"Ambry Genetics"[submitter] AND "GK"[gene] - ClinVar - NCBI

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Items: 19

	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 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 590201	NM_001205019.2(GK):c.165G>A (p.Gln55=)	GK	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign
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 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 590219	NM_001205019.2(GK):c.501C>T (p.Ala167=)	GK	Single nucleotide variant (synonymous variant)	History of neurodevelopmental disorder +1 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 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 3281481	NM_001205019.2(GK):c.661G>A (p.Glu221Lys)	GK (E221K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 590211	NM_001205019.2(GK):c.748-5A>T	GK, GK-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	History of neurodevelopmental disorder +1 more	GBenign/Likely benign
Select item 2622035	NM_001205019.2(GK):c.844A>G (p.Lys282Glu)	GK, GK-AS1 (K282E +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
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 590223	NM_001205019.2(GK):c.1113G>A (p.Ser371=)	GK	Single nucleotide variant (synonymous variant)	not provided +1 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	GLikely pathogenic
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 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 3281480	NM_001205019.2(GK):c.1441G>A (p.Glu481Lys)	GK (E503K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign