C17orf67[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 59590	GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1	ABCC3, ACSF2 +196 more	Copy number loss	See cases	GPathogenic
Select item 146083	GRCh38/hg38 17q22(chr17:56683505-58084939)x1	AKAP1, AKAP1-DT +83 more	Copy number loss	See cases	GPathogenic
Select item 252528	NM_001085430.4(C17orf67):c.109C>T (p.Arg37Ter)	C17orf67 (R37*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 1412084	NC_000017.10:g.(?_54671585)_(59938900_?)dup	TEX14, TRIM25 +54 more	Duplication	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 564455	GRCh37/hg19 17q22(chr17:54584318-55220914)x1	NOG, COIL +5 more	Copy number loss	not provided	GPathogenic
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
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 394267	GRCh37/hg19 17q22(chr17:52189051-57477162)x3	AKAP1, ANKFN1 +42 more	Copy number gain	See cases	GPathogenic
Select item 394158	GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3	AKAP1, ANKFN1 +65 more	Copy number gain	See cases	GPathogenic