ClinVar for MedGen (Select 1771439) - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664931	NM_133459.4(CCBE1):c.2T>G (p.Met1Arg)	CCBE1 (M1R)	Single nucleotide variant (missense variant +1 more)	Renal tubular acidosis, distal, 4, with hemolytic anemia +1 more	GUncertain significance
Select item 2224011	NM_000342.4(SLC4A1):c.2131G>A (p.Gly711Ser)	SLC4A1 (G711S)	Single nucleotide variant (missense variant)	Renal tubular acidosis, distal, 4, with hemolytic anemia +1 more	GUncertain significance
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 1667854	NM_000342.4(SLC4A1):c.1800+17C>T	SLC4A1	Single nucleotide variant (intron variant)	Autosomal dominant distal renal tubular acidosis +11 more	GLikely benign
Select item 1522836	NM_000342.4(SLC4A1):c.2204C>T (p.Ala735Val)	SLC4A1 (A735V)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 4 +11 more	GUncertain significance
Select item 1499211	NM_000342.4(SLC4A1):c.877-3dup	SLC4A1	Duplication (intron variant)	not provided +11 more	GUncertain significance
Select item 1495044	NM_000342.4(SLC4A1):c.523C>A (p.Pro175Thr)	SLC4A1 (P175T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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)	BLOOD GROUP--SWANN SYSTEM +11 more	GUncertain significance
Select item 1426253	NM_000342.4(SLC4A1):c.2057C>T (p.Thr686Met)	SLC4A1 (T686M)	Single nucleotide variant (missense variant)	Southeast Asian ovalocytosis +11 more	GUncertain significance
Select item 1420205	NM_000342.4(SLC4A1):c.2344C>T (p.Arg782Cys)	SLC4A1 (R782C)	Single nucleotide variant (missense variant)	not provided +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)	Southeast Asian ovalocytosis +11 more	GUncertain significance
Select item 1352118	NM_000342.4(SLC4A1):c.283G>C (p.Gly95Arg)	SLC4A1 (G95R)	Single nucleotide variant (missense variant)	not provided +11 more	GUncertain significance
Select item 1343088	NM_000342.4(SLC4A1):c.713A>T (p.Glu238Val)	SLC4A1 (E238V)	Single nucleotide variant (missense variant)	Autosomal recessive distal renal tubular acidosis +2 more	GConflicting classifications of pathogenicity
Select item 1333541	NM_000342.4(SLC4A1):c.2002G>A (p.Ala668Thr)	SLC4A1 (A668T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1333473	NM_000342.4(SLC4A1):c.1319T>A (p.Leu440Gln)	SLC4A1 (L440Q)	Single nucleotide variant (missense variant)	Renal tubular acidosis, distal, 4, with hemolytic anemia	GUncertain significance
Select item 1330414	NM_000342.4(SLC4A1):c.486-18C>T	SLC4A1	Single nucleotide variant (intron variant)	Southeast Asian ovalocytosis +11 more	GBenign/Likely benign
Select item 1275803	NM_000342.4(SLC4A1):c.2716G>T (p.Glu906Ter)	SLC4A1 (E906*)	Single nucleotide variant (nonsense)	Southeast Asian ovalocytosis +11 more	GLikely pathogenic
Select item 1162819	NM_000342.4(SLC4A1):c.985G>A (p.Glu329Lys)	SLC4A1 (E329K)	Single nucleotide variant (missense variant)	BLOOD GROUP--WALDNER TYPE +11 more	GUncertain significance
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)	Malaria, susceptibility to +11 more	GLikely benign
Select item 1084799	NM_000342.4(SLC4A1):c.1272C>T (p.Gly424=)	SLC4A1	Single nucleotide variant (synonymous variant)	not provided +11 more	GLikely benign
Select item 1081446	NM_000342.4(SLC4A1):c.876+8A>G	SLC4A1	Single nucleotide variant (intron variant)	Autosomal dominant distal renal tubular acidosis +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)	Inborn genetic diseases +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)	BLOOD GROUP--WALDNER TYPE +11 more	GUncertain significance
Select item 1017222	NM_000342.4(SLC4A1):c.1759A>T (p.Met587Leu)	SLC4A1 (M587L)	Single nucleotide variant (missense variant)	BLOOD GROUP--WALDNER TYPE +12 more	GUncertain significance
Select item 1008971	NM_000342.4(SLC4A1):c.1181T>C (p.Leu394Pro)	SLC4A1 (L394P)	Single nucleotide variant (missense variant)	not provided +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)	not provided +11 more	GUncertain significance
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)	not provided +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 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 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 811350	NM_000342.4(SLC4A1):c.2340G>A (p.Leu780=)	SLC4A1	Single nucleotide variant (synonymous variant)	not specified +12 more	GBenign/Likely benign
Select item 780428	NM_000342.4(SLC4A1):c.12G>A (p.Leu4=)	SLC4A1	Single nucleotide variant (synonymous variant)	not provided +11 more	GBenign/Likely benign
Select item 760851	NM_000342.4(SLC4A1):c.2482-7C>T	SLC4A1	Single nucleotide variant (intron variant)	BLOOD GROUP--WALDNER TYPE +11 more	GBenign/Likely benign
Select item 739001	NM_000342.4(SLC4A1):c.297C>T (p.Leu99=)	SLC4A1	Single nucleotide variant (synonymous variant)	BLOOD GROUP--WALDNER TYPE +11 more	GLikely benign
Select item 715536	NM_000342.4(SLC4A1):c.798T>C (p.Phe266=)	SLC4A1	Single nucleotide variant (synonymous variant)	Autosomal dominant distal renal tubular acidosis +12 more	GBenign/Likely benign
Select item 620131	NM_000342.4(SLC4A1):c.1030C>T (p.Arg344Ter)	SLC4A1 (R344*)	Single nucleotide variant (nonsense)	not provided +11 more	GPathogenic/Likely pathogenic
Select item 591765	NM_000342.4(SLC4A1):c.1541G>A (p.Arg514His)	SLC4A1 (R514H)	Single nucleotide variant (missense variant)	BLOOD GROUP--WALDNER TYPE +11 more	GUncertain significance
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 522610	NM_182758.4(WDR72):c.2686C>T (p.Arg896Ter)	WDR72 (R896*)	Single nucleotide variant (nonsense +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GPathogenic
Select item 522609	NM_182758.4(WDR72):c.2522T>A (p.Leu841Gln)	WDR72 (L841Q)	Single nucleotide variant (missense variant +1 more)	Renal tubular acidosis, distal, 4, with hemolytic anemia	GPathogenic
Select item 522608	NM_182758.4(WDR72):c.1777A>G (p.Arg593Gly)	WDR72 (R593G)	Single nucleotide variant (missense variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	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 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 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 255914	NM_000342.4(SLC4A1):c.539G>A (p.Arg180His)	SLC4A1 (R180H)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 4 +4 more	GConflicting classifications of pathogenicity
Select item 255913	NM_000342.4(SLC4A1):c.2712C>T (p.Tyr904=)	SLC4A1	Single nucleotide variant (synonymous variant)	not specified +13 more	GBenign/Likely benign
Select item 255908	NM_000342.4(SLC4A1):c.1800+12C>T	SLC4A1	Single nucleotide variant (intron variant)	BLOOD GROUP--WRIGHT ANTIGEN +12 more	GBenign/Likely benign
Select item 17779	NM_000342.4(SLC4A1):c.1805G>C (p.Arg602Pro)	SLC4A1 (R602P)	Single nucleotide variant (missense variant)	Renal tubular acidosis, distal, 4, with hemolytic anemia	GPathogenic
Select item 17773	NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met)	SLC4A1 (V488M)	Single nucleotide variant (missense variant)	not provided +11 more	GPathogenic/Likely pathogenic
Select item 17772	NM_000342.4(SLC4A1):c.2545GTG[1] (p.Val850del)	SLC4A1 (V850del)	Microsatellite (inframe_deletion)	Renal tubular acidosis, distal, 4, with hemolytic anemia	GPathogenic
Select item 17771	NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp)	SLC4A1 (A858D)	Single nucleotide variant (missense variant)	Malaria, susceptibility to +11 more	GConflicting classifications of pathogenicity
Select item 17767	NM_000342.4(SLC4A1):c.2102G>A (p.Gly701Asp)	SLC4A1 (G701D)	Single nucleotide variant (missense variant)	Malaria, susceptibility to +12 more	GPathogenic
Select item 17764	NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys)	SLC4A1 (R589C)	Single nucleotide variant (missense variant)	not provided +11 more	GPathogenic/Likely pathogenic
Select item 17754	NM_000342.3(SLC4A1):c.-62G>A	SLC4A1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant distal renal tubular acidosis +12 more	GUncertain significance
Select item 17753	NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del)	SLC4A1	Deletion (inframe_deletion)	not provided +11 more	GPathogenic/Likely pathogenic

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Items: 60