"Ambry Genetics"[submitter] AND "SLC4A5"[gene] - ClinVar

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

Search results

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2525003	NM_133478.3(SLC4A5):c.3355T>C (p.Tyr1119His)	SLC4A5 (Y1003H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318357	NM_133478.3(SLC4A5):c.3349T>C (p.Trp1117Arg)	SLC4A5 (W1001R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330984	NM_133478.3(SLC4A5):c.3284T>G (p.Met1095Arg)	SLC4A5 (M979R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165124	NM_133478.3(SLC4A5):c.3235T>C (p.Cys1079Arg)	SLC4A5 (C963R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455974	NM_133478.3(SLC4A5):c.3229G>A (p.Glu1077Lys)	SLC4A5 (E1077K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165123	NM_133478.3(SLC4A5):c.3169C>G (p.Leu1057Val)	SLC4A5 (L1057V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507996	NM_133478.3(SLC4A5):c.3083C>T (p.Pro1028Leu)	SLC4A5 (P1028L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305058	NM_133478.3(SLC4A5):c.3079T>C (p.Phe1027Leu)	SLC4A5 (F1043L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548211	NM_133478.3(SLC4A5):c.3056A>G (p.Lys1019Arg)	SLC4A5 (K1019R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277404	NM_133478.3(SLC4A5):c.2677G>A (p.Val893Met)	SLC4A5 (V893M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165121	NM_133478.3(SLC4A5):c.2672G>C (p.Trp891Ser)	SLC4A5 (W775S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165120	NM_133478.3(SLC4A5):c.2665C>T (p.Leu889Phe)	SLC4A5 (L773F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222861	NM_133478.3(SLC4A5):c.2638C>G (p.Leu880Val)	SLC4A5 (L764V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165119	NM_133478.3(SLC4A5):c.2563G>A (p.Val855Ile)	SLC4A5 (V739I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517110	NM_133478.3(SLC4A5):c.2414A>G (p.His805Arg)	SLC4A5 (H689R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165118	NM_133478.3(SLC4A5):c.2323C>T (p.Arg775Trp)	SLC4A5 (R775W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396060	NM_133478.3(SLC4A5):c.2302C>T (p.Arg768Cys)	SLC4A5 (R652C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615399	NM_133478.3(SLC4A5):c.2237T>A (p.Met746Lys)	SLC4A5 (M630K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395239	NM_133478.3(SLC4A5):c.2195T>C (p.Leu732Pro)	SLC4A5 (L616P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619950	NM_133478.3(SLC4A5):c.2109C>G (p.Asn703Lys)	SLC4A5 (N703K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261887	NM_133478.3(SLC4A5):c.2104A>G (p.Thr702Ala)	SLC4A5 (T586A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552241	NM_133478.3(SLC4A5):c.2103C>A (p.Asp701Glu)	SLC4A5 (D701E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541853	NM_133478.3(SLC4A5):c.2029T>C (p.Tyr677His)	SLC4A5 (Y677H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225131	NM_133478.3(SLC4A5):c.2020A>T (p.Ile674Phe)	SLC4A5 (I674F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373480	NM_133478.3(SLC4A5):c.2016C>A (p.Asn672Lys)	SLC4A5 (N672K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165117	NM_133478.3(SLC4A5):c.1999A>G (p.Met667Val)	SLC4A5 (M667V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370281	NM_133478.3(SLC4A5):c.1961A>G (p.Lys654Arg)	SLC4A5 (K538R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165115	NM_133478.3(SLC4A5):c.1933A>G (p.Ser645Gly)	SLC4A5 (S529G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165114	NM_133478.3(SLC4A5):c.1925C>G (p.Thr642Ser)	SLC4A5 (T642S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405351	NM_133478.3(SLC4A5):c.1900C>T (p.Arg634Cys)	SLC4A5 (R518C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218459	NM_133478.3(SLC4A5):c.1705C>G (p.Leu569Val)	SLC4A5 (L569V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293314	NM_133478.3(SLC4A5):c.1701C>G (p.Phe567Leu)	SLC4A5 (F567L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165113	NM_133478.3(SLC4A5):c.1585T>C (p.Tyr529His)	LOC129934113, SLC4A5 (Y413H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221374	NM_133478.3(SLC4A5):c.1457A>C (p.Glu486Ala)	SLC4A5 (E486A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328594	NM_133478.3(SLC4A5):c.1352G>A (p.Gly451Glu)	SLC4A5 (G335E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330983	NM_133478.3(SLC4A5):c.1334C>T (p.Ala445Val)	SLC4A5 (A329V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3165112	NM_133478.3(SLC4A5):c.1288G>T (p.Ala430Ser)	SLC4A5 (A430S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489745	NM_133478.3(SLC4A5):c.1274C>A (p.Ser425Tyr)	SLC4A5 (S309Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165111	NM_133478.3(SLC4A5):c.1247A>T (p.Lys416Met)	SLC4A5 (K300M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369815	NM_133478.3(SLC4A5):c.1195G>A (p.Val399Ile)	SLC4A5 (V283I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355149	NM_133478.3(SLC4A5):c.1168A>G (p.Ile390Val)	SLC4A5 (I274V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213253	NM_133478.3(SLC4A5):c.1162G>A (p.Ala388Thr)	SLC4A5 (A388T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165110	NM_133478.3(SLC4A5):c.1093G>A (p.Ala365Thr)	SLC4A5 (A249T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165109	NM_133478.3(SLC4A5):c.1012C>T (p.Pro338Ser)	SLC4A5 (P222S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165130	NM_133478.3(SLC4A5):c.885G>A (p.Met295Ile)	SLC4A5 (M295I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241166	NM_133478.3(SLC4A5):c.762C>G (p.His254Gln)	SLC4A5 (H254Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165128	NM_133478.3(SLC4A5):c.749C>T (p.Pro250Leu)	SLC4A5 (P134L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165127	NM_133478.3(SLC4A5):c.742G>A (p.Ala248Thr)	SLC4A5 (A132T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373209	NM_133478.3(SLC4A5):c.719G>A (p.Arg240His)	SLC4A5 (R240H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245672	NM_133478.3(SLC4A5):c.649C>T (p.Arg217Cys)	SLC4A5 (R101C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338714	NM_133478.3(SLC4A5):c.563A>G (p.Asp188Gly)	SLC4A5 (D188G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165126	NM_133478.3(SLC4A5):c.518C>T (p.Thr173Met)	SLC4A5 (T173M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165125	NM_133478.3(SLC4A5):c.497G>A (p.Arg166His)	SLC4A5 (R166H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288502	NM_133478.3(SLC4A5):c.496C>T (p.Arg166Cys)	SLC4A5 (R166C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302407	NM_133478.3(SLC4A5):c.374A>G (p.Asp125Gly)	SLC4A5 (D125G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244310	NM_133478.3(SLC4A5):c.343A>G (p.Thr115Ala)	SLC4A5 (T115A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2344209	NM_133478.3(SLC4A5):c.307G>A (p.Gly103Arg)	SLC4A5 (G103R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3165122	NM_133478.3(SLC4A5):c.298G>A (p.Asp100Asn)	SLC4A5 (D100N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2379872	NM_133478.3(SLC4A5):c.157G>A (p.Gly53Ser)	SLC4A5 (G53S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537663	NM_133478.3(SLC4A5):c.46A>G (p.Thr16Ala)	SLC4A5 (T16A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2326149	NM_133478.3(SLC4A5):c.7G>A (p.Val3Met)	SLC4A5 (V3M)	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: 61