C3orf18[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 2232883	NM_016210.5(C3orf18):c.241T>C (p.Tyr81His)	C3orf18 (Y61H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260072	NM_016210.5(C3orf18):c.173G>T (p.Gly58Val)	C3orf18 (G58V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355730	NM_016210.5(C3orf18):c.80C>T (p.Thr27Ile)	C3orf18 (T27I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209385	NM_016173.5(HEMK1):c.17G>A (p.Arg6Gln)	C3orf18, HEMK1 (R6Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343235	NM_016173.5(HEMK1):c.65G>A (p.Arg22Gln)	C3orf18, HEMK1 (R22Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3105229	NM_016173.5(HEMK1):c.110G>A (p.Gly37Glu)	C3orf18, HEMK1 (G37E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205222	NM_016173.5(HEMK1):c.202G>A (p.Val68Met)	C3orf18, HEMK1 (V68M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3105230	NM_016173.5(HEMK1):c.245C>T (p.Pro82Leu)	C3orf18, HEMK1 (P82L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464090	NM_016173.5(HEMK1):c.262C>G (p.Pro88Ala)	C3orf18, HEMK1 (P88A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287664	NM_016173.5(HEMK1):c.272C>T (p.Ser91Phe)	C3orf18, HEMK1 (S91F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105231	NM_016173.5(HEMK1):c.307C>T (p.Arg103Cys)	C3orf18, HEMK1 (R103C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105232	NM_016173.5(HEMK1):c.308G>A (p.Arg103His)	C3orf18, HEMK1 (R103H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381041	NM_016173.5(HEMK1):c.400C>T (p.Arg134Trp)	C3orf18, HEMK1 (R134W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1511582	NC_000003.11:g.(?_50540629)_(50655235_?)dup	C3orf18, CACNA2D2 +3 more	Duplication	not provided	GUncertain significance
Select item 1456135	NC_000003.11:g.(?_49547968)_(50685477_?)del	AMIGO3, APEH +38 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 1432141	NC_000003.11:g.(?_50431520)_(50685477_?)dup	CACNA2D2, CISH +3 more	Duplication	not provided	GUncertain significance
Select item 980510	GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1	MST1, ARIH2 +64 more	Copy number loss	not provided	GPathogenic
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	AMT, APEH +177 more	Copy number gain	not provided	GPathogenic
Select item 562768	GRCh37/hg19 3p21.31-21.2(chr3:50435928-50732729)x3	CISH, DOCK3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic

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Items: 23