"GeneDx"[submitter] AND "ATIC"[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 1212591	NM_212482.4(FN1):c.*130C>T	ATIC, FN1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1203210	NM_212482.4(FN1):c.7363-30A>G	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191771	NM_212482.4(FN1):c.7363-44C>T	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209464	NM_212482.4(FN1):c.7363-72dup	ATIC, FN1	Duplication (intron variant)	not provided	GLikely benign
Select item 1201817	NM_212482.4(FN1):c.7362+97_7362+98dup	ATIC, FN1	Duplication (intron variant)	not provided	GLikely benign
Select item 1191483	NM_212482.4(FN1):c.7362+107del	ATIC, FN1	Deletion (intron variant)	not provided	GLikely benign
Select item 1211335	NM_212482.4(FN1):c.7362+62C>G	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1222395	NM_212482.4(FN1):c.7362+50T>G	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1314343	NM_212482.4(FN1):c.7268A>G (p.Asn2423Ser)	FN1, ATIC (N2122S +16 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1231996	NM_212482.4(FN1):c.7252-151C>T	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231131	NM_212482.4(FN1):c.7251+201C>T	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212101	NM_212482.4(FN1):c.7251+78del	ATIC, FN1	Deletion (intron variant)	not provided	GLikely benign
Select item 1700784	NM_212482.4(FN1):c.7251+5G>T	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 789933	NM_212482.4(FN1):c.7182C>T (p.His2394=)	ATIC, FN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1169959	NM_212482.4(FN1):c.7161T>C (p.Tyr2387=)	ATIC, FN1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1285899	NM_212482.4(FN1):c.7145-142G>A	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196796	NM_212482.4(FN1):c.7144+202del	ATIC, FN1	Deletion (intron variant)	not provided	GLikely benign
Select item 1194790	NM_212482.4(FN1):c.7144+197A>C	FN1, ATIC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1254500	NM_212482.4(FN1):c.7144+195A>G	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286015	NM_212482.4(FN1):c.7144+147A>G	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294058	NM_212482.4(FN1):c.7144+12C>G	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212163	NM_212482.4(FN1):c.7019-150A>G	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1294065	NM_212482.4(FN1):c.7019-179_7019-177del	ATIC, FN1	Deletion (intron variant)	not provided	GBenign
Select item 1288337	NM_212482.4(FN1):c.7019-178_7019-177del	ATIC, FN1	Deletion (intron variant)	not provided	GBenign
Select item 1283156	NM_212482.4(FN1):c.7019-177del	ATIC, FN1	Deletion (intron variant)	not provided	GBenign
Select item 1195110	NM_212482.4(FN1):c.7019-180_7019-177del	ATIC, FN1	Deletion (intron variant)	not provided	GLikely benign
Select item 1199645	NM_212482.4(FN1):c.7019-180_7019-179insT	ATIC, FN1	Insertion (intron variant)	not provided	GLikely benign
Select item 1236603	NM_212482.4(FN1):c.7019-180A>T	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189251	NM_212482.4(FN1):c.7019-181_7019-180insT	ATIC, FN1	Insertion (intron variant)	not provided	GLikely benign
Select item 1226173	NM_212482.4(FN1):c.7019-181A>T	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265067	NM_212482.4(FN1):c.7019-274G>A	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194074	NM_212482.4(FN1):c.7019-303C>T	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208649	NM_212482.4(FN1):c.7018+314T>C	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283085	NM_212482.4(FN1):c.7018+287G>T	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254604	NM_212482.4(FN1):c.7018+223A>G	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1273035	NM_212482.4(FN1):c.7018+30G>A	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228251	NM_212482.4(FN1):c.7018+30G>T	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1302503	NM_212482.4(FN1):c.6908T>C (p.Val2303Ala)	ATIC, FN1 (V2002A +16 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1254150	NM_212482.4(FN1):c.6854-61_6854-59del	ATIC, FN1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1254003	NM_212482.4(FN1):c.6854-179C>T	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1264809	NM_212482.4(FN1):c.6854-198G>A	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262024	NM_212482.4(FN1):c.6854-228G>T	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210957	NM_212482.4(FN1):c.6854-314G>A	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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Items: 44