"GeneDx"[submitter] AND "HK1"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 993784	NM_001358263.1(HK1):c.28-3306C>T	HK1 (P33S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 811462	NM_001358263.1(HK1):c.75+20082A>G	HK1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 857390	NM_000188.3(HK1):c.97G>A (p.Asp33Asn)	HK1 (D21N +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2412824	NM_000188.3(HK1):c.173C>T (p.Thr58Ile)	HK1 (T30I +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574456	NM_000188.3(HK1):c.189G>A (p.Met63Ile)	HK1 (M35I +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306055	NM_000188.3(HK1):c.215C>T (p.Pro72Leu)	HK1 (P107L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1709823	NM_000188.3(HK1):c.271C>T (p.Arg91Ter)	HK1 (R126* +5 more)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4G +1 more	GConflicting classifications of pathogenicity
Select item 1179815	NM_000188.3(HK1):c.469C>T (p.Pro157Ser)	HK1 (P129S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504745	NM_000188.3(HK1):c.562C>G (p.Leu188Val)	HK1 (L160V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1314400	NM_000188.3(HK1):c.841A>C (p.Ile281Leu)	HK1 (I249L +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304729	NM_000188.3(HK1):c.916G>T (p.Val306Phe)	HK1 (V274F +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2412836	NM_000188.3(HK1):c.1178T>C (p.Ile393Thr)	HK1 (I361T +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 424598	NM_000188.3(HK1):c.1616G>A (p.Arg539His)	HK1 (R527H +6 more)	Single nucleotide variant (missense variant)	HK1-related condition +1 more	GUncertain significance
Select item 2580546	NM_000188.3(HK1):c.2285C>T (p.Thr762Ile)	HK1 (T730I +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1802081	NM_000188.3(HK1):c.2401C>T (p.Arg801Trp)	HK1 (R769W +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695712	NM_000188.3(HK1):c.2551_2563del (p.Leu851fs)	HK1 (L819fs +6 more)	Deletion (frameshift variant)	not provided	GUncertain significance

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Items: 21