"Illumina Laboratory Services, Illumina"[submitter] AND "METTL8"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 332254	NM_025000.4(DCAF17):c.-243C>G	DCAF17, METTL8	Single nucleotide variant (5 prime UTR variant +2 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 893003	NM_025000.4(DCAF17):c.-232C>T	DCAF17, METTL8	Single nucleotide variant (5 prime UTR variant +2 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 893223	NM_025000.4(DCAF17):c.-222G>A	DCAF17, METTL8	Single nucleotide variant (5 prime UTR variant +2 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 893224	NM_025000.4(DCAF17):c.-213C>T	DCAF17, METTL8	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 893225	NM_025000.4(DCAF17):c.-212C>T	DCAF17, METTL8	Single nucleotide variant (5 prime UTR variant +2 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 332255	NM_025000.4(DCAF17):c.-206C>G	DCAF17, METTL8	Single nucleotide variant (5 prime UTR variant +2 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 332256	NM_025000.4(DCAF17):c.-204C>T	DCAF17, METTL8	Single nucleotide variant (5 prime UTR variant +2 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 332257	NM_025000.4(DCAF17):c.-198T>C	DCAF17, METTL8	Single nucleotide variant (5 prime UTR variant +2 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 332258	NM_025000.4(DCAF17):c.-111G>T	DCAF17, METTL8	Single nucleotide variant (5 prime UTR variant +2 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 332259	NM_025000.4(DCAF17):c.-9C>G	DCAF17, METTL8	Single nucleotide variant (5 prime UTR variant +2 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 894073	NM_025000.4(DCAF17):c.27G>A (p.Val9=)	DCAF17, METTL8	Single nucleotide variant (synonymous variant +2 more)	Woodhouse-Sakati syndrome	GConflicting classifications of pathogenicity
Select item 698382	NM_025000.4(DCAF17):c.95A>C (p.Asn32Thr)	DCAF17, METTL8 (N32T)	Single nucleotide variant (missense variant +2 more)	Woodhouse-Sakati syndrome	GConflicting classifications of pathogenicity