ClinVar for MedGen (Select 436375) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1705332	NM_000342.4(SLC4A1):c.2464del (p.Val822fs)	SLC4A1 (V822fs)	Deletion (frameshift variant)	Hereditary spherocytosis type 4	GLikely pathogenic
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 1691099	NM_000342.4(SLC4A1):c.1331C>A (p.Thr444Asn)	SLC4A1 (T444N)	Single nucleotide variant (missense variant)	Renal tubular acidosis, distal, 4, with hemolytic anemia +2 more	GConflicting classifications of pathogenicity
Select item 1676961	NM_000342.4(SLC4A1):c.1267_1268insG (p.Phe423fs)	SLC4A1 (F423fs)	Insertion (frameshift variant)	Hereditary spherocytosis type 4	GPathogenic
Select item 1676960	NM_000342.4(SLC4A1):c.1610dup (p.Ser538fs)	SLC4A1 (S538fs)	Duplication (frameshift variant)	not provided +1 more	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 1676956	NM_000342.4(SLC4A1):c.2369G>A (p.Gly790Asp)	SLC4A1 (G790D)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 4 +1 more	GConflicting classifications of pathogenicity
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 1676954	NM_000342.4(SLC4A1):c.331C>T (p.Arg111Cys)	SLC4A1 (R111C)	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 1667854	NM_000342.4(SLC4A1):c.1800+17C>T	SLC4A1	Single nucleotide variant (intron variant)	not provided +11 more	GLikely benign
Select item 1522836	NM_000342.4(SLC4A1):c.2204C>T (p.Ala735Val)	SLC4A1 (A735V)	Single nucleotide variant (missense variant)	not provided +11 more	GUncertain significance
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 1495044	NM_000342.4(SLC4A1):c.523C>A (p.Pro175Thr)	SLC4A1 (P175T)	Single nucleotide variant (missense variant)	Southeast Asian ovalocytosis +12 more	GConflicting classifications of pathogenicity
Select item 1484578	NM_000342.4(SLC4A1):c.464G>A (p.Arg155Gln)	SLC4A1 (R155Q)	Single nucleotide variant (missense variant)	not provided +11 more	GUncertain significance
Select item 1436736	NM_000342.4(SLC4A1):c.829G>A (p.Asp277Asn)	SLC4A1 (D277N)	Single nucleotide variant (missense variant)	not provided +11 more	GUncertain significance
Select item 1426253	NM_000342.4(SLC4A1):c.2057C>T (p.Thr686Met)	SLC4A1 (T686M)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 4 +11 more	GUncertain significance
Select item 1420205	NM_000342.4(SLC4A1):c.2344C>T (p.Arg782Cys)	SLC4A1 (R782C)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 4 +11 more	GConflicting classifications of pathogenicity
Select item 1390841	NM_000342.4(SLC4A1):c.2185G>A (p.Val729Met)	SLC4A1 (V729M)	Single nucleotide variant (missense variant)	not provided +12 more	GUncertain significance
Select item 1361360	NM_000342.4(SLC4A1):c.1331C>G (p.Thr444Ser)	SLC4A1 (T444S)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 4 +11 more	GUncertain significance
Select item 1352118	NM_000342.4(SLC4A1):c.283G>C (p.Gly95Arg)	SLC4A1 (G95R)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 4 +11 more	GUncertain significance
Select item 1330414	NM_000342.4(SLC4A1):c.486-18C>T	SLC4A1	Single nucleotide variant (intron variant)	Malaria, susceptibility to +11 more	GBenign/Likely benign
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 1162819	NM_000342.4(SLC4A1):c.985G>A (p.Glu329Lys)	SLC4A1 (E329K)	Single nucleotide variant (missense variant)	not provided +11 more	GUncertain significance
Select item 1162816	NM_000342.4(SLC4A1):c.1468C>T (p.Arg490Cys)	SLC4A1 (R490C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1150864	NM_000342.4(SLC4A1):c.1311G>A (p.Val437=)	SLC4A1	Single nucleotide variant (synonymous variant)	not provided +11 more	GLikely benign
Select item 1143663	NM_000342.4(SLC4A1):c.102G>A (p.Pro34=)	SLC4A1	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 4 +11 more	GLikely benign
Select item 1084799	NM_000342.4(SLC4A1):c.1272C>T (p.Gly424=)	SLC4A1	Single nucleotide variant (synonymous variant)	BLOOD GROUP--SWANN SYSTEM +11 more	GLikely benign
Select item 1081446	NM_000342.4(SLC4A1):c.876+8A>G	SLC4A1	Single nucleotide variant (intron variant)	BLOOD GROUP--SWANN SYSTEM +11 more	GLikely benign
Select item 1050262	NM_000342.4(SLC4A1):c.538C>T (p.Arg180Cys)	SLC4A1 (R180C)	Single nucleotide variant (missense variant)	not provided +11 more	GUncertain significance
Select item 1044950	NM_000342.4(SLC4A1):c.1160G>A (p.Arg387Gln)	SLC4A1 (R387Q)	Single nucleotide variant (missense variant)	not provided +12 more	GConflicting classifications of pathogenicity
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 1017222	NM_000342.4(SLC4A1):c.1759A>T (p.Met587Leu)	SLC4A1 (M587L)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 4 +12 more	GUncertain significance
Select item 1008971	NM_000342.4(SLC4A1):c.1181T>C (p.Leu394Pro)	SLC4A1 (L394P)	Single nucleotide variant (missense variant)	Southeast Asian ovalocytosis +11 more	GConflicting classifications of pathogenicity
Select item 994056	NM_000342.4(SLC4A1):c.2387G>C (p.Gly796Ala)	SLC4A1 (G796A)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 4 +11 more	GUncertain significance
Select item 992924	NM_000342.4(SLC4A1):c.1530C>G (p.Ser510Arg)	SLC4A1 (S510R)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 4	GUncertain significance
Select item 992923	NM_000342.4(SLC4A1):c.2312G>T (p.Gly771Val)	SLC4A1 (G771V)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 4	GLikely pathogenic
Select item 992922	NM_000342.4(SLC4A1):c.2269A>T (p.Lys757Ter)	SLC4A1 (K757*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 4	GPathogenic
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 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 942972	NM_000342.4(SLC4A1):c.454G>A (p.Glu152Lys)	SLC4A1 (E152K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +12 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 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 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 892040	NM_000342.4(SLC4A1):c.486-10C>T	SLC4A1	Single nucleotide variant (intron variant)	Autosomal dominant distal renal tubular acidosis +2 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 890797	NM_000342.4(SLC4A1):c.615T>C (p.Asp205=)	SLC4A1	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 4 +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 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 890328	NM_000342.4(SLC4A1):c.-59G>T	SLC4A1	Single nucleotide variant (5 prime UTR variant)	Hereditary spherocytosis type 4 +2 more	GUncertain significance
Select item 890276	NM_000342.4(SLC4A1):c.261C>A (p.Asn87Lys)	SLC4A1 (N87K)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 4 +2 more	GUncertain significance
Select item 890275	NM_000342.4(SLC4A1):c.319C>T (p.Leu107Phe)	SLC4A1 (L107F)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 4 +2 more	GUncertain significance
Select item 890231	NM_000342.4(SLC4A1):c.672A>G (p.Ser224=)	SLC4A1	Single nucleotide variant (synonymous variant)	Autosomal dominant distal renal tubular acidosis +3 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 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 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 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 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 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 889580	NM_000342.4(SLC4A1):c.697C>T (p.Arg233Cys)	SLC4A1 (R233C)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 4 +3 more	GUncertain significance
Select item 889579	NM_000342.4(SLC4A1):c.706T>G (p.Phe236Val)	SLC4A1 (F236V)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 4 +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
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 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 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 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 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 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 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 888575	NM_000342.4(SLC4A1):c.344C>T (p.Thr115Ile)	SLC4A1 (T115I)	Single nucleotide variant (missense variant)	Autosomal dominant distal renal tubular acidosis +2 more	GUncertain significance
Select item 888574	NM_000342.4(SLC4A1):c.349+15C>G	SLC4A1	Single nucleotide variant (intron variant)	Autosomal dominant distal renal tubular acidosis +3 more	GConflicting classifications of pathogenicity
Select item 854724	NM_000342.4(SLC4A1):c.733G>A (p.Val245Met)	SLC4A1 (V245M)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 4 +3 more	GConflicting classifications of pathogenicity
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 803425	NM_000342.4(SLC4A1):c.2278C>T (p.Arg760Trp)	SLC4A1 (R760W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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

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