Related gene-specific medical variations for Gene (Select 203228) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362477	NM_018325.5(C9orf72):c.1191C>G (p.Phe397Leu)	C9orf72 (F397L)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GUncertain significance
Select item 3065775	NM_018325.5(C9orf72):c.1048C>T (p.Gln350Ter)	C9orf72 (Q350*)	Single nucleotide variant (nonsense)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GUncertain significance
Select item 2572602	NC_000009.12:g.27536399C>T	C9orf72	Single nucleotide variant	Autism spectrum disorder	GUncertain significance
Select item 2439621	NM_018325.5(C9orf72):c.1055C>G (p.Thr352Arg)	C9orf72 (T352R)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GUncertain significance
Select item 1343331	NC_000009.12:g.27573529_27573534GGCCCC[24_30]	C9orf72, LOC109504728 +1 more	Microsatellite	Amyotrophic lateral sclerosis	GUncertain significance
Select item 1343330	NC_000009.12:g.27573529_27573534GGCCCC[60_?]	C9orf72, LOC109504728 +1 more	Microsatellite	Amyotrophic lateral sclerosis	GPathogenic
Select item 183034	NG_031977.1:g.(5321_5338)ins(60_?)	C9orf72, LOC109504728 +1 more	Insertion	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GPathogenic
Select item 183033	NM_001256054.2(C9orf72):c.-45+163_-45+180GGGGCC(2_25)	C9orf72, LOC109504728 +1 more	Microsatellite	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GBenign
Select item 31151	NM_001256054.1(C9orf72):c.-45+163GGGGCC[>24]	C9orf72, LOC109504728 +1 more	Microsatellite	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GPathogenic