ClinVar for Gene (Select 102724862) - ClinVar - NCBI

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Links from Gene

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3026214	NM_001291463.2(TBC1D3I):c.376G>A (p.Gly126Arg)	TBC1D3I (G126R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3026038	NM_001291463.2(TBC1D3I):c.352G>C (p.Glu118Gln)	TBC1D3I (E118Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2647683	NM_001291463.2(TBC1D3I):c.206G>T (p.Arg69Leu)	TBC1D3I (R69L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2647682	NM_001291463.2(TBC1D3I):c.315C>T (p.Asn105=)	TBC1D3I	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2499653	GRCh38/hg38 17q12(chr17:36138501-37924067)	LOC126862543, LOC126862544 +41 more	Copy number gain	Anomalous pulmonary venous return	GPathogenic
Select item 545219	NC_000017.11:g.(?_36143765)_(37995300_?)del	AATF, ACACA +42 more	Deletion	Autism	GPathogenic
Select item 160929	GRCh37/hg19 17q12(chr17:34508117-36248918)x3	AATF, ACACA +39 more	Copy number gain	See cases	GPathogenic
Select item 153446	GRCh37/hg19 17q12(chr17:34437482-36244358)x3	AATF, ACACA +39 more	Copy number gain	See cases	GLikely pathogenic
Select item 151517	GRCh37/hg19 17q12(chr17:34360168-36248859)x1	AATF, ACACA +44 more	Copy number loss	See cases	GPathogenic
Select item 150667	GRCh38/hg38 17q12(chr17:36167804-36421711)x3	CCL3L3, CCL4L2 +4 more	Copy number gain	See cases	GLikely benign
Select item 149439	GRCh38/hg38 17q12(chr17:36104374-36421711)x3	CCL3L3, CCL4 +5 more	Copy number gain	See cases	GLikely benign
Select item 60470	GRCh37/hg19 17q12(chr17:34508117-36173763)x1	AATF, ACACA +38 more	Copy number loss	See cases	GPathogenic
Select item 58167	GRCh37/hg19 17q12(chr17:34360168-36209228)x3	AATF, ACACA +44 more	Copy number gain	See cases	GPathogenic
Select item 58166	GRCh37/hg19 17q12(chr17:34310998-36297053)x3	AATF, ACACA +48 more	Copy number gain	See cases	GPathogenic
Select item 32504	GRCh37/hg19 17q12(chr17:34508117-36248918)x3	AATF, ACACA +39 more	Copy number gain	See cases	GPathogenic