C2orf78[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 2383147	NM_001080474.3(C2orf78):c.43G>C (p.Val15Leu)	C2orf78 (V15L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344983	NM_001080474.3(C2orf78):c.718T>C (p.Ser240Pro)	C2orf78 (S240P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344982	NM_001080474.3(C2orf78):c.1048C>T (p.Pro350Ser)	C2orf78 (P350S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233844	NM_001080474.3(C2orf78):c.1586G>A (p.Arg529Lys)	C2orf78 (R529K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346295	NM_001080474.3(C2orf78):c.1624G>A (p.Ala542Thr)	C2orf78 (A542T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257810	NM_001080474.3(C2orf78):c.2719G>C (p.Glu907Gln)	C2orf78 (E907Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062659	GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1	ACTG2, ALMS1 +60 more	Copy number loss	not specified	GLikely pathogenic
Select item 2498869	GRCh37/hg19 2p13.1-12(chr2:73716761-75347894)x1	CCDC142, DCTN1 +35 more	Copy number loss	not provided	GUncertain significance
Select item 2427025	NC_000002.11:g.(?_69240632)_(74779761_?)dup	AAK1, ACTG2 +72 more	Duplication	not provided	GUncertain significance
Select item 2425561	NC_000002.11:g.(?_72359356)_(74779761_?)del	ACTG2, ALMS1 +42 more	Deletion	not provided	GPathogenic
Select item 2424629	NC_000002.11:g.(?_71004499)_(74779761_?)del	ACTG2, ALMS1 +55 more	Deletion	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526818	GRCh37/hg19 2p13.2-13.1(chr2:73477212-74065941)	ALMS1, C2orf78 +8 more	Copy number loss	not specified	GUncertain significance
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic

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Items: 20