ClinVar for MedGen (Select 1386200) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2581721	NM_000188.3(HK1):c.613del (p.Ala205fs)	HK1 (A173fs +6 more)	Deletion (frameshift variant)	Retinitis pigmentosa 79	GLikely pathogenic
Select item 1700095	NM_000188.3(HK1):c.1240G>A (p.Gly414Arg)	HK1 (G382R +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1687570	NM_000188.3(HK1):c.1298G>A (p.Arg433His)	HK1 (R401H +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1333598	NM_000188.3(HK1):c.1525G>A (p.Val509Ile)	HK1 (V477I +6 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 79	GUncertain significance
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)	not provided +4 more	GBenign
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)	Charcot-Marie-Tooth disease type 4G +4 more	GLikely benign
Select item 994062	NM_001358263.1(HK1):c.75+5174A>G	HK1 (H7R)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GBenign
Select item 776515	NM_000188.3(HK1):c.1031+6T>C	HK1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 439787	NM_000188.3(HK1):c.78C>G (p.Leu26=)	HK1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4G +5 more	GBenign
Select item 424845	NM_000188.3(HK1):c.2539G>A (p.Glu847Lys)	HK1 (E847K +6 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 421007	NM_000188.3(HK1):c.1334C>T (p.Ser445Leu)	HK1 (S433L +6 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder +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	GPathogenic/Likely pathogenic
Select item 255483	NM_000188.3(HK1):c.1443G>A (p.Lys481=)	HK1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with visual defects and brain anomalies +6 more	GBenign