TBC1D29P[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154960	GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1	ABHD15, ADAP2 +202 more	Copy number loss	See cases	GPathogenic
Select item 3174583	NR_172920.1(TBC1D29P):n.172G>T	TBC1D29P	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3174584	NR_172920.1(TBC1D29P):n.175T>A	TBC1D29P	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2597520	NR_172920.1(TBC1D29P):n.199G>C	TBC1D29P	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3174586	NR_172920.1(TBC1D29P):n.211G>T	TBC1D29P	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2459299	NR_172920.1(TBC1D29P):n.228A>G	TBC1D29P	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3324687	NR_172920.1(TBC1D29P):n.244C>T	TBC1D29P	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2620665	NR_172920.1(TBC1D29P):n.519C>T	TBC1D29P	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3174585	NR_172920.1(TBC1D29P):n.520G>T	TBC1D29P	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3324686	NR_172920.1(TBC1D29P):n.570C>T	TBC1D29P	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3324685	NR_172920.1(TBC1D29P):n.571G>T	TBC1D29P	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3242851	NC_000017.10:g.(?_28524804)_(29624377_?)del	ADAP2, ATAD5 +11 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 3063487	GRCh37/hg19 17q11.2(chr17:28277040-30903559)x1	ADAP2, ATAD5 +28 more	Copy number loss	not specified	GPathogenic
Select item 2685600	GRCh37/hg19 17q11.2(chr17:28387597-30812008)x1	ADAP2, ATAD5 +26 more	Copy number loss	not provided	GPathogenic
Select item 2427184	NC_000017.10:g.(?_26684694)_(29701173_?)dup	ABHD15, ADAP2 +54 more	Duplication	not provided	GUncertain significance
Select item 2422714	NC_000017.10:g.(?_27573882)_(29576157_?)del	CORO6, ABHD15 +21 more	Deletion	Neurofibromatosis, type 1	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 624545	GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	ABHD15, ADAP2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 523166	GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1	LYRM9, MIR144 +72 more	Copy number loss	Mitogen-activated protein kinase kinase inhibitor response	Gdrug response
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic

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Items: 21