"Invitae"[submitter] AND "C1orf122"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1975884	NM_024640.4(YRDC):c.364C>T (p.Leu122Phe)	C1orf122, YRDC (L122F)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2874526	NM_024640.4(YRDC):c.357C>T (p.Ala119=)	C1orf122, YRDC	Single nucleotide variant (5 prime UTR variant +1 more)	YRDC-related condition +1 more	GLikely benign
Select item 1974518	NM_024640.4(YRDC):c.301G>C (p.Ala101Pro)	C1orf122, LOC129930167 +1 more (A101P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2093449	NM_024640.4(YRDC):c.171G>A (p.Gln57=)	C1orf122, LOC129930167 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2867466	NM_024640.4(YRDC):c.165C>A (p.Ala55=)	C1orf122, LOC129930167 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2785554	NM_024640.4(YRDC):c.57G>T (p.Gly19=)	C1orf122, YRDC	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2112500	NM_024640.4(YRDC):c.52G>A (p.Val18Met)	C1orf122, YRDC (V18M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2867379	NM_024640.4(YRDC):c.27G>T (p.Gly9=)	C1orf122, YRDC	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2062173	NM_024640.4(YRDC):c.13C>T (p.Arg5Cys)	YRDC, C1orf122 (R5C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2788300	NM_024640.4(YRDC):c.12G>A (p.Ala4=)	C1orf122, YRDC	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1970922	NM_024640.4(YRDC):c.9G>C (p.Pro3=)	C1orf122, YRDC	Single nucleotide variant (5 prime UTR variant +1 more)	YRDC-related condition +1 more	GBenign/Likely benign
Select item 1971465	NM_024640.4(YRDC):c.5C>G (p.Ser2Cys)	C1orf122, YRDC (S2C)	Single nucleotide variant (5 prime UTR variant +1 more)	YRDC-related condition +1 more	GLikely benign
Select item 1974362	NM_024640.4(YRDC):c.2T>G (p.Met1Arg)	YRDC, C1orf122 (M1R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2426871	NC_000001.10:g.(?_38003349)_(38273852_?)dup	EPHA10, GNL2 +8 more	Duplication	not provided	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	CLSPN, COL8A2 +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance