"Ambry Genetics"[submitter] AND "SLC4A2"[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2533111	NM_003040.4(SLC4A2):c.34G>A (p.Ala12Thr)	SLC4A2 (A12T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165059	NM_003040.4(SLC4A2):c.281G>A (p.Arg94His)	SLC4A2 (R94H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257223	NM_003040.4(SLC4A2):c.286C>T (p.Arg96Cys)	SLC4A2 (R96C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492095	NM_003040.4(SLC4A2):c.302G>T (p.Gly101Val)	SLC4A2 (G87V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165068	NM_003040.4(SLC4A2):c.385G>T (p.Asp129Tyr)	SLC4A2 (D120Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387068	NM_003040.4(SLC4A2):c.412C>T (p.Arg138Trp)	SLC4A2 (R124W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304793	NM_003040.4(SLC4A2):c.490C>T (p.Arg164Trp)	SLC4A2 (R150W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352816	NM_003040.4(SLC4A2):c.491G>A (p.Arg164Gln)	SLC4A2 (R164Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165070	NM_003040.4(SLC4A2):c.503G>A (p.Arg168Lys)	SLC4A2 (R154K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165071	NM_003040.4(SLC4A2):c.530T>C (p.Leu177Pro)	SLC4A2 (L163P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324967	NM_003040.4(SLC4A2):c.584A>C (p.Gln195Pro)	SLC4A2 (Q181P +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3165072	NM_003040.4(SLC4A2):c.586G>A (p.Val196Met)	SLC4A2 (V187M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519801	NM_003040.4(SLC4A2):c.635G>T (p.Gly212Val)	SLC4A2 (G203V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296391	NM_003040.4(SLC4A2):c.661C>T (p.Arg221Cys)	SLC4A2 (R221C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165073	NM_003040.4(SLC4A2):c.695G>A (p.Ser232Asn)	SLC4A2 (S223N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469957	NM_003040.4(SLC4A2):c.791C>T (p.Thr264Met)	SLC4A2 (T250M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368004	NM_003040.4(SLC4A2):c.841G>A (p.Val281Ile)	SLC4A2 (V267I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348822	NM_003040.4(SLC4A2):c.910C>T (p.Arg304Trp)	SLC4A2 (R290W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538368	NM_003040.4(SLC4A2):c.931C>G (p.Arg311Gly)	SLC4A2 (R311G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509394	NM_003040.4(SLC4A2):c.938G>A (p.Arg313Gln)	SLC4A2 (R299Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484944	NM_003040.4(SLC4A2):c.952C>G (p.His318Asp)	SLC4A2 (H309D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317936	NM_003040.4(SLC4A2):c.1022G>A (p.Arg341Gln)	SLC4A2 (R327Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165051	NM_003040.4(SLC4A2):c.1068G>C (p.Glu356Asp)	SLC4A2 (E356D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535245	NM_003040.4(SLC4A2):c.1154T>C (p.Val385Ala)	SLC4A2 (V376A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294051	NM_003040.4(SLC4A2):c.1254C>G (p.Asn418Lys)	SLC4A2 (N404K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598028	NM_003040.4(SLC4A2):c.1255G>A (p.Val419Met)	SLC4A2 (V405M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592396	NM_003040.4(SLC4A2):c.1318C>G (p.Arg440Gly)	SLC4A2 (R431G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165052	NM_003040.4(SLC4A2):c.1423G>A (p.Glu475Lys)	SLC4A2 (E461K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330644	NM_003040.4(SLC4A2):c.1457T>C (p.Leu486Pro)	SLC4A2 (L486P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165053	NM_003040.4(SLC4A2):c.1460C>T (p.Pro487Leu)	SLC4A2 (P487L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165054	NM_003040.4(SLC4A2):c.1471C>T (p.Pro491Ser)	SLC4A2 (P491S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408056	NM_003040.4(SLC4A2):c.1483A>G (p.Ile495Val)	SLC4A2 (I481V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308469	NM_003040.4(SLC4A2):c.1493C>T (p.Ser498Phe)	SLC4A2 (S484F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509731	NM_003040.4(SLC4A2):c.1570G>A (p.Val524Met)	SLC4A2 (V515M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165055	NM_003040.4(SLC4A2):c.1573G>C (p.Glu525Gln)	SLC4A2 (E525Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165056	NM_003040.4(SLC4A2):c.1575G>T (p.Glu525Asp)	SLC4A2 (E516D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226011	NM_003040.4(SLC4A2):c.1685C>T (p.Pro562Leu)	SLC4A2 (P553L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570067	NM_003040.4(SLC4A2):c.1759G>A (p.Glu587Lys)	SLC4A2 (E573K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591540	NM_003040.4(SLC4A2):c.1870C>T (p.Arg624Cys)	SLC4A2 (R615C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396824	NM_003040.4(SLC4A2):c.1966C>G (p.Gln656Glu)	SLC4A2 (Q642E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456894	NM_003040.4(SLC4A2):c.2074C>T (p.Arg692Cys)	SLC4A2 (R692C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236598	NM_003040.4(SLC4A2):c.2084A>T (p.His695Leu)	SLC4A2 (H681L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165057	NM_003040.4(SLC4A2):c.2131G>A (p.Ala711Thr)	SLC4A2 (A702T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566724	NM_003040.4(SLC4A2):c.2462G>A (p.Arg821His)	SLC4A2 (R821H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539722	NM_003040.4(SLC4A2):c.2570C>G (p.Ala857Gly)	SLC4A2 (A848G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165058	NM_003040.4(SLC4A2):c.2639C>T (p.Pro880Leu)	SLC4A2 (P866L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246458	NM_003040.4(SLC4A2):c.2680C>G (p.Pro894Ala)	SLC4A2 (P885A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459912	NM_003040.4(SLC4A2):c.2683C>T (p.Arg895Trp)	SLC4A2 (R886W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269243	NM_003040.4(SLC4A2):c.2699C>T (p.Thr900Met)	SLC4A2 (T891M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592896	NM_003040.4(SLC4A2):c.2789G>A (p.Arg930Gln)	SLC4A2 (R916Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165060	NM_003040.4(SLC4A2):c.2855A>T (p.Tyr952Phe)	SLC4A2 (Y952F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588460	NM_003040.4(SLC4A2):c.2858G>A (p.Ser953Asn)	SLC4A2 (S939N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165062	NM_003040.4(SLC4A2):c.2869A>C (p.Thr957Pro)	SLC4A2 (T957P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165063	NM_003040.4(SLC4A2):c.2915C>T (p.Ala972Val)	SLC4A2 (A958V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622431	NM_003040.4(SLC4A2):c.2938A>T (p.Ile980Phe)	SLC4A2 (I980F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165064	NM_003040.4(SLC4A2):c.2990G>C (p.Ser997Thr)	SLC4A2 (S988T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606722	NM_003040.4(SLC4A2):c.3136T>G (p.Cys1046Gly)	SLC4A2 (C1037G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473632	NM_003040.4(SLC4A2):c.3193G>A (p.Ala1065Thr)	SLC4A2 (A1051T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601826	NM_003040.4(SLC4A2):c.3252G>T (p.Gln1084His)	SLC4A2 (Q1070H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165065	NM_003040.4(SLC4A2):c.3332G>A (p.Arg1111Gln)	SLC4A2 (R1097Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605773	NM_003040.4(SLC4A2):c.3409G>A (p.Glu1137Lys)	SLC4A2 (E1128K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382540	NM_003040.4(SLC4A2):c.3485G>A (p.Arg1162His)	SLC4A2 (R1148H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165066	NM_003040.4(SLC4A2):c.3490C>T (p.His1164Tyr)	SLC4A2 (H1164Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165067	NM_003040.4(SLC4A2):c.3611T>A (p.Leu1204His)	SLC4A2 (L1195H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2428571	NM_003040.4(SLC4A2):c.3632G>A (p.Arg1211Gln)	SLC4A2 (R1197Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2613674	NM_003040.4(SLC4A2):c.3668C>G (p.Pro1223Arg)	SLC4A2 (P1209R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 66