"THOC2-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2437082	NM_001081550.2(THOC2):c.4135G>T (p.Val1379Phe)	THOC2 (V1379F)	Single nucleotide variant (missense variant)	X-linked intellectual disability-short stature-overweight syndrome +1 more	GUncertain significance
Select item 725187	NM_001081550.2(THOC2):c.3504-7C>T	THOC2	Single nucleotide variant (intron variant)	THOC2-related condition +1 more	GBenign
Select item 742917	NM_001081550.2(THOC2):c.3426A>G (p.Gln1142=)	THOC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 764761	NM_001081550.2(THOC2):c.3117C>T (p.Tyr1039=)	THOC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2630483	NM_001081550.2(THOC2):c.3110G>A (p.Ser1037Asn)	THOC2 (S1037N)	Single nucleotide variant (missense variant)	THOC2-related condition	GUncertain significance
Select item 3052347	NM_001081550.2(THOC2):c.2355A>G (p.Ala785=)	THOC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2629232	NM_001081550.2(THOC2):c.1997A>G (p.Asn666Ser)	THOC2 (N666S)	Single nucleotide variant (missense variant)	THOC2-related condition	GUncertain significance
Select item 2629560	NM_001081550.2(THOC2):c.1930A>G (p.Ser644Gly)	THOC2 (S644G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2631032	NM_001081550.2(THOC2):c.1512G>A (p.Met504Ile)	THOC2 (M504I)	Single nucleotide variant (missense variant)	THOC2-related condition	GUncertain significance
Select item 3043409	NM_001081550.2(THOC2):c.1428+10T>A	THOC2	Single nucleotide variant (intron variant)	THOC2-related condition	GLikely benign
Select item 3035025	NM_001081550.2(THOC2):c.822A>G (p.Leu274=)	THOC2	Single nucleotide variant (synonymous variant)	THOC2-related condition	GLikely benign
Select item 2637145	NM_001081550.2(THOC2):c.722C>T (p.Pro241Leu)	THOC2 (P241L)	Single nucleotide variant (missense variant)	THOC2-related condition	GUncertain significance
Select item 1802559	NM_001081550.2(THOC2):c.623A>G (p.Asn208Ser)	THOC2 (N208S)	Single nucleotide variant (missense variant)	THOC2-related condition +1 more	GUncertain significance
Select item 2632620	NM_001081550.2(THOC2):c.220A>G (p.Ser74Gly)	THOC2 (S74G)	Single nucleotide variant (missense variant)	THOC2-related condition	GUncertain significance
Select item 2630004	NM_001081550.2(THOC2):c.13G>A (p.Ala5Thr)	LOC130068628, THOC2 (A5T)	Single nucleotide variant (missense variant)	THOC2-related condition	GUncertain significance