ClinVar (all) for Orgtrack (Select 506520) - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2507024	NM_021095.4(SLC5A6):c.460-19T>G	SLC5A6	Single nucleotide variant (intron variant)	Neurodegeneration, infantile-onset, biotin-responsive	GLikely pathogenic
Select item 1300177	NM_000037.4(ANK1):c.4098C>A (p.Cys1366Ter)	ANK1 (C1366* +1 more)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 1	GPathogenic
Select item 1300176	NM_000037.4(ANK1):c.2098-1G>T	ANK1	Single nucleotide variant (splice acceptor variant)	Hereditary spherocytosis type 1	GPathogenic
Select item 544828	NM_000064.4(C3):c.1921G>A (p.Asp641Asn)	C3 (D641N)	Single nucleotide variant (missense variant)	Familial hemolytic anemia	GUncertain significance
Select item 544827	NM_022437.3(ABCG8):c.-27G>A	ABCG8, ABCG5	Single nucleotide variant (5 prime UTR variant)	Familial hemolytic anemia	GUncertain significance
Select item 544826	NM_001360016.2(G6PD):c.448G>A (p.Val150Ile)	G6PD (V150I +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +2 more	GLikely pathogenic
Select item 544825	NM_001142864.4(PIEZO1):c.1126C>G (p.Pro376Ala)	PIEZO1, HSALR1 (P376A)	Single nucleotide variant (missense variant)	Familial hemolytic anemia	GUncertain significance
Select item 544824	NM_172351.3(CD46):c.402T>G (p.Ile134Met)	CD46 (I134M)	Single nucleotide variant (missense variant)	Familial hemolytic anemia	GUncertain significance
Select item 544823	NM_003126.4(SPTA1):c.3291G>A (p.Trp1097Ter)	SPTA1 (W1097*)	Single nucleotide variant (nonsense)	Familial hemolytic anemia	GPathogenic
Select item 544822	NM_003126.4(SPTA1):c.2898G>A (p.Gln966=)	SPTA1	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 3	GLikely pathogenic
Select item 544821	NM_003126.4(SPTA1):c.6421C>T (p.Arg2141Trp)	SPTA1 (R2141W)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 3 +3 more	GConflicting classifications of pathogenicity
Select item 544820	NM_003126.4(SPTA1):c.1688G>A (p.Arg563Gln)	SPTA1 (R563Q)	Single nucleotide variant (missense variant)	Pyropoikilocytosis, hereditary +4 more	GConflicting classifications of pathogenicity
Select item 544819	NM_003126.4(SPTA1):c.6600+5G>T	SPTA1	Single nucleotide variant (intron variant)	Familial hemolytic anemia	GLikely pathogenic
Select item 544818	NM_001355436.2(SPTB):c.6271C>A (p.Pro2091Thr)	SPTB (P2091T)	Single nucleotide variant (missense variant)	Familial hemolytic anemia	GLikely benign
Select item 544817	NM_001355436.2(SPTB):c.5623C>T (p.Gln1875Ter)	SPTB (Q1875*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2	GPathogenic
Select item 544816	NM_001355436.2(SPTB):c.3916C>T (p.Arg1306Ter)	SPTB (R1306*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2 +1 more	GPathogenic/Likely pathogenic
Select item 544815	NM_001355436.2(SPTB):c.6737C>T (p.Ala2246Val)	PLEKHG3, SPTB (A2246V)	Single nucleotide variant (3 prime UTR variant +1 more)	Familial hemolytic anemia	GUncertain significance
Select item 544814	NM_001355436.2(SPTB):c.6706C>A (p.Leu2236Met)	PLEKHG3, SPTB (L2236M)	Single nucleotide variant (3 prime UTR variant +1 more)	Familial hemolytic anemia	GUncertain significance
Select item 544813	NM_001355436.2(SPTB):c.4973+5G>A	SPTB	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 2 +1 more	GPathogenic/Likely pathogenic
Select item 544812	NM_001355436.2(SPTB):c.2863C>T (p.Arg955Ter)	SPTB (R955*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 544811	NM_001355436.2(SPTB):c.647G>A (p.Arg216Gln)	SPTB (R216Q)	Single nucleotide variant (missense variant)	SPTB-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 544810	NM_001355436.2(SPTB):c.1331_1338del (p.Leu444fs)	SPTB (L444fs)	Deletion (frameshift variant)	Hereditary spherocytosis type 2	GPathogenic
Select item 544809	NM_000342.4(SLC4A1):c.2423G>A (p.Arg808His)	SLC4A1 (R808H)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 4 +2 more	GPathogenic/Likely pathogenic
Select item 544808	NM_000342.4(SLC4A1):c.695-3C>A	SLC4A1	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 4	GLikely pathogenic
Select item 544807	NM_000342.4(SLC4A1):c.1322T>G (p.Leu441Arg)	SLC4A1 (L441R)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 4	GLikely pathogenic
Select item 544806	NM_000342.4(SLC4A1):c.486-2A>G	SLC4A1	Single nucleotide variant (splice acceptor variant)	Hereditary spherocytosis type 4	GPathogenic
Select item 544805	NM_000342.4(SLC4A1):c.1458C>G (p.Tyr486Ter)	SLC4A1 (Y486*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 4	GPathogenic
Select item 544804	NM_000037.4(ANK1):c.534del (p.His178fs)	ANK1, LOC124153154 (H178fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 1	GPathogenic
Select item 544803	NM_000037.4(ANK1):c.1A>G (p.Met1Val)	ANK1 (M1V)	Single nucleotide variant (missense variant +2 more)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 544802	NM_000037.4(ANK1):c.4462C>T (p.Arg1488Ter)	ANK1, LOC126860368 (R1488* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 544801	NM_000037.4(ANK1):c.1702-2A>C	ANK1, LOC126860369	Single nucleotide variant (splice acceptor variant)	Hereditary spherocytosis type 1	GPathogenic
Select item 544800	NM_000037.4(ANK1):c.5152C>T (p.Gln1718Ter)	ANK1 (Q1718* +2 more)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 1	GPathogenic
Select item 258956	NM_003126.4(SPTA1):c.6672A>C (p.Glu2224Asp)	SPTA1 (E2224D)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
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 513	NM_000037.4(ANK1):c.1801-17G>A	ANK1	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 510	NM_000037.4(ANK1):c.5497C>T (p.Arg1833Ter)	ANK1 (R1833* +3 more)	Single nucleotide variant (nonsense +1 more)	ANK1-related disorder +2 more	GPathogenic/Likely pathogenic

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Items: 36