ClinVar for MedGen (Select 343122) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1709823	NM_000188.3(HK1):c.271C>T (p.Arg91Ter)	HK1 (R126* +5 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1285349	NM_000188.3(HK1):c.2219+27T>C	HK1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4G +4 more	GBenign
Select item 1285348	NM_000188.3(HK1):c.1839+31G>A	HK1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4G +4 more	GBenign
Select item 1285347	NM_001358263.1(HK1):c.75+23T>C	HK1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 79 +4 more	GBenign
Select item 1172759	NM_001358263.1(HK1):c.19C>T (p.Arg7Ter)	HK1 (R7*)	Single nucleotide variant (nonsense +1 more)	Charcot-Marie-Tooth disease type 4G	GPathogenic/Likely pathogenic
Select item 1030654	NM_000188.3(HK1):c.1871dup (p.Ala625fs)	HK1 (A660fs +6 more)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease type 4G +1 more	GUncertain significance
Select item 1014924	NM_000188.3(HK1):c.1720-3C>T	HK1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with visual defects and brain anomalies +2 more	GUncertain significance
Select item 994250	NM_000188.3(HK1):c.949G>A (p.Gly317Ser)	HK1 (G285S +6 more)	Single nucleotide variant (missense variant)	not provided +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)	not provided +4 more	GLikely benign
Select item 994062	NM_001358263.1(HK1):c.75+5174A>G	HK1 (H7R)	Single nucleotide variant (missense variant +1 more)	Hemolytic anemia due to hexokinase deficiency +5 more	GBenign
Select item 802580	NM_001358263.1(HK1):c.1A>G (p.Met1Val)	HK1 (M1V)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 4G	GLikely pathogenic
Select item 776515	NM_000188.3(HK1):c.1031+6T>C	HK1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 599646	NM_000188.3(HK1):c.1252A>G (p.Lys418Glu)	HK1 (K406E +6 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with visual defects and brain anomalies +2 more	GLikely pathogenic
Select item 587450	NM_001358263.1(HK1):c.4G>A (p.Gly2Arg)	HK1 (G2R)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4G	GUncertain significance
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 372693	NM_000188.3(HK1):c.1370C>T (p.Thr457Met)	HK1 (T445M +6 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
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 208363	NM_001358263.1(HK1):c.-290G>C	HK1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4G	Gnot provided
Select item 40213	NM_001358263.1(HK1):c.-270G>C	HK1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity