Related gene-specific medical variations for Gene (Select 54617) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3033466	NM_017553.3(INO80):c.3027T>C (p.Phe1009=)	INO80, INO80-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	INO80-related condition	GLikely benign
Select item 2689248	NM_017553.3(INO80):c.1724C>T (p.Pro575Leu)	INO80 (P575L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2688066	NM_017553.3(INO80):c.3274+34G>C	INO80, INO80-AS1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2513830	NM_017553.3(INO80):c.3271C>G (p.Pro1091Ala)	INO80, INO80-AS1 (P1091A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2404205	NM_017553.3(INO80):c.3007C>T (p.Leu1003Phe)	INO80-AS1, INO80 (L1003F)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2371071	NM_017553.3(INO80):c.2990C>T (p.Ser997Leu)	INO80-AS1, INO80 (S997L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2353519	NM_017553.3(INO80):c.3085C>G (p.Arg1029Gly)	INO80, INO80-AS1 (R1029G)	Single nucleotide variant (missense variant +1 more)	INO80-related condition +1 more	GUncertain significance
Select item 2324469	NM_017553.3(INO80):c.2958G>C (p.Gln986His)	INO80-AS1, INO80 (Q986H)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2276935	NM_017553.3(INO80):c.3205T>C (p.Phe1069Leu)	INO80-AS1, INO80 (F1069L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2208489	NM_017553.3(INO80):c.3038C>G (p.Ala1013Gly)	INO80, INO80-AS1 (A1013G)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 995710	NM_017553.3(INO80):c.4162G>C (p.Ala1388Pro)	INO80 (A1388P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 71887	NM_017553.3(INO80):c.2998C>T (p.Arg1000Cys)	INO80, INO80-AS1 (R1000C)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance