"Revvity Omics, Revvity"[submitter] AND "SLC4A1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2436044	NM_000342.4(SLC4A1):c.2718del (p.Val907fs)	SLC4A1 (V907fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2436060	NM_000342.4(SLC4A1):c.2713G>A (p.Asp905Asn)	SLC4A1 (D905N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2436051	NM_000342.4(SLC4A1):c.2705del (p.Asp902fs)	SLC4A1 (D902fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 64423	NM_000342.4(SLC4A1):c.2701C>T (p.Arg901Trp)	SLC4A1 (R901W)	Single nucleotide variant (missense variant)	Autosomal dominant distal renal tubular acidosis +3 more	GConflicting classifications of pathogenicity
Select item 2690014	NM_000342.4(SLC4A1):c.2659G>C (p.Asp887His)	SLC4A1 (D887H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704365	NM_000342.4(SLC4A1):c.2655+2_2655+3del	SLC4A1	Microsatellite (splice donor variant)	Hereditary spherocytosis type 4 +1 more	GConflicting classifications of pathogenicity
Select item 17776	NM_000342.3(SLC4A1):c.2608C>T (p.Arg870Trp)	SLC4A1 (R870W)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 17771	NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp)	SLC4A1 (A858D)	Single nucleotide variant (missense variant)	Autosomal dominant distal renal tubular acidosis +11 more	GPathogenic/Likely pathogenic
Select item 2433512	NM_000342.4(SLC4A1):c.2548del (p.Val849_Val850insTer)	SLC4A1	Deletion (nonsense)	not provided	GLikely pathogenic
Select item 1693702	NM_000342.4(SLC4A1):c.2520G>C (p.Gln840His)	SLC4A1 (Q840H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163102	NM_000342.4(SLC4A1):c.2510C>T (p.Thr837Met)	SLC4A1 (T837M)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 2436036	NM_000342.4(SLC4A1):c.2494C>T (p.Arg832Cys)	SLC4A1 (R832C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690707	NM_000342.4(SLC4A1):c.2481+1G>C	SLC4A1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2433474	NM_000342.4(SLC4A1):c.2481+1G>A	SLC4A1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2690018	NM_000342.4(SLC4A1):c.2450A>G (p.Lys817Arg)	SLC4A1 (K817R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 544809	NM_000342.4(SLC4A1):c.2423G>A (p.Arg808His)	SLC4A1 (R808H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1330507	NM_000342.4(SLC4A1):c.2422C>T (p.Arg808Cys)	SLC4A1 (R808C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 889392	NM_000342.4(SLC4A1):c.2401A>C (p.Ser801Arg)	SLC4A1 (S801R)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 4 +4 more	GConflicting classifications of pathogenicity
Select item 17780	NM_000342.3(SLC4A1):c.2279G>A (p.Arg760Gln)	SLC4A1 (R760Q)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 803425	NM_000342.4(SLC4A1):c.2278C>T (p.Arg760Trp)	SLC4A1 (R760W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2690017	NM_000342.4(SLC4A1):c.2276A>C (p.Gln759Pro)	SLC4A1 (Q759P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1973806	NM_000342.4(SLC4A1):c.2214_2217del (p.Thr739fs)	SLC4A1 (T739fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 1163105	NM_000342.4(SLC4A1):c.2188C>T (p.Arg730Cys)	SLC4A1 (R730C)	Single nucleotide variant (missense variant)	Autosomal dominant distal renal tubular acidosis +1 more	GConflicting classifications of pathogenicity
Select item 2436046	NM_000342.4(SLC4A1):c.2137G>C (p.Gly713Arg)	SLC4A1 (G713R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436037	NM_000342.4(SLC4A1):c.2135T>A (p.Met712Lys)	SLC4A1 (M712K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676955	NM_000342.4(SLC4A1):c.2116C>A (p.Leu706Met)	SLC4A1 (L706M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 17767	NM_000342.4(SLC4A1):c.2102G>A (p.Gly701Asp)	SLC4A1 (G701D)	Single nucleotide variant (missense variant)	Renal tubular acidosis, distal, 4, with hemolytic anemia +12 more	GPathogenic
Select item 1426253	NM_000342.4(SLC4A1):c.2057C>T (p.Thr686Met)	SLC4A1 (T686M)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 4 +11 more	GUncertain significance
Select item 2690715	NM_000342.4(SLC4A1):c.2026dup (p.Ile676fs)	SLC4A1 (I676fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1333541	NM_000342.4(SLC4A1):c.2002G>A (p.Ala668Thr)	SLC4A1 (A668T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2436055	NM_000342.4(SLC4A1):c.2000C>A (p.Ser667Tyr)	SLC4A1 (S667Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433508	NM_000342.4(SLC4A1):c.1987ATG[1] (p.Met664del)	SLC4A1 (M664del)	Microsatellite (inframe_deletion)	not provided	GConflicting classifications of pathogenicity
Select item 2690714	NM_000342.4(SLC4A1):c.1972_1979del (p.Glu658fs)	SLC4A1 (E658fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2436043	NM_000342.4(SLC4A1):c.1972G>C (p.Glu658Gln)	SLC4A1 (E658Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 17759	NM_000342.4(SLC4A1):c.1972G>A (p.Glu658Lys)	SLC4A1 (E658K)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2436057	NM_000342.4(SLC4A1):c.1969T>A (p.Ser657Thr)	SLC4A1 (S657T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433489	NM_000342.4(SLC4A1):c.1955del (p.Pro652fs)	SLC4A1 (P652fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2690021	NM_000342.4(SLC4A1):c.1954C>T (p.Pro652Ser)	SLC4A1 (P652S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 17782	NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln)	SLC4A1 (R646Q)	Single nucleotide variant (missense variant)	Autosomal dominant distal renal tubular acidosis +4 more	GConflicting classifications of pathogenicity
Select item 2690711	NM_000342.4(SLC4A1):c.1916del (p.Lys639fs)	SLC4A1 (K639fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2433553	NM_000342.4(SLC4A1):c.1893dup (p.Leu632fs)	SLC4A1 (L632fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 623903	NM_000342.4(SLC4A1):c.1890+1G>A	SLC4A1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic/Likely pathogenic
Select item 2066949	NM_000342.4(SLC4A1):c.1742C>A (p.Thr581Asn)	SLC4A1 (T581N)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2433518	NM_000342.4(SLC4A1):c.1674dup (p.Met559fs)	SLC4A1 (M559fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2436038	NM_000342.4(SLC4A1):c.1668C>G (p.Asn556Lys)	SLC4A1 (N556K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690026	NM_000342.4(SLC4A1):c.1642C>A (p.Pro548Thr)	SLC4A1 (P548T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163108	NM_000342.4(SLC4A1):c.1626G>A (p.Lys542=)	SLC4A1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2690022	NM_000342.4(SLC4A1):c.1507_1512del (p.Leu503_Val504del)	SLC4A1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2436056	NM_000342.4(SLC4A1):c.1492A>C (p.Ile498Leu)	SLC4A1 (I498L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436047	NM_000342.4(SLC4A1):c.1480G>T (p.Gly494Cys)	SLC4A1 (G494C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433477	NM_000342.4(SLC4A1):c.1476G>A (p.Trp492Ter)	SLC4A1 (W492*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 811391	NM_000342.4(SLC4A1):c.1469G>A (p.Arg490His)	SLC4A1 (R490H)	Single nucleotide variant (missense variant)	not specified +1 more	GPathogenic
Select item 2436054	NM_000342.4(SLC4A1):c.1468C>G (p.Arg490Gly)	SLC4A1 (R490G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436039	NM_000342.4(SLC4A1):c.1451_1468del (p.Leu484_Gly489del)	SLC4A1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1162816	NM_000342.4(SLC4A1):c.1468C>T (p.Arg490Cys)	SLC4A1 (R490C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 17773	NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met)	SLC4A1 (V488M)	Single nucleotide variant (missense variant)	Autosomal dominant distal renal tubular acidosis +11 more	GPathogenic/Likely pathogenic
Select item 2690706	NM_000342.4(SLC4A1):c.1437C>A (p.Cys479Ter)	SLC4A1 (C479*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 995624	NM_000342.4(SLC4A1):c.1431+1G>A	SLC4A1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1330636	NM_000342.4(SLC4A1):c.1431G>A (p.Ser477=)	SLC4A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2436048	NM_000342.4(SLC4A1):c.1424TCT[1] (p.Phe476del)	SLC4A1 (F476del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2690708	NM_000342.4(SLC4A1):c.1422del (p.Phe475fs)	SLC4A1 (F475fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2436059	NM_000342.4(SLC4A1):c.1421C>A (p.Ala474Asp)	SLC4A1 (A474D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1330962	NM_000342.4(SLC4A1):c.1403T>G (p.Leu468Arg)	SLC4A1 (L468R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690712	NM_000342.4(SLC4A1):c.1353_1380del (p.Phe451fs)	SLC4A1 (F451fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 2436040	NM_000342.4(SLC4A1):c.1366G>A (p.Ala456Thr)	SLC4A1 (A456T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436034	NM_000342.4(SLC4A1):c.1357CTG[1] (p.Leu454del)	SLC4A1 (L454del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2391479	NM_000342.4(SLC4A1):c.1337T>C (p.Val446Ala)	SLC4A1 (V446A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1691099	NM_000342.4(SLC4A1):c.1331C>A (p.Thr444Asn)	SLC4A1 (T444N)	Single nucleotide variant (missense variant)	Renal tubular acidosis, distal, 4, with hemolytic anemia +2 more	GConflicting classifications of pathogenicity
Select item 2436058	NM_000342.4(SLC4A1):c.1313C>T (p.Ser438Leu)	SLC4A1 (S438L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433500	NM_000342.4(SLC4A1):c.1283-4_1284delinsG	SLC4A1	Indel (splice acceptor variant)	not provided	GLikely pathogenic
Select item 891954	NM_000342.4(SLC4A1):c.1258G>A (p.Ala420Thr)	SLC4A1 (A420T)	Single nucleotide variant (missense variant)	Autosomal dominant distal renal tubular acidosis +3 more	GConflicting classifications of pathogenicity
Select item 2630255	NM_000342.4(SLC4A1):c.1228del (p.Ile410fs)	SLC4A1 (I410fs)	Deletion (frameshift variant)	SLC4A1-related disorder +1 more	GLikely pathogenic
Select item 17753	NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del)	SLC4A1	Deletion (inframe_deletion)	Autosomal dominant distal renal tubular acidosis +11 more	GPathogenic/Likely pathogenic
Select item 2436041	NM_000342.4(SLC4A1):c.1204A>G (p.Ser402Gly)	SLC4A1 (S402G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1008971	NM_000342.4(SLC4A1):c.1181T>C (p.Leu394Pro)	SLC4A1 (L394P)	Single nucleotide variant (missense variant)	Southeast Asian ovalocytosis +11 more	GConflicting classifications of pathogenicity
Select item 2690019	NM_000342.4(SLC4A1):c.1177T>A (p.Tyr393Asn)	SLC4A1 (Y393N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 811881	NM_000342.4(SLC4A1):c.1162C>T (p.Arg388Cys)	SLC4A1 (R388C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2436049	NM_000342.4(SLC4A1):c.1159C>T (p.Arg387Trp)	SLC4A1 (R387W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436053	NM_000342.4(SLC4A1):c.1147G>C (p.Val383Leu)	SLC4A1 (V383L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690705	NM_000342.4(SLC4A1):c.1144_1145del (p.Leu382fs)	SLC4A1 (L382fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2436035	NM_000342.4(SLC4A1):c.1090T>G (p.Leu364Val)	SLC4A1 (L364V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436050	NM_000342.4(SLC4A1):c.1037G>T (p.Arg346Leu)	SLC4A1 (R346L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436045	NM_000342.4(SLC4A1):c.1036C>T (p.Arg346Cys)	SLC4A1 (R346C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 620131	NM_000342.4(SLC4A1):c.1030C>T (p.Arg344Ter)	SLC4A1 (R344*)	Single nucleotide variant (nonsense)	not provided +11 more	GPathogenic/Likely pathogenic
Select item 2433479	NM_000342.4(SLC4A1):c.1004_1007dup (p.Pro337fs)	SLC4A1 (P337fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 17755	NM_000342.3(SLC4A1):c.980C>G (p.Pro327Arg)	SLC4A1 (P327R)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 4 +1 more	GConflicting classifications of pathogenicity
Select item 2690023	NM_000342.4(SLC4A1):c.904C>G (p.Gln302Glu)	SLC4A1 (Q302E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690710	NM_000342.4(SLC4A1):c.891dup (p.Ala298fs)	SLC4A1 (A298fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1499211	NM_000342.4(SLC4A1):c.877-3dup	SLC4A1	Duplication (intron variant)	not provided +12 more	GConflicting classifications of pathogenicity
Select item 2690709	NM_000342.4(SLC4A1):c.866dup (p.Met289fs)	SLC4A1 (M289fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2690013	NM_000342.4(SLC4A1):c.866T>A (p.Met289Lys)	SLC4A1 (M289K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 891993	NM_000342.4(SLC4A1):c.826A>G (p.Ile276Val)	SLC4A1 (I276V)	Single nucleotide variant (missense variant)	Autosomal dominant distal renal tubular acidosis +3 more	GConflicting classifications of pathogenicity
Select item 2690016	NM_000342.4(SLC4A1):c.823C>A (p.His275Asn)	SLC4A1 (H275N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433551	NM_000342.4(SLC4A1):c.782_789dup (p.Phe264fs)	SLC4A1 (F264fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2433531	NM_000342.4(SLC4A1):c.778del (p.Val260fs)	SLC4A1 (V260fs)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 2690027	NM_000342.4(SLC4A1):c.772C>A (p.Leu258Met)	SLC4A1 (L258M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1162820	NM_000342.4(SLC4A1):c.769G>A (p.Glu257Lys)	SLC4A1 (E257K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433535	NM_000342.4(SLC4A1):c.754G>T (p.Glu252Ter)	SLC4A1 (E252*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 854724	NM_000342.4(SLC4A1):c.733G>A (p.Val245Met)	SLC4A1 (V245M)	Single nucleotide variant (missense variant)	Autosomal dominant distal renal tubular acidosis +3 more	GConflicting classifications of pathogenicity
Select item 1330900	NM_000342.4(SLC4A1):c.698G>A (p.Arg233His)	SLC4A1 (R233H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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