"Ambry Genetics"[submitter] AND "SLC4A3"[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2484695	NM_005070.4(SLC4A3):c.23C>T (p.Pro8Leu)	SLC4A3 (P8L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2357001	NM_005070.4(SLC4A3):c.74C>G (p.Pro25Arg)	SLC4A3 (P25R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2239197	NM_005070.4(SLC4A3):c.200G>A (p.Ser67Asn)	SLC4A3 (S67N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2519195	NM_005070.4(SLC4A3):c.262C>T (p.Arg88Cys)	SLC4A3 (R88C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2242807	NM_005070.4(SLC4A3):c.352C>T (p.Pro118Ser)	SLC4A3 (P118S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2588505	NM_005070.4(SLC4A3):c.394G>A (p.Ala132Thr)	SLC4A3 (A132T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2612671	NM_005070.4(SLC4A3):c.466C>A (p.Pro156Thr)	SLC4A3 (P156T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2258585	NM_005070.4(SLC4A3):c.469C>T (p.His157Tyr)	SLC4A3 (H157Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2334734	NM_005070.4(SLC4A3):c.541A>G (p.Arg181Gly)	SLC4A3 (R181G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2544940	NM_005070.4(SLC4A3):c.569C>T (p.Ser190Leu)	SLC4A3 (S190L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2398062	NM_005070.4(SLC4A3):c.612-44G>A	SLC4A3 (D217N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2490620	NM_005070.4(SLC4A3):c.612-22G>A	SLC4A3 (R224K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2409486	NM_005070.4(SLC4A3):c.619A>C (p.Ser207Arg)	SLC4A3 (S234R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2386810	NM_005070.4(SLC4A3):c.646G>A (p.Ala216Thr)	SLC4A3 (A216T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2454800	NM_005070.4(SLC4A3):c.672C>G (p.Ser224Arg)	SLC4A3 (S224R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2407607	NM_005070.4(SLC4A3):c.733G>C (p.Gly245Arg)	SLC4A3 (G272R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2334470	NM_005070.4(SLC4A3):c.880G>A (p.Gly294Arg)	SLC4A3 (G294R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2378223	NM_005070.4(SLC4A3):c.917G>A (p.Arg306His)	SLC4A3 (R306H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2311925	NM_005070.4(SLC4A3):c.950G>C (p.Arg317Thr)	SLC4A3 (R344T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2288188	NM_005070.4(SLC4A3):c.1106G>A (p.Arg369His)	SLC4A3 (R369H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2265150	NM_005070.4(SLC4A3):c.1135G>A (p.Ala379Thr)	SLC4A3 (A379T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2215865	NM_005070.4(SLC4A3):c.1288G>A (p.Asp430Asn)	SLC4A3 (D430N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210546	NM_005070.4(SLC4A3):c.1343C>T (p.Ser448Leu)	SLC4A3 (S475L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2411117	NM_005070.4(SLC4A3):c.1594G>A (p.Ala532Thr)	SLC4A3 (A532T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2308928	NM_005070.4(SLC4A3):c.1684A>G (p.Ser562Gly)	SLC4A3 (S589G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2203804	NM_005070.4(SLC4A3):c.1781G>A (p.Arg594Gln)	SLC4A3 (R594Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2352606	NM_005070.4(SLC4A3):c.1807G>A (p.Glu603Lys)	SLC4A3 (E603K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2354653	NM_005070.4(SLC4A3):c.1933G>A (p.Glu645Lys)	SLC4A3 (E645K +1 more)	Single nucleotide variant (missense variant +1 more)	SLC4A3-related condition +1 more	GUncertain significance
Select item 2346570	NM_005070.4(SLC4A3):c.2003C>T (p.Ala668Val)	SLC4A3 (A668V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2607052	NM_005070.4(SLC4A3):c.2033C>T (p.Thr678Met)	SLC4A3 (T678M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2459009	NM_005070.4(SLC4A3):c.2039C>T (p.Ser680Leu)	SLC4A3 (S680L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2263468	NM_005070.4(SLC4A3):c.2102G>A (p.Arg701Gln)	SLC4A3 (R701Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 64554	NM_005070.4(SLC4A3):c.2233G>A (p.Val745Met)	SLC4A3 (V745M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2549992	NM_005070.4(SLC4A3):c.2242G>A (p.Ala748Thr)	SLC4A3 (A748T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2259640	NM_005070.4(SLC4A3):c.2330C>G (p.Ala777Gly)	SLC4A3 (A804G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2517132	NM_005070.4(SLC4A3):c.2410G>A (p.Val804Ile)	SLC4A3 (V804I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 521163	NM_005070.4(SLC4A3):c.2459C>T (p.Ser820Leu)	SLC4A3 (S847L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2555923	NM_005070.4(SLC4A3):c.2522A>G (p.Tyr841Cys)	SLC4A3 (Y868C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2464355	NM_005070.4(SLC4A3):c.2641G>A (p.Glu881Lys)	SLC4A3 (E908K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2265462	NM_005070.4(SLC4A3):c.2680C>G (p.Leu894Val)	SLC4A3 (L894V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 521164	NM_005070.4(SLC4A3):c.2774G>A (p.Arg925His)	SLC4A3 (R952H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2394013	NM_005070.4(SLC4A3):c.2935C>T (p.Arg979Cys)	SLC4A3 (R1006C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2622075	NM_005070.4(SLC4A3):c.3203C>T (p.Ala1068Val)	SLC4A3 (A1095V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2235328	NM_005070.4(SLC4A3):c.3224T>G (p.Ile1075Ser)	SLC4A3 (I1102S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2340462	NM_005070.4(SLC4A3):c.3269G>C (p.Ser1090Thr)	SLC4A3 (S1090T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2408253	NM_005070.4(SLC4A3):c.3311G>A (p.Arg1104Gln)	SLC4A3 (R1131Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2494990	NM_005070.4(SLC4A3):c.3460C>T (p.Arg1154Trp)	SLC4A3 (R1154W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2603455	NM_005070.4(SLC4A3):c.3537C>T (p.Leu1179=)	SLC4A3	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign

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Items: 48