"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "SLC4A1"[ge - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 17776	NM_000342.3(SLC4A1):c.2608C>T (p.Arg870Trp)	SLC4A1 (R870W)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
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 711357	NM_000342.4(SLC4A1):c.2184C>T (p.Thr728=)	SLC4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 546796	NM_000342.4(SLC4A1):c.2149G>A (p.Ala717Thr)	SLC4A1 (A717T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 17764	NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys)	SLC4A1 (R589C)	Single nucleotide variant (missense variant)	Renal tubular acidosis, distal, 4, with hemolytic anemia +11 more	GPathogenic/Likely pathogenic
Select item 546797	NM_000342.4(SLC4A1):c.1480G>A (p.Gly494Ser)	SLC4A1 (G494S)	Single nucleotide variant (missense variant)	not provided +11 more	GUncertain significance
Select item 1694845	NM_000342.4(SLC4A1):c.1428_1430del (p.Phe476_Ser477delinsLeu)	SLC4A1	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 2647827	NM_000342.4(SLC4A1):c.1242T>C (p.Phe414=)	SLC4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647828	NM_000342.4(SLC4A1):c.1224C>T (p.Ala408=)	SLC4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647829	NM_000342.4(SLC4A1):c.1172C>T (p.Pro391Leu)	SLC4A1 (P391L)	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 3067442	NM_000342.4(SLC4A1):c.853G>T (p.Ala285Ser)	SLC4A1 (A285S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 890797	NM_000342.4(SLC4A1):c.615T>C (p.Asp205=)	SLC4A1	Single nucleotide variant (synonymous variant)	Hemolytic anemia +3 more	GConflicting classifications of pathogenicity
Select item 2647830	NM_000342.4(SLC4A1):c.277G>A (p.Ala93Thr)	SLC4A1 (A93T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 323518	NM_000342.4(SLC4A1):c.216G>T (p.Glu72Asp)	SLC4A1 (E72D)	Single nucleotide variant (missense variant)	Hemolytic anemia +12 more	GBenign/Likely benign
Select item 1711439	NM_000342.4(SLC4A1):c.168+1G>A	SLC4A1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 17756	NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys)	SLC4A1 (E40K)	Single nucleotide variant (missense variant)	Hemolytic anemia +5 more	GConflicting classifications of pathogenicity
Select item 255906	NM_000342.4(SLC4A1):c.16-14G>A	SLC4A1	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 4 +4 more	GBenign/Likely benign
Select item 780428	NM_000342.4(SLC4A1):c.12G>A (p.Leu4=)	SLC4A1	Single nucleotide variant (synonymous variant)	SLC4A1-related condition +12 more	GBenign/Likely benign

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Items: 21