"PreventionGenetics, part of Exact Sciences"[submitter] AND "SLC4A1"[g - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 255901	NM_000342.4(SLC4A1):c.12_17del	SLC4A1	Deletion (3 prime UTR variant)	not specified	GLikely benign
Select item 255913	NM_000342.4(SLC4A1):c.2712C>T (p.Tyr904=)	SLC4A1	Single nucleotide variant (synonymous variant)	not provided +13 more	GBenign/Likely benign
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 17783	NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu)	SLC4A1 (P868L)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 255911	NM_000342.4(SLC4A1):c.2584G>A (p.Val862Ile)	SLC4A1 (V862I)	Single nucleotide variant (missense variant)	Autosomal dominant distal renal tubular acidosis +4 more	GBenign
Select item 17768	NM_000342.4(SLC4A1):c.2561C>T (p.Pro854Leu)	SLC4A1 (P854L)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 760851	NM_000342.4(SLC4A1):c.2482-7C>T	SLC4A1	Single nucleotide variant (intron variant)	Southeast Asian ovalocytosis +12 more	GBenign/Likely benign
Select item 2632541	NM_000342.4(SLC4A1):c.2351C>G (p.Pro784Arg)	SLC4A1 (P784R)	Single nucleotide variant (missense variant)	SLC4A1-related disorder	GUncertain significance
Select item 811350	NM_000342.4(SLC4A1):c.2340G>A (p.Leu780=)	SLC4A1	Single nucleotide variant (synonymous variant)	not specified +13 more	GBenign/Likely benign
Select item 255910	NM_000342.4(SLC4A1):c.2311+19G>A	SLC4A1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 737923	NM_000342.4(SLC4A1):c.2193C>T (p.Ser731=)	SLC4A1	Single nucleotide variant (synonymous variant)	Autosomal dominant distal renal tubular acidosis +4 more	GConflicting classifications of pathogenicity
Select item 17767	NM_000342.4(SLC4A1):c.2102G>A (p.Gly701Asp)	SLC4A1 (G701D)	Single nucleotide variant (missense variant)	not provided +12 more	GPathogenic
Select item 255909	NM_000342.4(SLC4A1):c.1953C>T (p.His651=)	SLC4A1	Single nucleotide variant (synonymous variant)	Autosomal dominant distal renal tubular acidosis +4 more	GBenign
Select item 2634956	NM_000342.4(SLC4A1):c.1804C>T (p.Arg602Cys)	SLC4A1 (R602C)	Single nucleotide variant (missense variant)	SLC4A1-related disorder	GUncertain significance
Select item 1685443	NM_000342.4(SLC4A1):c.1801-2A>G	SLC4A1	Single nucleotide variant (splice acceptor variant)	SLC4A1-related disorder +1 more	GLikely pathogenic
Select item 255908	NM_000342.4(SLC4A1):c.1800+12C>T	SLC4A1	Single nucleotide variant (intron variant)	BLOOD GROUP--DIEGO SYSTEM +12 more	GBenign/Likely benign
Select item 255907	NM_000342.4(SLC4A1):c.1770G>A (p.Lys590=)	SLC4A1	Single nucleotide variant (synonymous variant)	Autosomal dominant distal renal tubular acidosis +4 more	GBenign/Likely benign
Select item 17763	NM_000342.4(SLC4A1):c.1766G>A (p.Arg589His)	SLC4A1 (R589H)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 2632109	NM_000342.4(SLC4A1):c.1738G>A (p.Gly580Ser)	SLC4A1 (G580S)	Single nucleotide variant (missense variant)	SLC4A1-related disorder	GUncertain significance
Select item 760852	NM_000342.4(SLC4A1):c.1692G>A (p.Gln564=)	SLC4A1	Single nucleotide variant (synonymous variant)	SLC4A1-related disorder +1 more	GBenign/Likely benign
Select item 890131	NM_000342.4(SLC4A1):c.1671G>A (p.Val557=)	SLC4A1	Single nucleotide variant (synonymous variant)	SLC4A1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 3044258	NM_000342.4(SLC4A1):c.1596_1605delinsT (p.Ile533_Glu535del)	SLC4A1	Indel (inframe deletion)	SLC4A1-related disorder	GLikely pathogenic
Select item 255905	NM_000342.4(SLC4A1):c.1323G>A (p.Leu441=)	SLC4A1	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 4 +4 more	GBenign
Select item 255904	NM_000342.4(SLC4A1):c.1249C>T (p.Leu417=)	SLC4A1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 2630255	NM_000342.4(SLC4A1):c.1228del (p.Ile410fs)	SLC4A1 (I410fs)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 2633538	NM_000342.4(SLC4A1):c.1187A>T (p.Asp396Val)	SLC4A1 (D396V)	Single nucleotide variant (missense variant)	SLC4A1-related disorder	GUncertain significance
Select item 255915	NM_000342.4(SLC4A1):c.924G>A (p.Leu308=)	SLC4A1	Single nucleotide variant (synonymous variant)	Autosomal dominant distal renal tubular acidosis +4 more	GBenign
Select item 1499211	NM_000342.4(SLC4A1):c.877-3dup	SLC4A1	Duplication (intron variant)	Southeast Asian ovalocytosis +12 more	GConflicting classifications of pathogenicity
Select item 3028987	NM_000342.4(SLC4A1):c.765G>A (p.Ala255=)	SLC4A1	Single nucleotide variant (synonymous variant)	SLC4A1-related disorder	GLikely benign
Select item 890798	NM_000342.4(SLC4A1):c.567C>G (p.Leu189=)	SLC4A1	Single nucleotide variant (synonymous variant)	SLC4A1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 255914	NM_000342.4(SLC4A1):c.539G>A (p.Arg180His)	SLC4A1 (R180H)	Single nucleotide variant (missense variant)	Autosomal dominant distal renal tubular acidosis +4 more	GConflicting classifications of pathogenicity
Select item 754324	NM_000342.4(SLC4A1):c.510G>A (p.Leu170=)	SLC4A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 739001	NM_000342.4(SLC4A1):c.297C>T (p.Leu99=)	SLC4A1	Single nucleotide variant (synonymous variant)	Cryohydrocytosis +12 more	GLikely benign
Select item 1107155	NM_000342.4(SLC4A1):c.279C>T (p.Ala93=)	SLC4A1	Single nucleotide variant (synonymous variant)	SLC4A1-related disorder +1 more	GLikely benign
Select item 3043755	NM_000342.4(SLC4A1):c.264G>A (p.Leu88=)	SLC4A1	Single nucleotide variant (synonymous variant)	SLC4A1-related disorder	GLikely benign
Select item 1162822	NM_000342.4(SLC4A1):c.233C>T (p.Ala78Val)	SLC4A1 (A78V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 323519	NM_000342.4(SLC4A1):c.202G>A (p.Glu68Lys)	SLC4A1 (E68K)	Single nucleotide variant (missense variant)	SLC4A1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 17752	NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu)	SLC4A1 (K56E)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 17756	NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys)	SLC4A1 (E40K)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 255903	NM_000342.4(SLC4A1):c.113A>C (p.Asp38Ala)	SLC4A1 (D38A)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 4 +4 more	GBenign
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)	not provided +12 more	GBenign/Likely benign
Select item 255902	NM_000342.4(SLC4A1):c.-3G>A	SLC4A1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 3059018	NM_000342.4(SLC4A1):c.-4C>T	SLC4A1	Single nucleotide variant (5 prime UTR variant)	SLC4A1-related disorder	GLikely benign
Select item 3031856	NM_000342.4(SLC4A1):c.-58T>C	SLC4A1	Single nucleotide variant (5 prime UTR variant)	SLC4A1-related disorder	GLikely benign
Select item 3031747	NM_000342.4(SLC4A1):c.-59G>C	SLC4A1	Single nucleotide variant (5 prime UTR variant)	SLC4A1-related disorder	GLikely benign
Select item 323522	NM_000342.4(SLC4A1):c.-60G>A	SLC4A1	Single nucleotide variant (5 prime UTR variant)	SLC4A1-related disorder +3 more	GBenign/Likely benign

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Items: 47