C12orf56[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150076	GRCh38/hg38 12q14.1-14.3(chr12:60907151-66568077)x1	AVPR1A, C12orf56 +144 more	Copy number loss	See cases	GPathogenic
Select item 3235055	GRCh38/hg38 12q14.2-15(chr12:63871239-67314524)	LOC124629394, LOC124629395 +108 more	Copy number loss	Silver-Russell syndrome 5	GUncertain significance
Select item 2242869	NM_001170633.2(C12orf56):c.1825C>T (p.Pro609Ser)	C12orf56 (P449S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404266	NM_001170633.2(C12orf56):c.1696A>G (p.Lys566Glu)	C12orf56 (K406E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233463	NM_001170633.2(C12orf56):c.1135A>T (p.Ile379Leu)	C12orf56 (I219L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3135668	NM_001170633.2(C12orf56):c.740G>A (p.Gly247Glu)	C12orf56 (G247E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397461	NM_001170633.2(C12orf56):c.310C>T (p.Arg104Cys)	C12orf56 (R104C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243002	NM_001170633.2(C12orf56):c.169G>T (p.Asp57Tyr)	C12orf56 (D57Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329854	NM_001170633.2(C12orf56):c.109G>A (p.Glu37Lys)	C12orf56 (E37K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244245	NC_000012.11:g.(?_64173741)_(68052493_?)del	C12orf56, CAND1 +18 more	Deletion	Mucopolysaccharidosis, MPS-III-D	GPathogenic
Select item 2685437	GRCh37/hg19 12q14.1-15(chr12:61755618-70035424)x1	AVPR1A, C12orf56 +40 more	Copy number loss	not provided	GPathogenic
Select item 1879249	GRCh37/hg19 12q14.2-15(chr12:64609458-70352103)x1	BEST3, C12orf56 +34 more	Copy number loss	not provided	GPathogenic
Select item 832933	NC_000012.12:g.(?_63779951)_(64501391_?)dup	C12orf56, XPOT +4 more	Duplication	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic