ClinVar (all) for Orgtrack (Select 507200) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1299414	NM_000037.4(ANK1):c.3629+2T>C	ANK1	Single nucleotide variant (splice donor variant)	Hereditary spherocytosis type 1	GPathogenic
Select item 1299413	NM_000037.4(ANK1):c.3269del (p.Leu1090fs)	ANK1 (L1090fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 1299412	NM_000037.4(ANK1):c.3203G>A (p.Arg1068Gln)	ANK1 (R1068Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 1299411	NM_000037.4(ANK1):c.3059_3066del (p.His1020fs)	ANK1 (H1020fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 1299410	NM_000037.4(ANK1):c.2393_2403del (p.Val798fs)	ANK1 (V798fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 1	GPathogenic
Select item 1299409	NM_000037.4(ANK1):c.2104dup (p.Tyr702fs)	ANK1 (Y702fs +1 more)	Duplication (frameshift variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 1299408	NM_000037.4(ANK1):c.2004del (p.Leu669fs)	ANK1 (L669fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 1299407	NM_000037.4(ANK1):c.4465C>T (p.Gln1489Ter)	ANK1, LOC126860368 (Q1489* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1299406	NM_000037.4(ANK1):c.3850del (p.Asp1284fs)	ANK1 (D1284fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 1	GPathogenic
Select item 1299405	NM_000037.4(ANK1):c.3775del (p.Tyr1259fs)	ANK1 (Y1259fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 1299404	NM_000037.4(ANK1):c.382_386del (p.Lys128fs)	ANK1 (K128fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 1	GPathogenic
Select item 1162194	NM_000476.3(AK1):c.301C>A (p.Gln101Lys)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (Q101K +1 more)	Single nucleotide variant (missense variant)	Adenylate kinase deficiency	GPathogenic
Select item 827634	NM_000398.7(CYB5R3):c.310G>T (p.Gly104Cys)	CYB5R3 (G104C +2 more)	Single nucleotide variant (missense variant)	METHEMOGLOBINEMIA, TYPE I	GPathogenic
Select item 827633	NM_000398.7(CYB5R3):c.190C>G (p.Leu64Val)	CYB5R3 (L41V +2 more)	Single nucleotide variant (missense variant)	METHEMOGLOBINEMIA, TYPE I	GPathogenic
Select item 827632	NM_000398.7(CYB5R3):c.103A>C (p.Thr35Pro)	CYB5R3 (T12P +2 more)	Single nucleotide variant (missense variant)	METHEMOGLOBINEMIA, TYPE I	GPathogenic
Select item 809380	NM_000398.7(CYB5R3):c.352C>T (p.His118Tyr)	CYB5R3 (H118Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 363019	NM_000037.4(ANK1):c.2167C>A (p.His723Asn)	ANK1 (H756N +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity