Related gene-specific medical variations for Gene (Select 3098) - ClinVar

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

Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2802700	NM_000188.3(HK1):c.63+19C>A	HK1, LOC130003980	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2689216	NM_000188.3(HK1):c.1289C>T (p.Thr430Ile)	HK1 (T398I +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689215	NM_000188.3(HK1):c.1384C>T (p.Arg462Cys)	HK1 (R430C +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689214	NM_000188.3(HK1):c.117_119del (p.Ile39del)	HK1 (I11del +5 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2689213	NM_000188.3(HK1):c.1231G>A (p.Gly411Ser)	HK1 (G379S +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689212	NM_000188.3(HK1):c.2041G>A (p.Gly681Ser)	HK1 (G649S +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575936	NM_000188.3(HK1):c.1739C>T (p.Ser580Phe)	HK1 (S548F +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432484	NM_000188.3(HK1):c.1400A>T (p.His467Leu)	HK1 (H435L +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432483	NM_000188.3(HK1):c.892A>T (p.Ser298Cys)	HK1 (S266C +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432482	NM_000188.3(HK1):c.1592T>A (p.Leu531Gln)	HK1 (L499Q +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432481	NM_000188.3(HK1):c.384T>A (p.Asp128Glu)	HK1 (D100E +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432480	NM_000188.3(HK1):c.1634T>A (p.Ile545Asn)	HK1 (I513N +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432479	NM_000188.3(HK1):c.875+5G>A	HK1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2432478	NM_000188.3(HK1):c.1894G>C (p.Asp632His)	HK1 (D600H +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432476	NM_000188.3(HK1):c.2714C>A (p.Thr905Lys)	HK1 (T873K +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432475	NM_000188.3(HK1):c.1829G>A (p.Ser610Asn)	HK1 (S578N +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432474	NM_000188.3(HK1):c.2198C>T (p.Ser733Phe)	HK1 (S701F +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428596	NM_001358263.1(HK1):c.28G>T (p.Ala10Ser)	HK1 (A10S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1978520	NM_000188.3(HK1):c.12G>T (p.Ala4=)	HK1, LOC130003980	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1951130	NM_000188.3(HK1):c.24C>G (p.Ala8=)	HK1, LOC130003980	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1721349	NM_000188.3(HK1):c.55G>A (p.Val19Ile)	HK1, LOC130003980 (V19I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1331066	NM_000188.3(HK1):c.2634G>A (p.Thr878=)	HK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1131649	NM_000188.3(HK1):c.63+9C>G	HK1, LOC130003980	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1120885	NM_000188.3(HK1):c.40C>T (p.Leu14=)	LOC130003980, HK1	Single nucleotide variant (intron variant +1 more)	not specified +1 more	GLikely benign
Select item 1083024	NM_000188.3(HK1):c.63+8C>T	HK1, LOC130003980	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1082005	NM_000188.3(HK1):c.36G>T (p.Thr12=)	LOC130003980, HK1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1003936	NM_000188.3(HK1):c.53A>G (p.Gln18Arg)	LOC130003980, HK1 (Q18R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 993707	NM_000188.3(HK1):c.2314A>T (p.Ile772Phe)	HK1 (I740F +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 866949	NM_000188.3(HK1):c.797A>G (p.Asp266Gly)	HK1 (D234G +6 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 811291	NM_000188.3(HK1):c.495+12C>T	HK1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 806498	NM_000188.3(HK1):c.528del (p.Ala177fs)	HK1 (A149fs +5 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 439790	NM_000188.3(HK1):c.*6C>T	HK1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 35