"GeneDx"[submitter] AND "DCAF17"[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60249	GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1	LOC129935070, LOC129935071 +162 more	Copy number loss	See cases	GPathogenic
Select item 58765	GRCh38/hg38 2q31.1(chr2:170444219-172050237)x1	LOC129935084, LOC129935085 +54 more	Copy number loss	See cases	GPathogenic
Select item 1178187	NC_000002.12:g.171433946C>G	DCAF17, METTL8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1231619	NC_000002.12:g.171433987G>A	DCAF17, METTL8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 893224	NM_025000.4(DCAF17):c.-213C>T	DCAF17, METTL8	Single nucleotide variant (5 prime UTR variant +2 more)	Woodhouse-Sakati syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1214452	NM_025000.4(DCAF17):c.127-49T>G	DCAF17	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 128889	NM_025000.4(DCAF17):c.150C>T (p.Val50=)	DCAF17	Single nucleotide variant (synonymous variant +1 more)	Woodhouse-Sakati syndrome +2 more	GBenign
Select item 332262	NM_025000.4(DCAF17):c.184G>A (p.Glu62Lys)	DCAF17 (E62K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1233822	NM_025000.4(DCAF17):c.231-174_231-173insA	DCAF17	Insertion (intron variant)	not provided	GBenign
Select item 1212786	NM_025000.4(DCAF17):c.321+226del	DCAF17	Deletion (intron variant)	not provided	GLikely benign
Select item 1245124	NM_025000.4(DCAF17):c.322-252_322-251insAAC	DCAF17	Insertion (intron variant)	not provided	GBenign
Select item 1272842	NM_025000.4(DCAF17):c.322-99T>C	DCAF17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1169859	NM_025000.4(DCAF17):c.322-15dup	DCAF17	Duplication (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1152174	NM_025000.4(DCAF17):c.322-15_322-14insTT	DCAF17	Insertion (intron variant)	Woodhouse-Sakati syndrome +1 more	GLikely benign
Select item 1194149	NM_025000.4(DCAF17):c.424G>A (p.Glu142Lys)	DCAF17 (E142K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 209146	NM_025000.4(DCAF17):c.436del (p.Ala147fs)	DCAF17 (A147fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1216169	NM_025000.4(DCAF17):c.458+202dup	DCAF17	Duplication (intron variant)	not provided	GLikely benign
Select item 1259988	NM_025000.4(DCAF17):c.459-241G>A	DCAF17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221588	NM_025000.4(DCAF17):c.459-190A>G	DCAF17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1164692	NM_025000.4(DCAF17):c.537+16C>T	DCAF17	Single nucleotide variant (intron variant)	Woodhouse-Sakati syndrome +1 more	GBenign/Likely benign
Select item 1208900	NM_025000.4(DCAF17):c.537+196T>C	DCAF17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287340	NM_025000.4(DCAF17):c.537+223C>T	DCAF17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272560	NM_025000.4(DCAF17):c.538-128T>A	DCAF17	Single nucleotide variant (intron variant)	not provided	GBenign
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)	Woodhouse-Sakati syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1198912	NM_025000.4(DCAF17):c.627+223G>A	DCAF17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225457	NM_025000.4(DCAF17):c.628-227G>A	DCAF17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248833	NM_025000.4(DCAF17):c.628-37T>G	DCAF17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 444538	NM_025000.4(DCAF17):c.724G>A (p.Ala242Thr)	DCAF17 (A242T)	Single nucleotide variant (missense variant +1 more)	Woodhouse-Sakati syndrome +1 more	GUncertain significance
Select item 801830	NM_025000.4(DCAF17):c.732+70dup	DCAF17	Duplication (intron variant)	not provided +1 more	GBenign
Select item 1268610	NM_025000.4(DCAF17):c.732+70del	DCAF17	Deletion (intron variant)	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)	Woodhouse-Sakati syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1196445	NM_025000.4(DCAF17):c.838+118A>G	DCAF17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188110	NM_025000.4(DCAF17):c.838+126A>T	DCAF17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266910	NM_025000.4(DCAF17):c.838+224C>T	DCAF17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263554	NM_025000.4(DCAF17):c.839-258A>G	DCAF17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234450	NM_025000.4(DCAF17):c.839-236C>T	DCAF17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1308302	NM_025000.4(DCAF17):c.930GAA[1] (p.Lys312del)	DCAF17 (K312del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 128891	NM_025000.4(DCAF17):c.939G>A (p.Gln313=)	DCAF17	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 1252851	NM_025000.4(DCAF17):c.982-300dup	DCAF17	Duplication (intron variant)	not provided	GBenign
Select item 1278411	NM_025000.4(DCAF17):c.982-299C>A	DCAF17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188762	NM_025000.4(DCAF17):c.982-251T>C	DCAF17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251097	NM_025000.4(DCAF17):c.982-241del	DCAF17	Deletion (intron variant)	not provided	GBenign
Select item 128892	NM_025000.4(DCAF17):c.999A>G (p.Gln333=)	DCAF17	Single nucleotide variant (synonymous variant +2 more)	Woodhouse-Sakati syndrome +2 more	GBenign
Select item 1309531	NM_025000.4(DCAF17):c.1016C>T (p.Ser339Phe)	DCAF17 (S339F)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 332269	NM_025000.4(DCAF17):c.1030T>C (p.Trp344Arg)	DCAF17 (W344R)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1286351	NM_025000.4(DCAF17):c.1092-75C>T	DCAF17	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1221517	NM_025000.4(DCAF17):c.1182+192C>A	DCAF17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211267	NM_025000.4(DCAF17):c.1182+236_1182+240del	DCAF17	Deletion (intron variant)	not provided	GLikely benign
Select item 1190346	NM_025000.4(DCAF17):c.1183-108G>A	DCAF17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232467	NM_025000.4(DCAF17):c.1266+51T>A	DCAF17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240489	NM_025000.4(DCAF17):c.1267-269G>A	DCAF17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 128887	NM_025000.4(DCAF17):c.1267-7C>T	DCAF17	Single nucleotide variant (intron variant)	Woodhouse-Sakati syndrome +2 more	GBenign
Select item 1431735	NM_025000.4(DCAF17):c.1315G>A (p.Val439Ile)	DCAF17 (V439I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 128888	NM_025000.4(DCAF17):c.1320T>C (p.Ala440=)	DCAF17	Single nucleotide variant (synonymous variant +1 more)	Woodhouse-Sakati syndrome +1 more	GBenign/Likely benign
Select item 1265572	NM_025000.4(DCAF17):c.1422+280G>A	DCAF17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220669	NM_025000.4(DCAF17):c.1422+306A>G	DCAF17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205424	NM_025000.4(DCAF17):c.1423-221C>T	DCAF17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181032	NM_025000.4(DCAF17):c.1423-206C>A	DCAF17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190858	NM_025000.4(DCAF17):c.1423-23C>G	DCAF17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 332277	NM_025000.4(DCAF17):c.*188T>A	DCAF17	Single nucleotide variant (3 prime UTR variant +1 more)	Woodhouse-Sakati syndrome +1 more	GBenign/Likely benign
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic

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Items: 63