GK[gene] and "single gene"[properties] - ClinVar

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

Search results

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3100025	NM_001205019.2(GK):c.55G>A (p.Gly19Ser)	GK (G19S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2504145	NM_001205019.2(GK):c.55G>C (p.Gly19Arg)	GK (G19R)	Single nucleotide variant (non-coding transcript variant +1 more)	See cases	GUncertain significance
Select item 730465	NM_001205019.2(GK):c.78+9G>A	GK	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1281954	NM_001205019.2(GK):c.78+164G>C	GK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2631112	NM_001205019.2(GK):c.89C>A (p.Ser30Ter)	GK (S30*)	Single nucleotide variant (nonsense +1 more)	GK-related disorder	GLikely pathogenic
Select item 1029689	NM_001205019.2(GK):c.106C>T (p.Leu36Phe)	GK (L36F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2610479	NM_001205019.2(GK):c.146G>A (p.Arg49Lys)	GK (R49K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 986037	NM_001205019.2(GK):c.152+1G>C	GK	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 1286744	NM_001205019.2(GK):c.153-92A>C	GK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 590201	NM_001205019.2(GK):c.165G>A (p.Gln55=)	GK	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign
Select item 711787	NM_001205019.2(GK):c.186T>C (p.His62=)	GK	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1679737	NM_001205019.2(GK):c.197A>C (p.Glu66Ala)	GK (E66A)	Single nucleotide variant (missense variant)	Inborn glycerol kinase deficiency	GUncertain significance
Select item 3100022	NM_001205019.2(GK):c.235A>C (p.Asn79His)	GK (N79H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2370998	NM_001205019.2(GK):c.238A>G (p.Ile80Val)	GK (I80V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1303393	NM_001205019.2(GK):c.248C>T (p.Ser83Phe)	GK (S83F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 379913	NM_001205019.2(GK):c.259+2T>C	GK	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1685851	NM_001205019.2(GK):c.259+1255G>A	GK	Single nucleotide variant (intron variant)	Inborn glycerol kinase deficiency	GPathogenic
Select item 3052990	NM_001205019.2(GK):c.259+1257G>A	GK	Single nucleotide variant (intron variant)	GK-related disorder	GLikely benign
Select item 1295080	NM_001205019.2(GK):c.259+2333G>T	GK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235625	NM_001205019.2(GK):c.259+2490_259+2491del	GK	Deletion (intron variant)	not provided	GBenign
Select item 3100023	NM_001205019.2(GK):c.364A>G (p.Thr122Ala)	GK (T122A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2712717	NM_001205019.2(GK):c.373_374del (p.Ser125_Leu126insTer)	GK	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 724377	NM_001205019.2(GK):c.372G>A (p.Glu124=)	GK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1697137	NM_001205019.2(GK):c.382A>G (p.Lys128Glu)	GK (K128E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 817092	NM_001205019.2(GK):c.385del (p.Arg129fs)	GK (R129fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1237342	NM_001205019.2(GK):c.414+128G>A	GK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3238767	NM_001205019.2(GK):c.443dup (p.Tyr148Ter)	GK (Y148* +1 more)	Duplication (nonsense +1 more)	Inborn glycerol kinase deficiency	GLikely pathogenic
Select item 590219	NM_001205019.2(GK):c.501C>T (p.Ala167=)	GK	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 3100024	NM_001205019.2(GK):c.502G>A (p.Val168Ile)	GK (V196I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 379569	NM_001205019.2(GK):c.514C>T (p.Arg172Ter)	GK (R172*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1236084	NM_001205019.2(GK):c.552+142G>C	GK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277001	NM_001205019.2(GK):c.553-244G>A	GK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250732	NM_001205019.2(GK):c.553-196A>G	GK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268423	NM_001205019.2(GK):c.553-102C>T	GK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 872759	NM_001205019.2(GK):c.553-2A>G	GK	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 10941	NM_001205019.2(GK):c.553-1G>C	GK	Single nucleotide variant (splice acceptor variant)	Inborn glycerol kinase deficiency	GPathogenic
Select item 1005401	NM_001205019.2(GK):c.580G>A (p.Val194Ile)	GK (V194I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1290792	NM_001205019.2(GK):c.663-174A>T	GK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3047660	NM_001205019.2(GK):c.663-12_663-10del	GK	Microsatellite (intron variant)	GK-related disorder	GLikely benign
Select item 1175814	NM_001205019.2(GK):c.679A>G (p.Met227Val)	GK (M227V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689131	NM_001205019.2(GK):c.683A>C (p.Glu228Ala)	GK (E228A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn glycerol kinase deficiency	GUncertain significance
Select item 1251002	NM_001205019.2(GK):c.729+17C>A	GK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249126	NM_001205019.2(GK):c.730-22C>T	GK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3025272	NM_001205019.2(GK):c.745G>A (p.Val249Met)	GK (V249M)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1237788	NM_001205019.2(GK):c.747+219G>A	GK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238121	NM_001205019.2(GK):c.1054+22G>T	GK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 92535	NM_001205019.2(GK):c.1076G>A (p.Gly359Asp)	GK (G353D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3067579	NM_001205019.2(GK):c.1084T>C (p.Tyr362His)	GK (Y356H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 590223	NM_001205019.2(GK):c.1113G>A (p.Ser371=)	GK	Single nucleotide variant (synonymous variant)	GK-related disorder +2 more	GBenign/Likely benign
Select item 3100021	NM_001205019.2(GK):c.1144G>A (p.Ala382Thr)	GK (A382T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 10942	NC_000023.11:g.(30720096_30720620)_(30720742_30720851)del	GK	Deletion	Inborn glycerol kinase deficiency	GPathogenic
Select item 10945	NM_001205019.2(GK):c.1255C>T (p.Arg419Ter)	GK (R413* +1 more)	Single nucleotide variant (nonsense)	Inborn glycerol kinase deficiency	GPathogenic
Select item 2609807	NM_001205019.2(GK):c.1256G>A (p.Arg419Gln)	GK (R413Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 10943	NM_001205019.2(GK):c.1337A>T (p.Asp446Val)	GK (D440V +1 more)	Single nucleotide variant (missense variant)	Inborn glycerol kinase deficiency	GPathogenic
Select item 92536	NM_001205019.2(GK):c.1357+20T>C	GK	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2411803	NM_001205019.2(GK):c.1423G>A (p.Val475Ile)	GK (V497I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1277264	NM_001205019.2(GK):c.1501+181T>C	GK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267033	NM_001205019.2(GK):c.1501+314dup	GK	Duplication (intron variant)	not provided	GBenign
Select item 1700323	NM_001205019.2(GK):c.1522A>G (p.Thr508Ala)	GK (T502A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 10946	NM_001205019.2(GK):c.1525T>C (p.Trp509Arg)	GK (W503R +1 more)	Single nucleotide variant (missense variant)	Inborn glycerol kinase deficiency	GPathogenic
Select item 758151	NM_001205019.2(GK):c.1545G>A (p.Lys515=)	GK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 743693	NM_001205019.2(GK):c.1548A>T (p.Ser516=)	GK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1282855	NM_001205019.2(GK):c.1582+305del	GK	Deletion (intron variant)	not provided	GBenign
Select item 1234663	NM_001205019.2(GK):c.1669+121A>T	GK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 523425	NM_001205019.2(GK):c.*1A>G	GK	Single nucleotide variant (3 prime UTR variant)	Global developmental delay +2 more	GUncertain significance
Select item 1282141	NM_001205019.2(GK):c.*214del	GK	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 10947	NM_001128127.3(GK):c.338-52_338-51insAluY	GK	Insertion	Inborn glycerol kinase deficiency	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 67