C12orf54[gene] - ClinVar

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Items: 21

	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 2307969	NM_012404.3(ANP32D):c.40A>G (p.Arg14Gly)	ANP32D, C12orf54 (R14G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522721	NM_012404.3(ANP32D):c.44C>A (p.Thr15Lys)	ANP32D, C12orf54 (T15K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593857	NM_012404.3(ANP32D):c.52G>A (p.Asp18Asn)	ANP32D, C12orf54 (D18N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320192	NM_012404.3(ANP32D):c.59A>G (p.Lys20Arg)	ANP32D, C12orf54 (K20R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593351	NM_012404.3(ANP32D):c.94G>T (p.Gly32Cys)	ANP32D, C12orf54 (G32C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216481	NM_012404.3(ANP32D):c.100T>A (p.Leu34Met)	ANP32D, C12orf54 (L34M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524627	NM_012404.3(ANP32D):c.205C>A (p.Leu69Ile)	ANP32D, C12orf54 (L69I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607586	NM_012404.3(ANP32D):c.307C>T (p.Leu103Phe)	ANP32D, C12orf54 (L103F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530469	NM_012404.3(ANP32D):c.361T>A (p.Phe121Ile)	ANP32D, C12orf54 (F121I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460230	NM_012404.3(ANP32D):c.380A>T (p.Asn127Ile)	ANP32D, C12orf54 (N127I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476992	NM_012404.3(ANP32D):c.386A>G (p.Asn129Ser)	ANP32D, C12orf54 (N129S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402838	NM_152319.4(C12orf54):c.156T>A (p.Asp52Glu)	C12orf54 (D52E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1710515	GRCh37/hg19 12q12-13.11(chr12:44661149-48921204)x1	AMIGO2, ANO6 +27 more	Copy number loss	not provided	GPathogenic
Select item 1527702	GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)	ABCD2, ADAMTS20 +72 more	Copy number gain	not specified	GPathogenic
Select item 1048618	GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3	PPHLN1, PRICKLE1 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 524190	NC_000012.11:g.26370251_54361538inv	AAAS, ABCD2 +212 more	Inversion	not specified	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
Select item 221992	GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	ABCD2, ADAMTS20 +92 more	Copy number gain	See cases	GPathogenic

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Items: 21