ClinVar for MedGen (Select 52450) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3893687	NM_000342.4(SLC4A1):c.1527_1541del (p.Ser510_Arg514del)	SLC4A1	Deletion	Hereditary spherocytosis	GUncertain significance
Select item 3779478	NM_000037.4(ANK1):c.3964C>T (p.Arg1322Cys)	ANK1 (R1322C +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis	GUncertain significance
Select item 3779473	NM_000037.4(ANK1):c.2717C>T (p.Ala906Val)	ANK1 (A906V +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis	GUncertain significance
Select item 3779469	NM_000037.4(ANK1):c.2248G>A (p.Val750Met)	ANK1 (V750M +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis	GUncertain significance
Select item 3779468	NM_000037.4(ANK1):c.2190G>C (p.Lys730Asn)	ANK1 (K730N +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis	GUncertain significance
Select item 3362889	NM_000037.4(ANK1):c.3072T>A (p.Tyr1024Ter)	ANK1 (Y1024* +1 more)	Single nucleotide variant (nonsense)	Hereditary spherocytosis	GLikely pathogenic
Select item 2749545	NM_000037.4(ANK1):c.5299G>A (p.Glu1767Lys)	ANK1 (E1767K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2683016	NM_000037.4(ANK1):c.1054A>G (p.Arg352Gly)	ANK1 (R352G +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis +2 more	GUncertain significance
Select item 2505370	NM_000175.5(GPI):c.283-2A>G	GPI	Single nucleotide variant (splice acceptor variant)	Hereditary spherocytosis	GLikely pathogenic
Select item 2505369	NM_001355436.2(SPTB):c.2163_2164dup (p.Ser722fs)	SPTB (S722fs)	Microsatellite (frameshift variant)	Hereditary spherocytosis	GLikely pathogenic
Select item 2505368	NM_000037.4(ANK1):c.1638C>A (p.Tyr546Ter)	ANK1 (Y546* +1 more)	Single nucleotide variant (nonsense)	Hereditary spherocytosis	GLikely pathogenic
Select item 2439043	NM_000037.4(ANK1):c.3829G>C (p.Val1277Leu)	ANK1 (V1277L +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis +2 more	GUncertain significance
Select item 1326902	NM_001355436.2(SPTB):c.4520G>T (p.Gly1507Val)	SPTB (G1507V)	Single nucleotide variant (missense variant)	Hereditary spherocytosis +2 more	Gnot provided
Select item 1030630	NM_003126.4(SPTA1):c.4339-99C>T	SPTA1	Single nucleotide variant (intron variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 996360	NM_003126.4(SPTA1):c.6788+11C>T	SPTA1	Single nucleotide variant (intron variant)	Hereditary spherocytosis +1 more	GPathogenic
Select item 624571	NM_001355436.2(SPTB):c.4063G>T (p.Glu1355Ter)	SPTB (E1355*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis	GPathogenic
Select item 523132	NM_001355436.2(SPTB):c.6194_6195dup (p.Ala2066fs)	SPTB (A2066fs)	Duplication (frameshift variant)	Hereditary spherocytosis	GLikely pathogenic
Select item 522602	NM_001355436.2(SPTB):c.6095T>C (p.Leu2032Pro)	SPTB (L2032P)	Single nucleotide variant (missense variant)	Hereditary spherocytosis	GPathogenic