ClinVar for MedGen (Select 1916) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2505371	NM_001142864.4(PIEZO1):c.3198T>A (p.Asp1066Glu)	PIEZO1 (D1066E +1 more)	Single nucleotide variant (missense variant)	Hemolytic anemia	GUncertain significance
Select item 2439067	NM_000037.4(ANK1):c.5372A>T (p.Asn1791Ile)	ANK1 (N1629I +2 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1 +1 more	GUncertain significance
Select item 1676780	NM_001142864.4(PIEZO1):c.7380C>G (p.Ser2460Arg)	PIEZO1 (S2460R)	Single nucleotide variant (missense variant)	PIEZO1-related condition +1 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)	Autosomal dominant distal renal tubular acidosis +4 more	GConflicting classifications of pathogenicity
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 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)	Autosomal dominant distal renal tubular acidosis +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)	Autosomal dominant distal renal tubular acidosis +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)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 812891	NM_003126.4(SPTA1):c.2353C>T (p.Arg785Ter)	SPTA1 (R785*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 812889	NM_003126.4(SPTA1):c.4177C>T (p.Gln1393Ter)	SPTA1 (Q1393*)	Single nucleotide variant (nonsense)	Hemolytic anemia	GLikely pathogenic
Select item 812888	NM_000298.6(PKLR):c.1291G>A (p.Ala431Thr)	PKLR (A400T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 811712	NM_000175.5(GPI):c.572A>G (p.His191Arg)	GPI (H163R +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glucophosphate isomerase deficiency	GUncertain significance
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 730916	NM_000342.4(SLC4A1):c.1239C>T (p.Tyr413=)	SLC4A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 729287	NM_000342.4(SLC4A1):c.92T>C (p.Met31Thr)	SLC4A1 (M31T)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
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 715085	NM_000342.4(SLC4A1):c.2100C>T (p.Ser700=)	SLC4A1	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 4 +3 more	GBenign/Likely benign
Select item 523359	NM_001355436.2(SPTB):c.5794_5798+6del	SPTB	Deletion (splice donor variant)	Hemolytic anemia	GPathogenic
Select item 374205	NM_001360016.2(G6PD):c.1096A>G (p.Lys366Glu)	G6PD (K366E +1 more)	Single nucleotide variant (missense variant)	Hemolytic anemia +2 more	GUncertain significance
Select item 323525	NM_000342.4(SLC4A1):c.-136C>T	SLC4A1	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 323524	NM_000342.4(SLC4A1):c.-135G>A	SLC4A1	Single nucleotide variant (5 prime UTR variant)	Hemolytic anemia +2 more	GBenign/Likely benign
Select item 323523	NM_000342.4(SLC4A1):c.-65C>A	SLC4A1	Single nucleotide variant (5 prime UTR variant)	Hemolytic anemia +2 more	GUncertain significance
Select item 323522	NM_000342.4(SLC4A1):c.-60G>A	SLC4A1	Single nucleotide variant (5 prime UTR variant)	Hereditary spherocytosis type 4 +3 more	GBenign/Likely benign
Select item 323521	NM_000342.4(SLC4A1):c.-30C>T	SLC4A1	Single nucleotide variant (5 prime UTR variant)	Hereditary spherocytosis type 4 +2 more	GBenign/Likely benign
Select item 323520	NM_000342.4(SLC4A1):c.173A>G (p.Tyr58Cys)	SLC4A1 (Y58C)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 4 +3 more	GConflicting classifications of pathogenicity
Select item 323519	NM_000342.4(SLC4A1):c.202G>A (p.Glu68Lys)	SLC4A1 (E68K)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 4 +4 more	GConflicting classifications of pathogenicity
Select item 323518	NM_000342.4(SLC4A1):c.216G>T (p.Glu72Asp)	SLC4A1 (E72D)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 4 +12 more	GBenign/Likely benign
Select item 323517	NM_000342.4(SLC4A1):c.286C>T (p.Arg96Cys)	SLC4A1 (R96C)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 4 +3 more	GConflicting classifications of pathogenicity
Select item 323516	NM_000342.4(SLC4A1):c.457C>A (p.Leu153Met)	SLC4A1 (L153M)	Single nucleotide variant (missense variant)	Hemolytic anemia +3 more	GBenign/Likely benign
Select item 323515	NM_000342.4(SLC4A1):c.636A>G (p.Ser212=)	SLC4A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 323514	NM_000342.4(SLC4A1):c.697C>G (p.Arg233Gly)	SLC4A1 (R233G)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 4 +2 more	GUncertain significance
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 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 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 323510	NM_000342.4(SLC4A1):c.1314G>A (p.Ser438=)	SLC4A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
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 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 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 323506	NM_000342.4(SLC4A1):c.1878T>C (p.Asp626=)	SLC4A1	Single nucleotide variant (synonymous variant)	Hemolytic anemia +3 more	GBenign/Likely benign
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 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 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 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 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 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 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 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 323497	NM_000342.4(SLC4A1):c.*335G>A	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Hemolytic anemia +2 more	GBenign
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 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 323494	NM_000342.4(SLC4A1):c.*408C>T	SLC4A1	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign/Likely benign

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