ClinVar for Gene (Select 101060321) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2647690	NM_032258.5(TBC1D3F):c.1196G>A (p.Arg399Gln)	TBC1D3F, TBC1D3G (R399Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2647689	NM_032258.5(TBC1D3F):c.1439T>C (p.Val480Ala)	TBC1D3F, TBC1D3G (V480A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2647688	NM_032258.5(TBC1D3F):c.1451C>A (p.Ser484Tyr)	TBC1D3F, TBC1D3G (S484Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2647687	NM_032258.5(TBC1D3F):c.1518C>T (p.Phe506=)	TBC1D3F, TBC1D3G	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 2380270	NM_001001417.7(TBC1D3B):c.1395G>C (p.Glu465Asp)	TBC1D3B, TBC1D3G (E465D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373415	NM_001001417.7(TBC1D3B):c.1196G>A (p.Arg399Gln)	TBC1D3B, TBC1D3G (R399Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350553	NM_001001417.7(TBC1D3B):c.1121C>T (p.Pro374Leu)	TBC1D3B, TBC1D3G (P374L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345611	NM_001001417.7(TBC1D3B):c.445A>G (p.Ile149Val)	TBC1D3B, TBC1D3G (I149V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2344213	NM_001001417.7(TBC1D3B):c.1144C>T (p.Leu382Phe)	TBC1D3B, TBC1D3G (L382F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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	TBC1D3F, TBC1D3G +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 150210	GRCh37/hg19 17q12(chr17:34431767-34611396)x3	CCL3L3, CCL4L2 +2 more	Copy number gain	See cases	GLikely benign
Select item 150171	GRCh37/hg19 17q12(chr17:34508117-34611396)x3	CCL3L3, CCL4L2 +2 more	Copy number gain	See cases	GLikely benign
Select item 149931	GRCh37/hg19 17q12(chr17:34526541-34611396)x3	CCL4L2, LOC124905374 +1 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 147195	GRCh37/hg19 17q12(chr17:34437505-34611377)x1	CCL3L3, CCL4L2 +2 more	Copy number loss	See cases	GBenign
Select item 146939	GRCh37/hg19 17q12(chr17:34508117-34611388)x3	CCL3L3, CCL4L2 +2 more	Copy number gain	See cases	GBenign
Select item 60470	GRCh37/hg19 17q12(chr17:34508117-36173763)x1	MIR2909, MIR378J +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

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Links from Gene

Items: 25