"Revvity Omics, Revvity"[submitter] AND "ATN1"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2439322	NM_001940.4(ATN1):c.-162-2712A>G	ATN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2439320	NM_001940.4(ATN1):c.710G>A (p.Gly237Glu)	ATN1 (G237E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2278575	NM_001940.4(ATN1):c.824C>T (p.Pro275Leu)	ATN1 (P275L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2439317	NM_001940.4(ATN1):c.1136G>T (p.Ser379Ile)	ATN1 (S379I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2346578	NM_001940.4(ATN1):c.1265A>G (p.Asn422Ser)	ATN1 (N422S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2439319	NM_001940.4(ATN1):c.1509_1511dup (p.His504_Gly505insHis)	ATN1, LOC109461484	Duplication (inframe_insertion)	not provided	GConflicting classifications of pathogenicity
Select item 1690746	NM_001940.4(ATN1):c.1865C>G (p.Ala622Gly)	ATN1 (A622G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2439324	NM_001940.4(ATN1):c.2090T>C (p.Leu697Pro)	ATN1 (L697P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2230501	NM_001940.4(ATN1):c.2158C>T (p.Pro720Ser)	ATN1 (P720S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2688627	NM_001940.4(ATN1):c.2441A>G (p.Glu814Gly)	ATN1 (E806G +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2253964	NM_001940.4(ATN1):c.2731G>A (p.Val911Met)	ATN1 (V911M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2439325	NM_001940.4(ATN1):c.2930T>C (p.Leu977Pro)	ATN1 (L977P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439318	NM_001940.4(ATN1):c.3250G>A (p.Ala1084Thr)	ATN1 (A1084T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439323	NM_001940.4(ATN1):c.3454C>T (p.Arg1152Cys)	ATN1 (R1152C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance