ClinVar for MedGen (Select 1684774) - ClinVar

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

Links from MedGen

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066138	NM_000188.3(HK1):c.761G>A (p.Arg254Lys)	HK1 (R222K +6 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with visual defects and brain anomalies	GUncertain significance
Select item 2664015	NM_000188.3(HK1):c.991C>T (p.Arg331Ter)	HK1 (R299* +6 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2506469	NM_000188.3(HK1):c.1370C>A (p.Thr457Lys)	HK1 (T425K +6 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with visual defects and brain anomalies	GLikely pathogenic
Select item 1696461	NM_000188.3(HK1):c.1119C>A (p.His373Gln)	HK1 (H341Q +6 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with visual defects and brain anomalies	GUncertain significance
Select item 1435898	NM_000188.3(HK1):c.2381G>A (p.Arg794Gln)	HK1 (R782Q +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1320105	NM_000188.3(HK1):c.796G>A (p.Asp266Asn)	HK1 (D234N +6 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with visual defects and brain anomalies	GLikely 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)	Neurodevelopmental disorder with visual defects and brain anomalies +3 more	GBenign
Select item 1213819	NM_000188.3(HK1):c.227-5115A>T	HK1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with visual defects and brain anomalies	GUncertain significance
Select item 1030656	NM_000188.3(HK1):c.2692G>A (p.Gly898Ser)	HK1 (G866S +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1014924	NM_000188.3(HK1):c.1720-3C>T	HK1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4G +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)	Retinitis pigmentosa 79 +4 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)	HK1-related condition +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)	Charcot-Marie-Tooth disease type 4G +5 more	GBenign
Select item 915369	NM_000188.3(HK1):c.1393G>A (p.Glu465Lys)	HK1 (E465K +6 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with visual defects and brain anomalies +1 more	GConflicting classifications of pathogenicity
Select item 776515	NM_000188.3(HK1):c.1031+6T>C	HK1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4G +4 more	GBenign
Select item 599646	NM_000188.3(HK1):c.1252A>G (p.Lys418Glu)	HK1 (K406E +6 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4G +2 more	GLikely pathogenic
Select item 439787	NM_000188.3(HK1):c.78C>G (p.Leu26=)	HK1	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GBenign
Select item 421464	NM_000188.3(HK1):c.1241G>A (p.Gly414Glu)	HK1 (G402E +6 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 421007	NM_000188.3(HK1):c.1334C>T (p.Ser445Leu)	HK1 (S433L +6 more)	Single nucleotide variant (missense variant)	not provided +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)	Charcot-Marie-Tooth disease type 4G +5 more	GConflicting classifications of pathogenicity
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 23