C0342286[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	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
Select item 332260	NM_025000.4(DCAF17):c.127-15C>A	DCAF17	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 894074	NM_025000.4(DCAF17):c.133A>G (p.Thr45Ala)	DCAF17 (T45A)	Single nucleotide variant (missense variant +1 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 332261	NM_025000.4(DCAF17):c.137A>T (p.Lys46Ile)	DCAF17 (K46I)	Single nucleotide variant (missense variant +1 more)	Woodhouse-Sakati syndrome +1 more	GUncertain significance
Select item 128889	NM_025000.4(DCAF17):c.150C>T (p.Val50=)	DCAF17	Single nucleotide variant (synonymous variant +1 more)	Woodhouse-Sakati syndrome +1 more	GBenign
Select item 894075	NM_025000.4(DCAF17):c.181T>C (p.Tyr61His)	DCAF17 (Y61H)	Single nucleotide variant (missense variant +1 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 332262	NM_025000.4(DCAF17):c.184G>A (p.Glu62Lys)	DCAF17 (E62K)	Single nucleotide variant (missense variant +1 more)	Woodhouse-Sakati syndrome +2 more	GConflicting classifications of pathogenicity
Select item 696807	NM_025000.4(DCAF17):c.192A>G (p.Gly64=)	DCAF17	Single nucleotide variant (synonymous variant +1 more)	Woodhouse-Sakati syndrome +2 more	GConflicting classifications of pathogenicity
Select item 546879	NM_025000.4(DCAF17):c.209A>G (p.Asn70Ser)	DCAF17 (N70S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 332263	NM_025000.4(DCAF17):c.214C>T (p.Arg72Trp)	DCAF17 (R72W)	Single nucleotide variant (missense variant +1 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 332264	NM_025000.4(DCAF17):c.230+15A>G	DCAF17	Single nucleotide variant (intron variant)	Woodhouse-Sakati syndrome	GConflicting classifications of pathogenicity
Select item 191260	NM_025000.4(DCAF17):c.322-14C>T	DCAF17	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 332265	NM_025000.4(DCAF17):c.533G>A (p.Arg178Gln)	DCAF17 (R178Q)	Single nucleotide variant (missense variant +1 more)	Woodhouse-Sakati syndrome +3 more	GConflicting classifications of pathogenicity
Select item 128890	NM_025000.4(DCAF17):c.555T>A (p.His185Gln)	DCAF17 (H185Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 332266	NM_025000.4(DCAF17):c.579C>A (p.Phe193Leu)	DCAF17 (F193L)	Single nucleotide variant (missense variant +1 more)	DCAF17-related condition +1 more	GLikely benign
Select item 654696	NM_025000.4(DCAF17):c.581G>A (p.Arg194Gln)	DCAF17 (R194Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 444538	NM_025000.4(DCAF17):c.724G>A (p.Ala242Thr)	DCAF17 (A242T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 332267	NM_025000.4(DCAF17):c.792T>C (p.Thr264=)	DCAF17	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 332268	NM_025000.4(DCAF17):c.913A>G (p.Ile305Val)	DCAF17 (I305V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 128891	NM_025000.4(DCAF17):c.939G>A (p.Gln313=)	DCAF17	Single nucleotide variant (synonymous variant +1 more)	Woodhouse-Sakati syndrome +2 more	GBenign
Select item 893041	NM_025000.4(DCAF17):c.959G>T (p.Cys320Phe)	DCAF17 (C320F)	Single nucleotide variant (missense variant +1 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 893042	NM_025000.4(DCAF17):c.986A>C (p.Lys329Thr)	DCAF17 (K329T)	Single nucleotide variant (missense variant +2 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 128892	NM_025000.4(DCAF17):c.999A>G (p.Gln333=)	DCAF17	Single nucleotide variant (synonymous variant +2 more)	Woodhouse-Sakati syndrome +1 more	GBenign
Select item 332269	NM_025000.4(DCAF17):c.1030T>C (p.Trp344Arg)	DCAF17 (W344R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 332270	NM_025000.4(DCAF17):c.1091+13A>G	DCAF17	Single nucleotide variant (intron variant)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 893255	NM_025000.4(DCAF17):c.1266+4T>C	DCAF17	Single nucleotide variant (intron variant)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 332271	NM_025000.4(DCAF17):c.1266+6G>A	DCAF17	Single nucleotide variant (intron variant)	Woodhouse-Sakati syndrome	GConflicting classifications of pathogenicity
Select item 128887	NM_025000.4(DCAF17):c.1267-7C>T	DCAF17	Single nucleotide variant (intron variant)	Woodhouse-Sakati syndrome +1 more	GBenign
Select item 128888	NM_025000.4(DCAF17):c.1320T>C (p.Ala440=)	DCAF17	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 893256	NM_025000.4(DCAF17):c.1422+14G>A	DCAF17	Single nucleotide variant (intron variant)	Woodhouse-Sakati syndrome	GConflicting classifications of pathogenicity
Select item 332272	NM_025000.4(DCAF17):c.1426T>C (p.Tyr476His)	DCAF17 (Y476H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 332273	NM_025000.4(DCAF17):c.*15T>C	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 332274	NM_025000.4(DCAF17):c.*48A>T	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 332275	NM_025000.4(DCAF17):c.*105A>G	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 332276	NM_025000.4(DCAF17):c.*126A>T	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 894111	NM_025000.4(DCAF17):c.*153C>G	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 332277	NM_025000.4(DCAF17):c.*188T>A	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 894112	NM_025000.4(DCAF17):c.*211C>A	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 332278	NM_025000.4(DCAF17):c.*350G>A	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GBenign
Select item 894506	NM_025000.4(DCAF17):c.*378T>C	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GBenign
Select item 894507	NM_025000.4(DCAF17):c.*423T>C	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 894508	NM_025000.4(DCAF17):c.*432C>G	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 332279	NM_025000.4(DCAF17):c.*530A>G	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 332280	NM_025000.4(DCAF17):c.*570G>A	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GBenign
Select item 332281	NM_025000.4(DCAF17):c.*676T>G	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GBenign
Select item 332282	NM_025000.4(DCAF17):c.*677C>A	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 332283	NM_025000.4(DCAF17):c.*808T>A	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 893083	NM_025000.4(DCAF17):c.*864A>G	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 893084	NM_025000.4(DCAF17):c.*876G>C	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 893085	NM_025000.4(DCAF17):c.*926G>T	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 332284	NM_025000.4(DCAF17):c.*1005A>G	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GBenign
Select item 893086	NM_025000.4(DCAF17):c.*1034G>A	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GBenign
Select item 893087	NM_025000.4(DCAF17):c.*1120A>T	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 893088	NM_025000.4(DCAF17):c.*1124G>A	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 332285	NM_025000.4(DCAF17):c.*1165C>G	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 332286	NM_025000.4(DCAF17):c.*1258dup	DCAF17	Duplication (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 893291	NM_025000.4(DCAF17):c.*1370C>T	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 332287	NM_025000.4(DCAF17):c.*1485AG[1]	DCAF17	Microsatellite (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 893292	NM_025000.4(DCAF17):c.*1521A>G	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GBenign
Select item 332288	NM_025000.4(DCAF17):c.*1531T>C	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 893293	NM_025000.4(DCAF17):c.*1540C>T	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 332289	NM_025000.4(DCAF17):c.*1565del	DCAF17	Deletion (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GBenign
Select item 893294	NM_025000.4(DCAF17):c.*1557T>A	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 893295	NM_025000.4(DCAF17):c.*1692G>C	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 332290	NM_025000.4(DCAF17):c.*1747C>A	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 332291	NM_025000.4(DCAF17):c.*1841G>T	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome +1 more	GConflicting classifications of pathogenicity
Select item 894138	NM_025000.4(DCAF17):c.*1965A>G	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GBenign
Select item 332292	NM_025000.4(DCAF17):c.*2066A>G	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 894139	NM_025000.4(DCAF17):c.*2113C>A	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 332293	NM_025000.4(DCAF17):c.*2183C>G	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GBenign
Select item 332294	NM_025000.4(DCAF17):c.*2202A>G	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 894140	NM_025000.4(DCAF17):c.*2241T>C	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 332295	NM_025000.4(DCAF17):c.*2292G>A	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 894141	NM_025000.4(DCAF17):c.*2303G>A	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 332296	NM_025000.4(DCAF17):c.*2312G>A	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 894546	NM_025000.4(DCAF17):c.*2318C>T	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 332297	NM_025000.4(DCAF17):c.*2340C>T	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GBenign
Select item 332298	NM_025000.4(DCAF17):c.*2348G>A	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GBenign
Select item 332299	NM_025000.4(DCAF17):c.*2380A>G	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 332300	NM_025000.4(DCAF17):c.*2425T>A	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GBenign
Select item 332301	NM_025000.4(DCAF17):c.*2429A>G	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 332302	NM_025000.4(DCAF17):c.*2473G>A	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GBenign
Select item 893118	NM_025000.4(DCAF17):c.*2535C>A	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 893119	NM_025000.4(DCAF17):c.*2591A>G	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 332303	NM_025000.4(DCAF17):c.*2623T>G	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 332304	NM_025000.4(DCAF17):c.*2747C>T	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 332305	NM_025000.4(DCAF17):c.*2775G>T	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GBenign
Select item 332306	NM_025000.4(DCAF17):c.*2795T>C	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GBenign
Select item 893120	NM_025000.4(DCAF17):c.*2943C>T	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome	GUncertain significance

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