ClinVar (all) for Orgtrack (Select 507732) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Orgtrack

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 992941	NM_000298.6(PKLR):c.1591C>A (p.Arg531Ser)	PKLR (R500S +1 more)	Single nucleotide variant (missense variant)	Pyruvate kinase deficiency of red cells	GLikely pathogenic
Select item 992940	NM_000032.5(ALAS2):c.1571A>G (p.His524Arg)	ALAS2 (H487R +2 more)	Single nucleotide variant (missense variant)	X-linked sideroblastic anemia 1	GLikely pathogenic
Select item 992939	NM_001002010.5(NT5C3A):c.166C>T (p.Arg56Ter)	NT5C3A (R10* +2 more)	Single nucleotide variant (nonsense +1 more)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	GPathogenic
Select item 992938	NM_000188.3(HK1):c.1354G>C (p.Gly452Arg)	HK1 (G420R +6 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to hexokinase deficiency	GLikely pathogenic
Select item 992937	NM_001358263.1(HK1):c.75+20308C>T	HK1 (R12*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 992936	NM_001114134.2(EPB42):c.323C>T (p.Thr108Ile)	EPB42 (T108I +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	GLikely pathogenic
Select item 992935	NM_001114134.2(EPB42):c.832G>C (p.Val278Leu)	EPB42 (V278L +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	GLikely pathogenic
Select item 992934	NM_000037.4(ANK1):c.4057C>T (p.Gln1353Ter)	ANK1 (Q1353* +1 more)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 1	GPathogenic
Select item 992933	NM_000037.4(ANK1):c.1427_1430dup (p.Ala478fs)	ANK1 (A478fs +1 more)	Duplication (frameshift variant)	Hereditary spherocytosis type 1	GPathogenic
Select item 992932	NM_000037.4(ANK1):c.4541del (p.Tyr1514fs)	ANK1 (Y1514fs +1 more)	Deletion (frameshift variant +1 more)	Hereditary spherocytosis type 1	GPathogenic
Select item 992931	NM_001355436.2(SPTB):c.2647del (p.Leu883fs)	SPTB (L883fs)	Deletion (frameshift variant)	Hereditary spherocytosis type 2	GPathogenic
Select item 992930	NM_001355436.2(SPTB):c.2278C>T (p.Gln760Ter)	SPTB (Q760*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2 +1 more	GPathogenic
Select item 992929	NM_001355436.2(SPTB):c.1024C>T (p.Gln342Ter)	SPTB (Q342*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2 +1 more	GPathogenic
Select item 992928	NM_001355436.2(SPTB):c.4842+1G>C	SPTB	Single nucleotide variant (splice donor variant)	Hereditary spherocytosis type 2	GPathogenic
Select item 992927	NM_001355436.2(SPTB):c.3936G>A (p.Trp1312Ter)	SPTB (W1312*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2 +1 more	GPathogenic/Likely pathogenic
Select item 992926	NM_001355436.2(SPTB):c.3106dup (p.Gln1036fs)	SPTB (Q1036fs)	Duplication (frameshift variant)	Hereditary spherocytosis type 2	GPathogenic
Select item 992925	NM_003126.4(SPTA1):c.3477+1G>C	SPTA1	Single nucleotide variant (splice donor variant)	Hereditary spherocytosis type 3	GPathogenic
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 978811	NM_000032.5(ALAS2):c.1382T>A (p.Leu461His)	ALAS2 (L424H +2 more)	Single nucleotide variant (missense variant)	X-linked sideroblastic anemia 1	GLikely pathogenic
Select item 978810	NM_002250.3(KCNN4):c.940T>C (p.Ser314Pro)	KCNN4 (S314P)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	GPathogenic
Select item 808732	NM_022436.3(ABCG5):c.1374C>G (p.Tyr458Ter)	DYNC2LI1, ABCG5 (Y458*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Orgtrack

Items: 23