"GeneDx"[submitter] AND "THOC6"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 59428	GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1	ADCY9, ALG1 +262 more	Copy number loss	See cases	GPathogenic
Select item 3368495	NM_024339.5(THOC6):c.156-13G>A	THOC6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1276705	NM_024339.5(THOC6):c.220+10C>G	THOC6	Single nucleotide variant (intron variant)	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome +1 more	GBenign
Select item 521347	NM_024339.5(THOC6):c.298T>A (p.Trp100Arg)	THOC6 (W100R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 1684068	NM_024339.5(THOC6):c.343del (p.Arg115fs)	THOC6 (R115fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 1239904	NM_024339.5(THOC6):c.390C>T (p.Asn130=)	THOC6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 561208	NM_024339.5(THOC6):c.569G>A (p.Gly190Glu)	THOC6 (G190E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 521348	NM_024339.5(THOC6):c.700G>C (p.Val234Leu)	THOC6 (V234L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 521349	NM_024339.5(THOC6):c.824G>A (p.Gly275Asp)	THOC6 (G275D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 253470	GRCh37/hg19 16p13.3(chr16:2867891-3942436)x3	BICDL2, C16orf90 +36 more	Copy number gain	See cases	GPathogenic