.245T>G (p.Phe82Cys)	SLC18A1 (F82C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236386	NM_003053.4(SLC18A1):c.220G>A (p.Ala74Thr)	SLC18A1 (A74T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3163219	NM_003053.4(SLC18A1):c.190G>A (p.Gly64Ser)	SLC18A1 (G64S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319001	NM_003053.4(SLC18A1):c.103A>G (p.Asn35Asp)	SLC18A1 (N35D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463137	NM_003053.4(SLC18A1):c.88G>A (p.Ala30Thr)	SLC18A1 (A30T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256803	NM_003053.4(SLC18A1):c.55T>C (p.Ser19Pro)	SLC18A1 (S19P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298665	NM_003053.4(SLC18A1):c.52G>A (p.Ala18Thr)	SLC18A1 (A18T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328342	NM_003053.4(SLC18A1):c.47G>C (p.Gly16Ala)	SLC18A1 (G16A)	Single nucleotide variant (missense variant)	not specified	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: 53