"Illumina Laboratory Services, Illumina"[submitter] AND "SLC4A1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 891262	NM_000342.4(SLC4A1):c.*1933G>A	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant distal renal tubular acidosis +2 more	GBenign/Likely benign
Select item 323474	NM_000342.4(SLC4A1):c.*1832G>A	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 4 +2 more	GUncertain significance
Select item 891263	NM_000342.4(SLC4A1):c.*1792G>A	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 4 +2 more	GBenign/Likely benign
Select item 892457	NM_000342.4(SLC4A1):c.*1791C>T	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant distal renal tubular acidosis +2 more	GUncertain significance
Select item 892458	NM_000342.4(SLC4A1):c.*1766C>T	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant distal renal tubular acidosis +2 more	GUncertain significance
Select item 323475	NM_000342.4(SLC4A1):c.*1721G>A	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 4 +2 more	GBenign
Select item 889077	NM_000342.4(SLC4A1):c.*1693G>A	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant distal renal tubular acidosis +2 more	GUncertain significance
Select item 323476	NM_000342.4(SLC4A1):c.*1676A>G	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Hemolytic anemia +2 more	GUncertain significance
Select item 889776	NM_000342.4(SLC4A1):c.*1609C>T	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 4 +2 more	GUncertain significance
Select item 323478	NM_000342.4(SLC4A1):c.1606_1608dup	SLC4A1	Duplication (3 prime UTR variant)	Hemolytic anemia +2 more	GUncertain significance
Select item 323477	NM_000342.4(SLC4A1):c.*1608dup	SLC4A1	Duplication (3 prime UTR variant)	Hemolytic anemia +2 more	GUncertain significance
Select item 323479	NM_000342.4(SLC4A1):c.*1608del	SLC4A1	Deletion (3 prime UTR variant)	Hemolytic anemia +2 more	GUncertain significance
Select item 323480	NM_000342.4(SLC4A1):c.*1596A>C	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Hemolytic anemia +2 more	GUncertain significance
Select item 323481	NM_000342.4(SLC4A1):c.*1568G>A	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Hemolytic anemia +2 more	GBenign
Select item 891314	NM_000342.4(SLC4A1):c.*1409T>C	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 4 +2 more	GUncertain significance
Select item 891315	NM_000342.4(SLC4A1):c.*1393A>T	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 4 +2 more	GConflicting classifications of pathogenicity
Select item 323482	NM_000342.4(SLC4A1):c.*1316C>T	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 4 +2 more	GUncertain significance
Select item 892510	NM_000342.4(SLC4A1):c.*1305G>A	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant distal renal tubular acidosis +2 more	GUncertain significance
Select item 323484	NM_000342.4(SLC4A1):c.*1273G>T	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 4 +2 more	GUncertain significance
Select item 323483	NM_000342.4(SLC4A1):c.*1273del	SLC4A1	Deletion (3 prime UTR variant)	Hemolytic anemia +2 more	GUncertain significance
Select item 323485	NM_000342.4(SLC4A1):c.*1237C>T	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Hemolytic anemia +2 more	GBenign/Likely benign
Select item 323486	NM_000342.4(SLC4A1):c.*1227A>C	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant distal renal tubular acidosis +2 more	GBenign/Likely benign
Select item 323487	NM_000342.4(SLC4A1):c.*1198A>T	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 4 +2 more	GUncertain significance
Select item 323488	NM_000342.4(SLC4A1):c.*1103del	SLC4A1	Deletion (3 prime UTR variant)	Hemolytic anemia +2 more	GLikely benign
Select item 889828	NM_000342.4(SLC4A1):c.*1047T>C	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 4 +2 more	GUncertain significance
Select item 889829	NM_000342.4(SLC4A1):c.*1032C>T	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 4 +2 more	GUncertain significance
Select item 891378	NM_000342.4(SLC4A1):c.*984T>G	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant distal renal tubular acidosis +2 more	GUncertain significance
Select item 323489	NM_000342.4(SLC4A1):c.*977G>A	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Hemolytic anemia +2 more	GUncertain significance
Select item 323490	NM_000342.4(SLC4A1):c.*947C>G	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Hemolytic anemia +2 more	GBenign/Likely benign
Select item 891629	NM_000342.4(SLC4A1):c.*936G>T	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant distal renal tubular acidosis +2 more	GUncertain significance
Select item 323491	NM_000342.4(SLC4A1):c.*897G>A	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 4 +2 more	GBenign
Select item 323492	NM_000342.4(SLC4A1):c.*872G>C	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 4 +2 more	GUncertain significance
Select item 323493	NM_000342.4(SLC4A1):c.*794del	SLC4A1	Deletion (3 prime UTR variant)	Distal Renal Tubular Acidosis, Dominant +2 more	GLikely benign
Select item 889211	NM_000342.4(SLC4A1):c.*753C>T	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant distal renal tubular acidosis +2 more	GUncertain significance
Select item 889212	NM_000342.4(SLC4A1):c.*745G>A	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant distal renal tubular acidosis +2 more	GUncertain significance
Select item 889892	NM_000342.4(SLC4A1):c.*701C>G	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 4 +2 more	GUncertain significance
Select item 889893	NM_000342.4(SLC4A1):c.*649G>A	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant distal renal tubular acidosis +2 more	GUncertain significance
Select item 891437	NM_000342.4(SLC4A1):c.*624G>A	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant distal renal tubular acidosis +2 more	GUncertain significance
Select item 891438	NM_000342.4(SLC4A1):c.*544C>T	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant distal renal tubular acidosis +2 more	GUncertain significance
Select item 891439	NM_000342.4(SLC4A1):c.*431T>C	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant distal renal tubular acidosis +2 more	GUncertain significance
Select item 323494	NM_000342.4(SLC4A1):c.*408C>T	SLC4A1	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 891697	NM_000342.4(SLC4A1):c.*356G>C	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant distal renal tubular acidosis +2 more	GUncertain significance
Select item 889271	NM_000342.4(SLC4A1):c.*353G>C	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant distal renal tubular acidosis +2 more	GUncertain significance
Select item 323495	NM_000342.4(SLC4A1):c.*351G>T	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant distal renal tubular acidosis +2 more	GConflicting classifications of pathogenicity
Select item 323496	NM_000342.4(SLC4A1):c.*349G>A	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 4 +3 more	GBenign
Select item 323497	NM_000342.4(SLC4A1):c.*335G>A	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Hemolytic anemia +2 more	GBenign
Select item 323498	NM_000342.4(SLC4A1):c.*333C>A	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 4 +3 more	GBenign
Select item 323499	NM_000342.4(SLC4A1):c.*270G>A	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant distal renal tubular acidosis +2 more	GBenign
Select item 891520	NM_000342.4(SLC4A1):c.*265A>C	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant distal renal tubular acidosis +2 more	GUncertain significance
Select item 323500	NM_000342.4(SLC4A1):c.*135G>A	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 4 +2 more	GBenign
Select item 891521	NM_000342.4(SLC4A1):c.*54A>G	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant distal renal tubular acidosis +11 more	GUncertain significance
Select item 891768	NM_000342.4(SLC4A1):c.*5C>T	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant distal renal tubular acidosis +2 more	GConflicting classifications of pathogenicity
Select item 891769	NM_000342.4(SLC4A1):c.2716G>C (p.Glu906Gln)	SLC4A1 (E906Q)	Single nucleotide variant (missense variant)	Autosomal dominant distal renal tubular acidosis +4 more	GConflicting classifications of pathogenicity
Select item 255913	NM_000342.4(SLC4A1):c.2712C>T (p.Tyr904=)	SLC4A1	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 4 +13 more	GBenign/Likely benign
Select item 64423	NM_000342.4(SLC4A1):c.2701C>T (p.Arg901Trp)	SLC4A1 (R901W)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 255912	NM_000342.4(SLC4A1):c.2688T>C (p.Asp896=)	SLC4A1	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 4 +4 more	GBenign
Select item 323501	NM_000342.4(SLC4A1):c.2630T>C (p.Ile877Thr)	SLC4A1 (I877T)	Single nucleotide variant (missense variant)	Hemolytic anemia +2 more	GConflicting classifications of pathogenicity
Select item 890020	NM_000342.4(SLC4A1):c.2625G>A (p.Pro875=)	SLC4A1	Single nucleotide variant (synonymous variant)	Autosomal dominant distal renal tubular acidosis +3 more	GConflicting classifications of pathogenicity
Select item 17783	NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu)	SLC4A1 (P868L)	Single nucleotide variant (missense variant)	Autosomal dominant distal renal tubular acidosis +5 more	GConflicting classifications of pathogenicity
Select item 891577	NM_000342.4(SLC4A1):c.2586C>A (p.Val862=)	SLC4A1	Single nucleotide variant (synonymous variant)	Autosomal dominant distal renal tubular acidosis +2 more	GUncertain significance
Select item 255911	NM_000342.4(SLC4A1):c.2584G>A (p.Val862Ile)	SLC4A1 (V862I)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 17768	NM_000342.4(SLC4A1):c.2561C>T (p.Pro854Leu)	SLC4A1 (P854L)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 4 +4 more	GBenign/Likely benign
Select item 891836	NM_000342.4(SLC4A1):c.2547G>A (p.Val849=)	SLC4A1	Single nucleotide variant (synonymous variant)	Autosomal dominant distal renal tubular acidosis +3 more	GConflicting classifications of pathogenicity
Select item 323502	NM_000342.4(SLC4A1):c.2482-9C>T	SLC4A1	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 4 +2 more	GUncertain significance
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 323503	NM_000342.4(SLC4A1):c.2243G>A (p.Gly748Glu)	SLC4A1 (G748E)	Single nucleotide variant (missense variant)	Autosomal dominant distal renal tubular acidosis +11 more	GUncertain significance
Select item 323504	NM_000342.4(SLC4A1):c.2210C>T (p.Ala737Val)	SLC4A1 (A737V)	Single nucleotide variant (missense variant)	Spherocytosis, Dominant +3 more	GConflicting classifications of pathogenicity
Select item 323505	NM_000342.4(SLC4A1):c.2208C>T (p.Asn736=)	SLC4A1	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 4 +3 more	GConflicting classifications of pathogenicity
Select item 737923	NM_000342.4(SLC4A1):c.2193C>T (p.Ser731=)	SLC4A1	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 715085	NM_000342.4(SLC4A1):c.2100C>T (p.Ser700=)	SLC4A1	Single nucleotide variant (synonymous variant)	Autosomal dominant distal renal tubular acidosis +3 more	GBenign/Likely benign
Select item 890658	NM_000342.4(SLC4A1):c.2019G>A (p.Leu673=)	SLC4A1	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 4 +2 more	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 890659	NM_000342.4(SLC4A1):c.1971C>T (p.Ser657=)	SLC4A1	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 4 +2 more	GConflicting classifications of pathogenicity
Select item 255909	NM_000342.4(SLC4A1):c.1953C>T (p.His651=)	SLC4A1	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 4 +4 more	GBenign
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 889445	NM_000342.4(SLC4A1):c.1928C>T (p.Ser643Phe)	SLC4A1 (S643F)	Single nucleotide variant (missense variant)	Autosomal dominant distal renal tubular acidosis +2 more	GConflicting classifications of pathogenicity
Select item 323506	NM_000342.4(SLC4A1):c.1878T>C (p.Asp626=)	SLC4A1	Single nucleotide variant (synonymous variant)	Autosomal dominant distal renal tubular acidosis +3 more	GBenign/Likely benign
Select item 255907	NM_000342.4(SLC4A1):c.1770G>A (p.Lys590=)	SLC4A1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 890131	NM_000342.4(SLC4A1):c.1671G>A (p.Val557=)	SLC4A1	Single nucleotide variant (synonymous variant)	Autosomal dominant distal renal tubular acidosis +4 more	GConflicting classifications of pathogenicity
Select item 323507	NM_000342.4(SLC4A1):c.1637A>G (p.Asp546Gly)	SLC4A1 (D546G)	Single nucleotide variant (missense variant)	Hemolytic anemia +2 more	GUncertain significance
Select item 890132	NM_000342.4(SLC4A1):c.1626+7G>A	SLC4A1	Single nucleotide variant (intron variant)	Autosomal dominant distal renal tubular acidosis +2 more	GUncertain significance
Select item 890133	NM_000342.4(SLC4A1):c.1471G>A (p.Val491Met)	SLC4A1 (V491M)	Single nucleotide variant (missense variant)	Autosomal dominant distal renal tubular acidosis +11 more	GUncertain significance
Select item 323508	NM_000342.4(SLC4A1):c.1431+15G>T	SLC4A1	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 4 +2 more	GUncertain significance
Select item 323509	NM_000342.4(SLC4A1):c.1431+13T>G	SLC4A1	Single nucleotide variant (intron variant)	Hemolytic anemia +2 more	GUncertain significance
Select item 255905	NM_000342.4(SLC4A1):c.1323G>A (p.Leu441=)	SLC4A1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 323510	NM_000342.4(SLC4A1):c.1314G>A (p.Ser438=)	SLC4A1	Single nucleotide variant (synonymous variant)	Autosomal dominant distal renal tubular acidosis +3 more	GBenign
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 255904	NM_000342.4(SLC4A1):c.1249C>T (p.Leu417=)	SLC4A1	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 4 +4 more	GBenign
Select item 730916	NM_000342.4(SLC4A1):c.1239C>T (p.Tyr413=)	SLC4A1	Single nucleotide variant (synonymous variant)	Autosomal dominant distal renal tubular acidosis +3 more	GBenign
Select item 323511	NM_000342.4(SLC4A1):c.1225G>A (p.Val409Ile)	SLC4A1 (V409I)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 4 +2 more	GUncertain significance
Select item 889517	NM_000342.4(SLC4A1):c.1202T>G (p.Phe401Cys)	SLC4A1 (F401C)	Single nucleotide variant (missense variant)	Autosomal dominant distal renal tubular acidosis +2 more	GUncertain significance
Select item 890177	NM_000342.4(SLC4A1):c.1179C>T (p.Tyr393=)	SLC4A1	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 4 +2 more	GUncertain significance
Select item 890178	NM_000342.4(SLC4A1):c.1151G>A (p.Arg384His)	SLC4A1 (R384H)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 4 +3 more	GConflicting classifications of pathogenicity
Select item 255915	NM_000342.4(SLC4A1):c.924G>A (p.Leu308=)	SLC4A1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 323512	NM_000342.4(SLC4A1):c.884G>A (p.Arg295His)	SLC4A1 (R295H)	Single nucleotide variant (missense variant)	Autosomal dominant distal renal tubular acidosis +3 more	GBenign/Likely benign
Select item 323513	NM_000342.4(SLC4A1):c.876+14G>A	SLC4A1	Single nucleotide variant (intron variant)	Hemolytic anemia +3 more	GConflicting classifications of pathogenicity
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 715536	NM_000342.4(SLC4A1):c.798T>C (p.Phe266=)	SLC4A1	Single nucleotide variant (synonymous variant)	not provided +12 more	GBenign/Likely benign
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 889578	NM_000342.4(SLC4A1):c.719C>T (p.Pro240Leu)	SLC4A1 (P240L)	Single nucleotide variant (missense variant)	Autosomal dominant distal renal tubular acidosis +2 more	GConflicting classifications of pathogenicity

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