Related gene-specific medical variations for Gene (Select 221322) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3220914	NM_152730.6(TBC1D32):c.3724C>T (p.Arg1242Ter)	TBC1D32 (R1242* +1 more)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome 36	GLikely pathogenic
Select item 3062892	GRCh37/hg19 6q22.31(chr6:121302768-121518788)x1	TBC1D32	Copy number loss	not specified	GUncertain significance
Select item 3062022	NM_152730.6(TBC1D32):c.769+5G>A	TBC1D32	Single nucleotide variant (intron variant)	Orofaciodigital syndrome IX	GUncertain significance
Select item 3020889	NM_152730.6(TBC1D32):c.19G>A (p.Glu7Lys)	LOC129997089, TBC1D32 (E7K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2341158	NM_152730.6(TBC1D32):c.1463C>T (p.Ser488Leu)	LOC132089326, TBC1D32 (S488L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2079307	NM_152730.6(TBC1D32):c.1433G>A (p.Ser478Asn)	LOC132089326, TBC1D32 (S478N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1905306	NM_152730.6(TBC1D32):c.1459C>T (p.His487Tyr)	LOC132089326, TBC1D32 (H487Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 980784	GRCh37/hg19 6q22.31(chr6:121381376-121595877)x1	TBC1D32	Copy number loss	not provided	GUncertain significance
Select item 980783	GRCh37/hg19 6q22.31(chr6:121512159-121625945)x1	TBC1D32	Copy number loss	not provided	GUncertain significance
Select item 814867	GRCh37/hg19 6q22.31(chr6:120309421-121401922)x4	TBC1D32	Copy number gain	not provided	GUncertain significance
Select item 813688	NM_152730.6(TBC1D32):c.3566A>G (p.Gln1189Arg)	TBC1D32 (Q1189R +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly	GUncertain significance
Select item 813554	NM_152730.6(TBC1D32):c.1913C>T (p.Ser638Phe)	TBC1D32 (S638F)	Single nucleotide variant (missense variant +1 more)	Microcephaly	GUncertain significance
Select item 813553	NM_152730.6(TBC1D32):c.1915A>C (p.Ile639Leu)	TBC1D32 (I639L)	Single nucleotide variant (missense variant +1 more)	Microcephaly	GUncertain significance
Select item 443003	GRCh37/hg19 6q22.31(chr6:120464987-121682491)x3	TBC1D32	Copy number gain	See cases	GUncertain significance
Select item 395514	GRCh37/hg19 6q22.31(chr6:121314362-121626720)x1	TBC1D32	Copy number loss	See cases	GUncertain significance