Related gene-specific medical variations for Gene (Select 7156) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065210	NM_004618.5(TOP3A):c.240G>C (p.Gln80His)	TOP3A (Q80H +1 more)	Single nucleotide variant (missense variant)	Microcephaly, growth restriction, and increased sister chromatid exchange 2	GUncertain significance
Select item 2990893	NM_004618.5(TOP3A):c.45G>A (p.Arg15=)	LOC130060427, TOP3A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2838499	NM_004618.5(TOP3A):c.45G>T (p.Arg15=)	LOC130060427, TOP3A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2487979	NM_004618.5(TOP3A):c.106G>C (p.Val36Leu)	LOC130060427, TOP3A (V36L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2442040	NM_004618.5(TOP3A):c.1712G>T (p.Gly571Val)	TOP3A (G476V +1 more)	Single nucleotide variant (missense variant)	Microcephaly, growth restriction, and increased sister chromatid exchange 2	GUncertain significance
Select item 2437177	NM_004618.5(TOP3A):c.1878-550T>C	TOP3A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2332731	NM_004618.5(TOP3A):c.10C>T (p.Pro4Ser)	LOC130060427, TOP3A (P4S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2238507	NM_004618.5(TOP3A):c.149C>T (p.Ala50Val)	LOC130060427, TOP3A (A50V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2164598	NM_004618.5(TOP3A):c.134C>T (p.Ala45Val)	LOC130060427, TOP3A (A45V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 2160598	NM_004618.5(TOP3A):c.69C>T (p.Arg23=)	LOC130060427, TOP3A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2097336	NM_004618.5(TOP3A):c.67C>T (p.Arg23Cys)	LOC130060427, TOP3A (R23C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2085893	NM_004618.5(TOP3A):c.28C>T (p.Leu10Phe)	LOC130060427, TOP3A (L10F)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2053690	NM_004618.5(TOP3A):c.68G>T (p.Arg23Leu)	LOC130060427, TOP3A (R23L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2044080	NM_004618.5(TOP3A):c.113G>C (p.Cys38Ser)	LOC130060427, TOP3A (C38S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2002773	NM_004618.5(TOP3A):c.23A>G (p.Tyr8Cys)	LOC130060427, TOP3A (Y8C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1987974	NM_004618.5(TOP3A):c.72C>T (p.Ala24=)	LOC130060427, TOP3A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1978311	NM_004618.5(TOP3A):c.60C>T (p.Ala20=)	LOC130060427, TOP3A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1966858	NM_004618.5(TOP3A):c.2T>G (p.Met1Arg)	LOC130060427, TOP3A (M1R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1965719	NM_004618.5(TOP3A):c.112T>C (p.Cys38Arg)	TOP3A, LOC130060427 (C38R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1946182	NM_004618.5(TOP3A):c.43C>G (p.Arg15Gly)	LOC130060427, TOP3A (R15G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1694835	NM_004618.5(TOP3A):c.48C>G (p.Pro16=)	LOC130060427, TOP3A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1619046	NM_004618.5(TOP3A):c.135G>A (p.Ala45=)	LOC130060427, TOP3A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1557926	NM_004618.5(TOP3A):c.11C>T (p.Pro4Leu)	LOC130060427, TOP3A (P4L)	Single nucleotide variant (5 prime UTR variant +1 more)	TOP3A-related condition +1 more	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 23