"Ambry Genetics"[submitter] AND "SLC4A11"[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2514732	NM_001174089.2(SLC4A11):c.2512A>T (p.Met838Leu)	SLC4A11 (M819L +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2145944	NM_001174089.2(SLC4A11):c.2512A>G (p.Met838Val)	SLC4A11 (M800V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2464207	NM_001174089.2(SLC4A11):c.2282A>G (p.Gln761Arg)	SLC4A11 (Q742R +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 338237	NM_001174089.2(SLC4A11):c.2226G>A (p.Ser742=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	Corneal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 2290762	NM_001174089.2(SLC4A11):c.2164C>T (p.Arg722Cys)	SLC4A11 (R684C +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2599975	NM_001174089.2(SLC4A11):c.2141G>A (p.Arg714Gln)	SLC4A11 (R719Q +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 338243	NM_001174089.2(SLC4A11):c.1862G>A (p.Arg621His)	SLC4A11 (R637H +3 more)	Single nucleotide variant (missense variant +1 more)	Corneal dystrophy +4 more	GUncertain significance
Select item 1695994	NM_001174089.2(SLC4A11):c.1861C>T (p.Arg621Cys)	SLC4A11 (R583C +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2475536	NM_001174089.2(SLC4A11):c.1854C>A (p.Ser618Arg)	SLC4A11 (S634R +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165030	NM_001174089.2(SLC4A11):c.1819A>G (p.Ile607Val)	SLC4A11 (I612V +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2526565	NM_001174089.2(SLC4A11):c.1816C>G (p.Leu606Val)	SLC4A11 (L622V +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1411222	NM_001174089.2(SLC4A11):c.1703C>T (p.Thr568Met)	SLC4A11 (T584M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3165029	NM_001174089.2(SLC4A11):c.1687C>G (p.Leu563Val)	SLC4A11 (L563V +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2390042	NM_001174089.2(SLC4A11):c.1678C>T (p.Leu560Phe)	SLC4A11 (L522F +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165028	NM_001174089.2(SLC4A11):c.1588G>A (p.Ala530Thr)	SLC4A11 (A546T +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2620305	NM_001174089.2(SLC4A11):c.1513C>A (p.His505Asn)	SLC4A11 (H486N +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2533226	NM_001174089.2(SLC4A11):c.1481C>T (p.Thr494Met)	SLC4A11 (T475M +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2299705	NM_001174089.2(SLC4A11):c.1385A>G (p.Asn462Ser)	SLC4A11 (N424S +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2344409	NM_001174089.2(SLC4A11):c.1373A>G (p.Tyr458Cys)	SLC4A11 (Y458C +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2482130	NM_001174089.2(SLC4A11):c.1289G>A (p.Arg430His)	SLC4A11 (R392H +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165027	NM_001174089.2(SLC4A11):c.1216G>A (p.Ala406Thr)	SLC4A11 (A387T +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3165026	NM_001174089.2(SLC4A11):c.1142A>G (p.Asn381Ser)	SLC4A11 (N381S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2287134	NM_001174089.2(SLC4A11):c.1126G>A (p.Ala376Thr)	SLC4A11 (A357T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2522965	NM_001174089.2(SLC4A11):c.1105G>A (p.Ala369Thr)	SLC4A11 (A350T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2469259	NM_001174089.2(SLC4A11):c.1093T>C (p.Phe365Leu)	SLC4A11 (F365L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165024	NM_001174089.2(SLC4A11):c.1073A>G (p.Lys358Arg)	SLC4A11 (K358R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 805460	NM_001174089.2(SLC4A11):c.1049T>C (p.Ile350Thr)	SLC4A11 (I350T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2247502	NM_001174089.2(SLC4A11):c.1021T>A (p.Tyr341Asn)	SLC4A11 (Y357N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2311246	NM_001174089.2(SLC4A11):c.1011G>C (p.Arg337Ser)	SLC4A11 (R380S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2275941	NM_001174089.2(SLC4A11):c.978T>A (p.Phe326Leu)	SLC4A11 (F369L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2244921	NM_001174089.2(SLC4A11):c.956A>T (p.Lys319Met)	SLC4A11 (K300M +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2068199	NM_001174089.2(SLC4A11):c.916A>G (p.Thr306Ala)	SLC4A11 (T287A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3165037	NM_001174089.2(SLC4A11):c.910C>T (p.Arg304Cys)	SLC4A11 (R320C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1410720	NM_001174089.2(SLC4A11):c.902C>T (p.Thr301Met)	SLC4A11 (T344M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2513473	NM_001174089.2(SLC4A11):c.896C>T (p.Pro299Leu)	SLC4A11 (P299L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1444847	NM_001174089.2(SLC4A11):c.817C>T (p.Arg273Cys)	SLC4A11 (R289C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2367306	NM_001174089.2(SLC4A11):c.782C>T (p.Ser261Leu)	SLC4A11 (S242L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1333245	NM_001174089.2(SLC4A11):c.746C>T (p.Ala249Val)	SLC4A11 (A249V +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital hereditary endothelial dystrophy of cornea +1 more	GUncertain significance
Select item 2536661	NM_001174089.2(SLC4A11):c.671G>T (p.Trp224Leu)	SLC4A11 (W224L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2155523	NM_001174089.2(SLC4A11):c.659G>A (p.Arg220His)	SLC4A11 (R201H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2616237	NM_001174089.2(SLC4A11):c.636C>G (p.His212Gln)	SLC4A11 (H212Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165036	NM_001174089.2(SLC4A11):c.635A>C (p.His212Pro)	SLC4A11 (H212P +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 338254	NM_001174089.2(SLC4A11):c.631C>T (p.Arg211Trp)	SLC4A11 (R211W +2 more)	Single nucleotide variant (missense variant +1 more)	Corneal dystrophy +1 more	GUncertain significance
Select item 3165034	NM_001174089.2(SLC4A11):c.434G>A (p.Arg145Lys)	SLC4A11 (R145K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165033	NM_001174089.2(SLC4A11):c.400A>G (p.Asn134Asp)	SLC4A11 (N134D +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2340317	NM_001174089.2(SLC4A11):c.383C>T (p.Thr128Met)	SLC4A11 (T128M +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 895195	NM_001174089.2(SLC4A11):c.370G>A (p.Val124Ile)	SLC4A11 (V140I +2 more)	Single nucleotide variant (missense variant +1 more)	Corneal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 2152546	NM_001174089.2(SLC4A11):c.361G>T (p.Ala121Ser)	SLC4A11 (A102S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2464278	NM_001174089.2(SLC4A11):c.287G>A (p.Arg96Gln)	SLC4A11 (R139Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165032	NM_001174089.2(SLC4A11):c.232A>G (p.Thr78Ala)	SLC4A11 (T59A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 896609	NM_001174089.2(SLC4A11):c.209A>G (p.Asn70Ser)	SLC4A11 (N70S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 338261	NM_001174089.2(SLC4A11):c.89G>T (p.Ser30Ile)	SLC4A11 (S30I +2 more)	Single nucleotide variant (missense variant +1 more)	Corneal dystrophy +1 more	GUncertain significance
Select item 338262	NM_001174089.2(SLC4A11):c.44-7C>T	SLC4A11 (L29F)	Single nucleotide variant (missense variant +1 more)	Corneal dystrophy +1 more	GUncertain significance
Select item 898234	NM_001174089.2(SLC4A11):c.44-24G>C	SLC4A11 (G23A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3165035	NM_001174089.2(SLC4A11):c.44-34C>T	SLC4A11 (H20Y)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance

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Items: 55