SLC4A1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 59586	GRCh38/hg38 17q21.31(chr17:43570878-44762377)x1	ADAM11, ASB16 +104 more	Copy number loss	See cases	GPathogenic
Select item 145615	GRCh38/hg38 17q21.31(chr17:43934167-44854025)x1	ADAM11, ASB16 +86 more	Copy number loss	See cases	GPathogenic
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 255901	NM_000342.4(SLC4A1):c.12_17del	SLC4A1	Deletion (3 prime UTR variant)	not specified	GLikely benign
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 2892542	NM_000342.4(SLC4A1):c.2735G>A (p.Ter912=)	SLC4A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2971991	NM_000342.4(SLC4A1):c.2730T>C (p.Pro910=)	SLC4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 971626	NM_000342.4(SLC4A1):c.2726T>C (p.Met909Thr)	SLC4A1 (M909T)	Single nucleotide variant (missense variant)	BLOOD GROUP--SWANN SYSTEM +11 more	GLikely pathogenic
Select item 2436044	NM_000342.4(SLC4A1):c.2718del (p.Val907fs)	SLC4A1 (V907fs)	Deletion (frameshift 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 2090010	NM_000342.4(SLC4A1):c.2717A>T (p.Glu906Val)	SLC4A1 (E906V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1275803	NM_000342.4(SLC4A1):c.2716G>T (p.Glu906Ter)	SLC4A1 (E906*)	Single nucleotide variant (nonsense)	not provided +11 more	GLikely pathogenic
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 860327	NM_000342.4(SLC4A1):c.2716G>A (p.Glu906Lys)	SLC4A1 (E906K)	Single nucleotide variant (missense 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	GUncertain significance
Select item 1163101	NM_000342.4(SLC4A1):c.2713G>C (p.Asp905His)	SLC4A1 (D905H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 255913	NM_000342.4(SLC4A1):c.2712C>T (p.Tyr904=)	SLC4A1	Single nucleotide variant (synonymous variant)	BLOOD GROUP--DIEGO SYSTEM +13 more	GBenign/Likely benign
Select item 2436051	NM_000342.4(SLC4A1):c.2705del (p.Asp902fs)	SLC4A1 (D902fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1356463	NM_000342.4(SLC4A1):c.2702G>A (p.Arg901Gln)	SLC4A1 (R901Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1017727	NM_000342.4(SLC4A1):c.2702G>C (p.Arg901Pro)	SLC4A1 (R901P)	Single nucleotide variant (missense variant)	not provided +11 more	GUncertain significance
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 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 17777	NM_000342.4(SLC4A1):c.[2687_2699dup;2710_2718del]	SLC4A1	Duplication (nonsense +2 more)	Autosomal dominant distal renal tubular acidosis	GPathogenic
Select item 64422	NM_000342.4(SLC4A1):c.2694G>A (p.Glu898=)	SLC4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1339451	NM_000342.4(SLC4A1):c.2692G>T (p.Glu898Ter)	SLC4A1 (E898*)	Single nucleotide variant (nonsense)	Autosomal dominant distal renal tubular acidosis	GPathogenic
Select item 255912	NM_000342.4(SLC4A1):c.2688T>C (p.Asp896=)	SLC4A1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 2815953	NM_000342.4(SLC4A1):c.2659_2662dup (p.Ala888fs)	SLC4A1 (A888fs)	Duplication (frameshift variant)	not provided	GPathogenic
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 1343087	NM_000342.4(SLC4A1):c.2656C>A (p.Leu886Met)	SLC4A1 (L886M)	Single nucleotide variant (missense variant)	Autosomal dominant distal renal tubular acidosis +1 more	GConflicting classifications of pathogenicity
Select item 1990485	NM_000342.4(SLC4A1):c.2656-17C>G	SLC4A1	Single nucleotide variant (intron variant)	not provided	GBenign
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 2847171	NM_000342.4(SLC4A1):c.2641_2647del (p.Val881fs)	SLC4A1 (V881fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2839181	NM_000342.4(SLC4A1):c.2644G>T (p.Glu882Ter)	SLC4A1 (E882*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2592009	NM_000342.4(SLC4A1):c.2641G>A (p.Val881Met)	SLC4A1 (V881M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 988235	NM_000342.4(SLC4A1):c.2614G>A (p.Val872Ile)	SLC4A1 (V872I)	Single nucleotide variant (missense variant)	Southeast Asian ovalocytosis +10 more	GUncertain significance
Select item 452023	NM_000342.4(SLC4A1):c.2612G>A (p.Arg871His)	SLC4A1 (R871H)	Single nucleotide variant (missense variant)	Southeast Asian ovalocytosis +11 more	GUncertain significance
Select item 2792649	NM_000342.4(SLC4A1):c.2611C>T (p.Arg871Cys)	SLC4A1 (R871C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1916116	NM_000342.4(SLC4A1):c.2604G>A (p.Pro868=)	SLC4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2789900	NM_000342.4(SLC4A1):c.2589C>T (p.Leu863=)	SLC4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 specified +4 more	GBenign
Select item 17771	NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp)	SLC4A1 (A858D)	Single nucleotide variant (missense variant)	BLOOD GROUP--WRIGHT ANTIGEN +11 more	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

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