ClinVar for MedGen (Select 332474) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2439310	NM_004044.7(ATIC):c.131delinsGCA (p.Ala44fs)	ATIC (A44fs)	Indel (frameshift variant)	AICA-ribosiduria	GUncertain significance
Select item 1192371	NM_004044.7(ATIC):c.1503+48A>T	ATIC	Single nucleotide variant (intron variant)	AICA-ribosiduria +1 more	GBenign
Select item 1192370	NM_004044.7(ATIC):c.1228-30A>G	ATIC	Single nucleotide variant (intron variant)	AICA-ribosiduria +1 more	GBenign
Select item 1192369	NM_004044.7(ATIC):c.1098+60C>G	ATIC	Single nucleotide variant (intron variant)	AICA-ribosiduria +1 more	GBenign
Select item 1192368	NM_004044.7(ATIC):c.380-19A>C	ATIC	Single nucleotide variant (intron variant)	AICA-ribosiduria +1 more	GBenign
Select item 1192367	NM_004044.7(ATIC):c.147-111A>T	ATIC	Single nucleotide variant (intron variant)	AICA-ribosiduria +1 more	GBenign
Select item 1192366	NM_004044.7(ATIC):c.-59T>G	ATIC	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 1192365	NM_004044.7(ATIC):c.-218A>G	ATIC	Single nucleotide variant	not provided +1 more	GBenign
Select item 1030737	NM_004044.7(ATIC):c.1474G>T (p.Asp492Tyr)	ATIC (D492Y)	Single nucleotide variant (missense variant)	AICA-ribosiduria	GUncertain significance
Select item 801894	NM_004044.7(ATIC):c.1085A>G (p.Tyr362Cys)	ATIC (Y362C)	Single nucleotide variant (missense variant)	AICA-ribosiduria	GLikely pathogenic
Select item 801893	NM_004044.7(ATIC):c.347C>G (p.Thr116Ser)	ATIC (T116S)	Single nucleotide variant (missense variant)	AICA-ribosiduria +1 more	GBenign
Select item 785991	NM_004044.7(ATIC):c.5C>T (p.Ala2Val)	ATIC (A2V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 784586	NM_004044.7(ATIC):c.1494C>G (p.Thr498=)	ATIC	Single nucleotide variant (synonymous variant)	AICA-ribosiduria +1 more	GBenign/Likely benign
Select item 775810	NM_004044.7(ATIC):c.1499G>A (p.Gly500Asp)	ATIC (G500D)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 666360	NM_004044.7(ATIC):c.1654A>T (p.Lys552Ter)	ATIC (K552*)	Single nucleotide variant (nonsense)	AICA-ribosiduria	GPathogenic
Select item 666359	NM_004044.7(ATIC):c.406G>A (p.Ala136Thr)	ATIC (A136T)	Single nucleotide variant (missense variant)	AICA-ribosiduria	GUncertain significance
Select item 638424	NM_004044.7(ATIC):c.548C>A (p.Ala183Glu)	ATIC (A183E)	Single nucleotide variant (missense variant)	AICA-ribosiduria +2 more	GUncertain significance
Select item 561183	NM_004044.7(ATIC):c.794del (p.Phe265fs)	ATIC (F265fs)	Deletion (frameshift variant)	AICA-ribosiduria	GUncertain significance
Select item 548528	NM_004044.7(ATIC):c.1751A>G (p.His584Arg)	ATIC (H584R)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 445428	NM_004044.7(ATIC):c.380-18G>A	ATIC	Single nucleotide variant (intron variant)	AICA-ribosiduria +1 more	GLikely benign
Select item 445305	NM_004044.7(ATIC):c.1670C>T (p.Ala557Val)	ATIC (A557V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 7811	NM_004044.7(ATIC):c.131delinsGGA (p.Ala44fs)	ATIC (A44fs)	Indel (frameshift variant)	AICA-ribosiduria	GPathogenic
Select item 7810	NM_004044.7(ATIC):c.1277A>G (p.Lys426Arg)	ATIC (K426R)	Single nucleotide variant (missense variant)	See cases +1 more	GConflicting classifications of pathogenicity

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Items: 23