"GeneDx"[submitter] AND "C12orf60"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146005	GRCh38/hg38 12p13.2-12.3(chr12:12363649-15280588)x1	APOLD1, ARHGDIB +137 more	Copy number loss	See cases	GPathogenic
Select item 58986	GRCh38/hg38 12p13.2-12.3(chr12:12388842-15540422)x1	APOLD1, ARHGDIB +140 more	Copy number loss	See cases	GPathogenic
Select item 379706	NM_004963.4(GUCY2C):c.2086G>T (p.Glu696Ter)	C12orf60, GUCY2C (E696*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1712127	NM_016312.3(WBP11):c.1505C>T (p.Pro502Leu)	WBP11, C12orf60 (P502L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574865	NM_016312.3(WBP11):c.1298G>T (p.Gly433Val)	C12orf60, WBP11 (G433V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576951	NM_016312.3(WBP11):c.1237_1251del (p.Leu413_Pro417del)	C12orf60, WBP11	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2574509	NM_016312.3(WBP11):c.972G>A (p.Met324Ile)	C12orf60, WBP11 (M324I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499866	NM_016312.3(WBP11):c.386A>G (p.Lys129Arg)	C12orf60, WBP11 (K129R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574283	NM_016312.3(WBP11):c.280C>G (p.Arg94Gly)	C12orf60, WBP11 (R94G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500508	NM_016312.3(WBP11):c.99C>G (p.Asn33Lys)	WBP11, C12orf60 (N33K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic