C17orf50[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147860	GRCh38/hg38 17q12(chr17:35129859-35767049)x3	AP2B1, C17orf50 +46 more	Copy number gain	See cases	GUncertain significance
Select item 2246976	NM_145272.4(C17orf50):c.76G>A (p.Glu26Lys)	C17orf50, MMP28 (E26K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349593	NM_145272.4(C17orf50):c.185G>A (p.Gly62Asp)	C17orf50, LOC130060736 +1 more (G62D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358508	NM_145272.4(C17orf50):c.225G>C (p.Gln75His)	C17orf50, LOC130060736 +1 more (Q75H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301989	NM_145272.4(C17orf50):c.314T>C (p.Leu105Pro)	C17orf50, LOC130060736 +1 more (L105P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253283	NM_145272.4(C17orf50):c.356C>T (p.Pro119Leu)	C17orf50, LOC130060736 +1 more (P119L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248117	NM_145272.4(C17orf50):c.386C>T (p.Pro129Leu)	C17orf50, LOC130060736 +1 more (P129L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407592	NM_145272.4(C17orf50):c.511G>C (p.Ala171Pro)	C17orf50, MMP28 (A171P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574697	GRCh37/hg19 17q11.2-12(chr17:30572862-35843988)	AATF, ACACA +66 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 564429	GRCh37/hg19 17q12(chr17:32351496-34455576)x1	AP2B1, ASIC2 +40 more	Copy number loss	not provided	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic