ClinVar for MedGen (Select 461693) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1685345	NM_001358263.1(HK1):c.1A>T (p.Met1Leu)	HK1 (M1L)	Single nucleotide variant (missense variant +2 more)	Hemolytic anemia due to hexokinase deficiency	GLikely pathogenic
Select item 1438859	NM_000188.3(HK1):c.281G>A (p.Arg94Gln)	HK1 (R82Q +5 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to hexokinase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1285349	NM_000188.3(HK1):c.2219+27T>C	HK1	Single nucleotide variant (intron variant)	Hemolytic anemia due to hexokinase deficiency +3 more	GBenign
Select item 1285348	NM_000188.3(HK1):c.1839+31G>A	HK1	Single nucleotide variant (intron variant)	Hemolytic anemia due to hexokinase deficiency +3 more	GBenign
Select item 1285347	NM_001358263.1(HK1):c.75+23T>C	HK1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4G +3 more	GBenign
Select item 1032246	NM_000188.3(HK1):c.2519C>T (p.Ala840Val)	HK1 (A844V +6 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to hexokinase deficiency +1 more	GUncertain significance
Select item 1030655	NM_000188.3(HK1):c.2165G>A (p.Arg722Lys)	HK1 (R721K +6 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to hexokinase deficiency +1 more	GUncertain significance
Select item 1029035	NM_001358263.1(HK1):c.75+20336T>A	HK1	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 994250	NM_000188.3(HK1):c.949G>A (p.Gly317Ser)	HK1 (G285S +6 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4G +5 more	GUncertain significance
Select item 994196	NM_001358263.1(HK1):c.53T>C (p.Leu18Pro)	HK1 (L18P +1 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 4G +5 more	GBenign/Likely benign
Select item 994062	NM_001358263.1(HK1):c.75+5174A>G	HK1 (H7R)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with visual defects and brain anomalies +5 more	GBenign
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 776515	NM_000188.3(HK1):c.1031+6T>C	HK1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 79 +4 more	GBenign
Select item 439787	NM_000188.3(HK1):c.78C>G (p.Leu26=)	HK1	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 79 +5 more	GBenign
Select item 421007	NM_000188.3(HK1):c.1334C>T (p.Ser445Leu)	HK1 (S433L +6 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to hexokinase deficiency +6 more	GPathogenic/Likely pathogenic
Select item 372693	NM_000188.3(HK1):c.1370C>T (p.Thr457Met)	HK1 (T445M +6 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 255483	NM_000188.3(HK1):c.1443G>A (p.Lys481=)	HK1	Single nucleotide variant (synonymous variant)	Retinal dystrophy +6 more	GBenign
Select item 55851	NM_000188.3(HK1):c.2039C>G (p.Thr680Ser)	HK1 (T680S +6 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to hexokinase deficiency	GPathogenic
Select item 40213	NM_001358263.1(HK1):c.-270G>C	HK1	Single nucleotide variant (5 prime UTR variant +1 more)	Hemolytic anemia due to hexokinase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 14916	NM_000188.3(HK1):c.1586T>C (p.Leu529Ser)	HK1 (L529S +6 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to hexokinase deficiency	GPathogenic
Select item 14915	NM_000188.3(HK1):c.497_591+1del	HK1	Deletion (splice acceptor variant +2 more)	Hemolytic anemia due to hexokinase deficiency	GPathogenic

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Items: 22