ClinVar for MedGen (Select 1632232) - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2584481	NM_006721.4(ADK):c.916C>T (p.Gln306Ter)	ADK (Q232* +4 more)	Single nucleotide variant (nonsense +1 more)	Adenosine kinase deficiency	GLikely pathogenic
Select item 2584480	NM_006721.4(ADK):c.642_645del (p.Ser215fs)	ADK, LOC102723439 (S180fs +2 more)	Microsatellite (frameshift variant +1 more)	Adenosine kinase deficiency	GLikely pathogenic
Select item 2444120	NM_006721.4(ADK):c.374T>C (p.Val125Ala)	ADK (V108A +2 more)	Single nucleotide variant (missense variant)	Adenosine kinase deficiency	GUncertain significance
Select item 1189011	NM_006721.4(ADK):c.878-71T>C	ADK	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 915419	NM_006721.4(ADK):c.71A>T (p.Asn24Ile)	ADK (N7I +1 more)	Single nucleotide variant (missense variant)	Adenosine kinase deficiency	GUncertain significance
Select item 879775	NM_006721.4(ADK):c.66-23885T>A	ADK (S3T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 879774	NM_006721.4(ADK):c.66-23967G>T	ADK	Single nucleotide variant (5 prime UTR variant +1 more)	Adenosine kinase deficiency	GUncertain significance
Select item 879453	NM_006721.4(ADK):c.*729T>G	ADK	Single nucleotide variant (3 prime UTR variant)	Adenosine kinase deficiency	GUncertain significance
Select item 879390	NM_006721.4(ADK):c.66-24133G>A	ADK	Single nucleotide variant (intron variant)	Adenosine kinase deficiency	GUncertain significance
Select item 879389	NM_006721.4(ADK):c.66-24289G>A	ADK	Single nucleotide variant (intron variant)	Adenosine kinase deficiency	GLikely benign
Select item 877988	NM_006721.4(ADK):c.*349T>C	ADK	Single nucleotide variant (3 prime UTR variant)	Adenosine kinase deficiency	GUncertain significance
Select item 877987	NM_006721.4(ADK):c.*296G>A	ADK	Single nucleotide variant (3 prime UTR variant)	Adenosine kinase deficiency	GUncertain significance
Select item 877986	NM_006721.4(ADK):c.*114T>C	ADK	Single nucleotide variant (3 prime UTR variant)	Adenosine kinase deficiency	GUncertain significance
Select item 877827	NM_006721.4(ADK):c.494A>C (p.Lys165Thr)	ADK (K130T +2 more)	Single nucleotide variant (missense variant)	Adenosine kinase deficiency	GUncertain significance
Select item 877826	NM_006721.4(ADK):c.429C>T (p.Cys143=)	ADK	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 802589	NM_006721.4(ADK):c.1031C>T (p.Ala344Val)	ADK (A327V +4 more)	Single nucleotide variant (missense variant +1 more)	Adenosine kinase deficiency	GLikely pathogenic
Select item 802588	NM_006721.4(ADK):c.727-8del	ADK	Deletion (intron variant)	Adenosine kinase deficiency +1 more	GBenign
Select item 800875	NM_006721.4(ADK):c.813dup (p.Asn272fs)	ADK (N272fs +4 more)	Duplication (frameshift variant +1 more)	Adenosine kinase deficiency	GLikely pathogenic
Select item 716932	NM_006721.4(ADK):c.987T>C (p.Ser329=)	ADK (L291P)	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 445533	NM_006721.4(ADK):c.195-18A>G	ADK	Single nucleotide variant (intron variant)	Adenosine kinase deficiency +1 more	GBenign/Likely benign
Select item 300848	NM_006721.4(ADK):c.*740C>T	ADK	Single nucleotide variant (3 prime UTR variant)	Adenosine kinase deficiency	GLikely benign
Select item 300847	NM_006721.4(ADK):c.*648C>T	ADK	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 300846	NM_006721.4(ADK):c.*375A>G	ADK	Single nucleotide variant (3 prime UTR variant)	Adenosine kinase deficiency	GLikely benign
Select item 300845	NM_006721.4(ADK):c.*337T>G	ADK	Single nucleotide variant (3 prime UTR variant)	Adenosine kinase deficiency	GUncertain significance
Select item 300844	NM_006721.4(ADK):c.*157G>A	ADK	Single nucleotide variant (3 prime UTR variant)	Adenosine kinase deficiency	GUncertain significance
Select item 300843	NM_006721.4(ADK):c.1088G>A (p.Ter363=)	ADK	Single nucleotide variant (synonymous variant +1 more)	Adenosine kinase deficiency +1 more	GBenign/Likely benign
Select item 300842	NM_006721.4(ADK):c.763-9T>C	ADK	Single nucleotide variant (intron variant)	Adenosine kinase deficiency	GUncertain significance
Select item 300841	NM_006721.4(ADK):c.727-11T>C	ADK	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 300840	NM_006721.4(ADK):c.726+11T>G	ADK, LOC102723439	Single nucleotide variant (intron variant)	Adenosine kinase deficiency +1 more	GBenign/Likely benign
Select item 300839	NM_006721.4(ADK):c.705T>C (p.Asp235=)	ADK, LOC102723439	Single nucleotide variant (synonymous variant +1 more)	Adenosine kinase deficiency +1 more	GBenign
Select item 300838	NM_006721.4(ADK):c.441C>T (p.Asp147=)	ADK	Single nucleotide variant (synonymous variant)	Adenosine kinase deficiency	GUncertain significance
Select item 300837	NM_006721.4(ADK):c.259A>G (p.Ile87Val)	ADK (I70V +2 more)	Single nucleotide variant (missense variant)	Adenosine kinase deficiency +1 more	GUncertain significance
Select item 300836	NM_006721.4(ADK):c.220A>G (p.Lys74Glu)	ADK (K57E +2 more)	Single nucleotide variant (missense variant)	Adenosine kinase deficiency +1 more	GUncertain significance
Select item 300835	NM_006721.4(ADK):c.66-23911C>T	ADK	Single nucleotide variant (5 prime UTR variant +1 more)	Adenosine kinase deficiency +1 more	GBenign
Select item 300834	NM_006721.4(ADK):c.66-23966T>C	ADK	Single nucleotide variant (5 prime UTR variant +1 more)	Adenosine kinase deficiency	GUncertain significance
Select item 300833	NM_006721.4(ADK):c.66-24009G>T	ADK	Single nucleotide variant (intron variant)	Adenosine kinase deficiency	GUncertain significance
Select item 300832	NM_006721.4(ADK):c.66-24083G>C	ADK	Single nucleotide variant (intron variant)	Adenosine kinase deficiency	GUncertain significance
Select item 300831	NM_006721.4(ADK):c.66-24106T>C	ADK	Single nucleotide variant (intron variant)	Adenosine kinase deficiency	GLikely benign
Select item 300830	NM_006721.4(ADK):c.66-24151A>T	ADK	Single nucleotide variant (intron variant)	Adenosine kinase deficiency	GUncertain significance
Select item 191003	NM_006721.4(ADK):c.741T>A (p.Phe247Leu)	ADK (F247L +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 29605	NM_006721.4(ADK):c.89G>A (p.Gly30Glu)	ADK (G13E +1 more)	Single nucleotide variant (missense variant)	Adenosine kinase deficiency	GPathogenic
Select item 29604	NM_006721.4(ADK):c.704A>C (p.Asp235Ala)	ADK, LOC102723439 (D218A +2 more)	Single nucleotide variant (missense variant +1 more)	Adenosine kinase deficiency	GPathogenic
Select item 29603	NM_006721.4(ADK):c.953C>A (p.Ala318Glu)	ADK (A301E +5 more)	Single nucleotide variant (missense variant)	Adenosine kinase deficiency	GPathogenic

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Items: 43