Related gene-specific medical variations for Gene (Select 6521) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359164	NM_000342.4(SLC4A1):c.2453A>G (p.Tyr818Cys)	SLC4A1 (Y818C)	Single nucleotide variant (missense variant)	Autosomal dominant distal renal tubular acidosis	GLikely pathogenic
Select item 3068152	NM_000342.4(SLC4A1):c.2492G>A (p.Trp831Ter)	SLC4A1 (W831*)	Single nucleotide variant (nonsense)	Cryohydrocytosis	GLikely pathogenic
Select item 3068136	NM_000342.4(SLC4A1):c.2115C>G (p.Asp705Glu)	SLC4A1 (D705E)	Single nucleotide variant (missense variant)	Cryohydrocytosis	GLikely pathogenic
Select item 2690715	NM_000342.4(SLC4A1):c.2026dup (p.Ile676fs)	SLC4A1 (I676fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2690714	NM_000342.4(SLC4A1):c.1972_1979del (p.Glu658fs)	SLC4A1 (E658fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2690713	NM_000342.4(SLC4A1):c.268del (p.Glu90fs)	SLC4A1 (E90fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2690711	NM_000342.4(SLC4A1):c.1916del (p.Lys639fs)	SLC4A1 (K639fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2690710	NM_000342.4(SLC4A1):c.891dup (p.Ala298fs)	SLC4A1 (A298fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2690709	NM_000342.4(SLC4A1):c.866dup (p.Met289fs)	SLC4A1 (M289fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2690708	NM_000342.4(SLC4A1):c.1422del (p.Phe475fs)	SLC4A1 (F475fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2690707	NM_000342.4(SLC4A1):c.2481+1G>C	SLC4A1	Single nucleotide variant (splice donor variant)	not provided	GLikely 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 2690705	NM_000342.4(SLC4A1):c.1144_1145del (p.Leu382fs)	SLC4A1 (L382fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2690704	NM_000342.4(SLC4A1):c.167del (p.Lys56fs)	SLC4A1 (K56fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2690493	NM_000342.4(SLC4A1):c.515dup (p.Val173fs)	SLC4A1 (V173fs)	Duplication (frameshift variant)	not provided	GPathogenic
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 2690026	NM_000342.4(SLC4A1):c.1642C>A (p.Pro548Thr)	SLC4A1 (P548T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690025	NM_000342.4(SLC4A1):c.547G>A (p.Asp183Asn)	SLC4A1 (D183N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690024	NM_000342.4(SLC4A1):c.217C>A (p.Leu73Met)	SLC4A1 (L73M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2690022	NM_000342.4(SLC4A1):c.1507_1512del (p.Leu503_Val504del)	SLC4A1	Deletion (inframe_deletion)	not provided	GUncertain significance
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 2690019	NM_000342.4(SLC4A1):c.1177T>A (p.Tyr393Asn)	SLC4A1 (Y393N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2690017	NM_000342.4(SLC4A1):c.2276A>C (p.Gln759Pro)	SLC4A1 (Q759P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2690014	NM_000342.4(SLC4A1):c.2659G>C (p.Asp887His)	SLC4A1 (D887H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2436059	NM_000342.4(SLC4A1):c.1421C>A (p.Ala474Asp)	SLC4A1 (A474D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2436057	NM_000342.4(SLC4A1):c.1969T>A (p.Ser657Thr)	SLC4A1 (S657T)	Single nucleotide variant (missense variant)	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 2436055	NM_000342.4(SLC4A1):c.2000C>A (p.Ser667Tyr)	SLC4A1 (S667Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2436053	NM_000342.4(SLC4A1):c.1147G>C (p.Val383Leu)	SLC4A1 (V383L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436052	NM_000342.4(SLC4A1):c.515G>T (p.Gly172Val)	SLC4A1 (G172V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436051	NM_000342.4(SLC4A1):c.2705del (p.Asp902fs)	SLC4A1 (D902fs)	Deletion (frameshift 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 2436049	NM_000342.4(SLC4A1):c.1159C>T (p.Arg387Trp)	SLC4A1 (R387W)	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 2436046	NM_000342.4(SLC4A1):c.2137G>C (p.Gly713Arg)	SLC4A1 (G713R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436044	NM_000342.4(SLC4A1):c.2718del (p.Val907fs)	SLC4A1 (V907fs)	Deletion (frameshift variant)	not provided	GUncertain significance
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 2436041	NM_000342.4(SLC4A1):c.1204A>G (p.Ser402Gly)	SLC4A1 (S402G)	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 2436038	NM_000342.4(SLC4A1):c.1668C>G (p.Asn556Lys)	SLC4A1 (N556K)	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 2436036	NM_000342.4(SLC4A1):c.2494C>T (p.Arg832Cys)	SLC4A1 (R832C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2436034	NM_000342.4(SLC4A1):c.1357CTG[1] (p.Leu454del)	SLC4A1 (L454del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2433559	NM_000342.4(SLC4A1):c.349+2T>C	SLC4A1	Single nucleotide variant (splice donor 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 2433551	NM_000342.4(SLC4A1):c.782_789dup (p.Phe264fs)	SLC4A1 (F264fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2433535	NM_000342.4(SLC4A1):c.754G>T (p.Glu252Ter)	SLC4A1 (E252*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2433518	NM_000342.4(SLC4A1):c.1674dup (p.Met559fs)	SLC4A1 (M559fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2433512	NM_000342.4(SLC4A1):c.2548del (p.Val849_Val850insTer)	SLC4A1	Deletion (nonsense)	not provided	GLikely pathogenic
Select item 2433500	NM_000342.4(SLC4A1):c.1283-4_1284delinsG	SLC4A1	Indel (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2433489	NM_000342.4(SLC4A1):c.1955del (p.Pro652fs)	SLC4A1 (P652fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2433483	NM_000342.4(SLC4A1):c.339del (p.Phe114fs)	SLC4A1 (F114fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2433479	NM_000342.4(SLC4A1):c.1004_1007dup (p.Pro337fs)	SLC4A1 (P337fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2433477	NM_000342.4(SLC4A1):c.1476G>A (p.Trp492Ter)	SLC4A1 (W492*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2433471	NM_000342.4(SLC4A1):c.349+1G>C	SLC4A1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2428727	NM_000342.4(SLC4A1):c.16-1G>A	SLC4A1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic/Likely pathogenic
Select item 2428694	NM_000342.4(SLC4A1):c.2570T>C (p.Leu857Pro)	SLC4A1 (L857P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428506	NM_000342.4(SLC4A1):c.1042C>G (p.Gln348Glu)	SLC4A1 (Q348E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1727009	NM_000342.4(SLC4A1):c.2710_2718del (p.Tyr904_Glu906del)	SLC4A1	Deletion (inframe_deletion)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1727008	NM_000342.4(SLC4A1):c.2687_2699dup (p.Gly900_Arg901insTer)	SLC4A1	Duplication (nonsense +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1679442	NM_000342.4(SLC4A1):c.2298C>A (p.Val766=)	SLC4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1679438	NM_000342.4(SLC4A1):c.1361T>G (p.Leu454Arg)	SLC4A1 (L454R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676961	NM_000342.4(SLC4A1):c.1267_1268insG (p.Phe423fs)	SLC4A1 (F423fs)	Insertion (frameshift variant)	Hereditary spherocytosis type 4	GPathogenic
Select item 1676959	NM_000342.4(SLC4A1):c.910C>T (p.Arg304Ter)	SLC4A1 (R304*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 4	GPathogenic
Select item 1676958	NM_000342.4(SLC4A1):c.2159G>T (p.Gly720Val)	SLC4A1 (G720V)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 4	GLikely pathogenic
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 1676953	NM_000342.4(SLC4A1):c.370C>T (p.Gln124Ter)	SLC4A1 (Q124*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 4	GPathogenic
Select item 1676952	NM_000342.4(SLC4A1):c.2165C>T (p.Pro722Leu)	SLC4A1 (P722L)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 4	GLikely pathogenic
Select item 1331054	NM_000342.4(SLC4A1):c.2501A>C (p.His834Pro)	SLC4A1 (H834P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 1330956	NM_000342.4(SLC4A1):c.490G>A (p.Ala164Thr)	SLC4A1 (A164T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1330900	NM_000342.4(SLC4A1):c.698G>A (p.Arg233His)	SLC4A1 (R233H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1330775	NM_000342.4(SLC4A1):c.765G>C (p.Ala255=)	SLC4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1330736	NM_000342.4(SLC4A1):c.2057+1G>C	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 1330569	NM_000342.4(SLC4A1):c.2508C>A (p.Phe836Leu)	SLC4A1 (F836L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1330539	NM_000342.4(SLC4A1):c.1059dup (p.Pro354fs)	SLC4A1 (P354fs)	Duplication (frameshift variant)	not provided	GPathogenic
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 1330440	NM_000342.4(SLC4A1):c.799del (p.Val267fs)	SLC4A1 (V267fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1275803	NM_000342.4(SLC4A1):c.2716G>T (p.Glu906Ter)	SLC4A1 (E906*)	Single nucleotide variant (nonsense)	Southeast Asian ovalocytosis +11 more	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 994270	NM_000342.4(SLC4A1):c.1117C>T (p.Gln373Ter)	SLC4A1 (Q373*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 994269	NM_000342.4(SLC4A1):c.1890G>T (p.Gln630His)	SLC4A1 (Q630H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 993791	NM_000342.4(SLC4A1):c.2111T>C (p.Leu704Pro)	SLC4A1 (L704P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 931021	NM_000342.4(SLC4A1):c.1153G>C (p.Asp385His)	SLC4A1 (D385H)	Single nucleotide variant (missense variant)	Cryohydrocytosis +1 more	GConflicting classifications of pathogenicity
Select item 811735	NM_000342.4(SLC4A1):c.243G>A (p.Trp81Ter)	SLC4A1 (W81*)	Single nucleotide variant (nonsense)	not specified	GPathogenic
Select item 811209	NM_000342.4(SLC4A1):c.1490T>C (p.Leu497Pro)	SLC4A1 (L497P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 591618	NM_000342.4(SLC4A1):c.2294T>C (p.Leu765Pro)	SLC4A1 (L765P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 585232	GRCh37/hg19 17q21.31(chr17:42326687-42340104)x3	SLC4A1	Copy number gain	not provided	Gnot provided
Select item 544808	NM_000342.4(SLC4A1):c.695-3C>A	SLC4A1	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 4	GLikely pathogenic
Select item 544807	NM_000342.4(SLC4A1):c.1322T>G (p.Leu441Arg)	SLC4A1 (L441R)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 4	GLikely pathogenic
Select item 544806	NM_000342.4(SLC4A1):c.486-2A>G	SLC4A1	Single nucleotide variant (splice acceptor variant)	Hereditary spherocytosis type 4	GPathogenic
Select item 544805	NM_000342.4(SLC4A1):c.1458C>G (p.Tyr486Ter)	SLC4A1 (Y486*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 4	GPathogenic

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