Related gene-specific medical variations for Gene (Select 9984) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3325925	NM_005131.3(THOC1):c.38C>T (p.Ala13Val)	LOC130062072, THOC1 (A13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325924	NM_005131.3(THOC1):c.31C>T (p.Pro11Ser)	LOC130062072, THOC1 (P11S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391567	NM_005131.3(THOC1):c.49T>G (p.Phe17Val)	LOC130062072, THOC1 (F17V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328390	NM_005131.3(THOC1):c.25A>C (p.Ser9Arg)	LOC130062072, THOC1 (S9R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 979526	GRCh37/hg19 18p11.32(chr18:224862-304068)x1	THOC1	Copy number loss	not provided	GLikely benign

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