DCAF8[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 147654	GRCh38/hg38 1q23.2(chr1:160059626-160217512)x3	ATP1A2, ATP1A4 +18 more	Copy number gain	See cases	GBenign
Select item 2442193	NM_015726.4(DCAF8):c.1727C>T (p.Ser576Phe)	DCAF8 (S576F)	Single nucleotide variant (missense variant +1 more)	Giant axonal neuropathy 2	GUncertain significance
Select item 2368722	NM_015726.4(DCAF8):c.1726T>C (p.Ser576Pro)	DCAF8 (S576P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2573583	NM_015726.4(DCAF8):c.1684C>T (p.Arg562Ter)	DCAF8 (R562*)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 3238653	NM_015726.4(DCAF8):c.1679G>A (p.Arg560His)	DCAF8 (R560H)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 1	GUncertain significance
Select item 2682462	NM_015726.4(DCAF8):c.1561-12T>C	DCAF8	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3080335	NM_015726.4(DCAF8):c.1381C>T (p.Leu461Phe)	DCAF8 (L461F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 806253	NM_015726.4(DCAF8):c.1233T>C (p.Ile411=)	DCAF8	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 796237	NM_015726.4(DCAF8):c.1173C>T (p.Thr391=)	DCAF8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3234736	NM_015726.4(DCAF8):c.1162G>T (p.Ala388Ser)	DCAF8 (A388S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2232447	NM_015726.4(DCAF8):c.1100A>G (p.Asn367Ser)	DCAF8 (N367S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271006	NM_015726.4(DCAF8):c.1055G>A (p.Arg352Gln)	DCAF8 (R352Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 806254	NM_015726.4(DCAF8):c.1028A>G (p.Asn343Ser)	DCAF8 (N343S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1804868	NM_015726.4(DCAF8):c.959+4A>C	DCAF8	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2633264	NM_015726.4(DCAF8):c.959C>T (p.Ser320Leu)	DCAF8 (S320L)	Single nucleotide variant (missense variant +1 more)	DCAF8-related disorder	GUncertain significance
Select item 133348	NM_015726.4(DCAF8):c.949C>T (p.Arg317Cys)	DCAF8 (R317C)	Single nucleotide variant (missense variant +1 more)	Giant axonal neuropathy 2	GPathogenic
Select item 788287	NM_015726.4(DCAF8):c.822G>A (p.Lys274=)	DCAF8	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 951345	NM_015726.4(DCAF8):c.809C>T (p.Thr270Ile)	DCAF8 (T270I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 788288	NM_015726.4(DCAF8):c.789A>G (p.Arg263=)	DCAF8	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 757088	NM_015726.4(DCAF8):c.777C>T (p.Asp259=)	DCAF8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1686614	NM_015726.4(DCAF8):c.723+43G>T	DCAF8	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3271003	NM_015726.4(DCAF8):c.674G>A (p.Arg225Gln)	DCAF8 (R225Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318338	NM_015726.4(DCAF8):c.670C>T (p.Arg224Trp)	DCAF8 (R224W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 739167	NM_015726.4(DCAF8):c.642C>T (p.Asp214=)	DCAF8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2639498	NM_015726.4(DCAF8):c.612C>T (p.Arg204=)	DCAF8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2620770	NM_015726.4(DCAF8):c.559C>A (p.His187Asn)	DCAF8 (H187N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2594441	NM_015726.4(DCAF8):c.551G>A (p.Arg184His)	DCAF8 (R184H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3049845	NM_015726.4(DCAF8):c.540G>T (p.Val180=)	DCAF8	Single nucleotide variant (synonymous variant +1 more)	DCAF8-related disorder	GLikely benign
Select item 3271004	NM_015726.4(DCAF8):c.496A>G (p.Ser166Gly)	DCAF8 (S166G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 930290	NM_015726.4(DCAF8):c.451C>T (p.Arg151Cys)	DCAF8 (R151C)	Single nucleotide variant (missense variant +1 more)	Giant axonal neuropathy 2	GUncertain significance
Select item 723462	NM_015726.4(DCAF8):c.444C>A (p.Pro148=)	DCAF8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1711231	NM_015726.4(DCAF8):c.437C>T (p.Ala146Val)	DCAF8 (A146V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2551978	NM_015726.4(DCAF8):c.425C>T (p.Ser142Leu)	DCAF8 (S142L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379550	NM_015726.4(DCAF8):c.400C>T (p.Arg134Trp)	DCAF8 (R134W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080337	NM_015726.4(DCAF8):c.383A>T (p.Asp128Val)	DCAF8 (D128V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2672364	NM_015726.4(DCAF8):c.373C>T (p.Arg125Cys)	DCAF8 (R125C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3271002	NM_015726.4(DCAF8):c.365G>A (p.Arg122Gln)	DCAF8 (R122Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2440710	NM_015726.4(DCAF8):c.364C>T (p.Arg122Trp)	DCAF8 (R122W)	Single nucleotide variant (missense variant +1 more)	Giant axonal neuropathy 2	GUncertain significance
Select item 2262840	NM_015726.4(DCAF8):c.359G>A (p.Arg120His)	DCAF8 (R120H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 806255	NM_015726.4(DCAF8):c.349C>T (p.Arg117Cys)	DCAF8 (R117C)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2672365	NM_015726.4(DCAF8):c.347G>A (p.Arg116His)	DCAF8 (R116H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 774585	NM_015726.4(DCAF8):c.313GAGGAAGAAGAG[1] (p.Glu109_Glu112del)	DCAF8	Microsatellite (inframe_deletion +1 more)	not provided	GBenign
Select item 1284410	NM_015726.4(DCAF8):c.297AGAGGA[2] (p.Glu111_Glu112del)	DCAF8	Microsatellite (inframe_deletion +1 more)	not provided	GBenign
Select item 3080336	NM_015726.4(DCAF8):c.287A>G (p.His96Arg)	DCAF8 (H96R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318278	NM_015726.4(DCAF8):c.283G>A (p.Val95Ile)	DCAF8 (V95I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271005	NM_015726.4(DCAF8):c.218G>C (p.Gly73Ala)	DCAF8 (G73A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474107	NM_015726.4(DCAF8):c.154G>A (p.Gly52Arg)	DCAF8 (G52R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 373149	NM_015726.4(DCAF8):c.152C>T (p.Thr51Ile)	DCAF8 (T51I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1691063	NM_015726.4(DCAF8):c.141T>A (p.Ser47Arg)	DCAF8 (S47R)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 3080334	NM_015726.4(DCAF8):c.118G>A (p.Glu40Lys)	DCAF8 (E40K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3257342	NM_015726.4(DCAF8):c.110C>T (p.Ser37Leu)	DCAF8 (S37L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 1809079	GRCh37/hg19 1q23.2-23.3(chr1:159778364-160770515)x3	ATP1A2, ATP1A4 +27 more	Copy number gain	not provided	GUncertain significance
Select item 1411942	NC_000001.10:g.(?_158581054)_(162750036_?)dup	LY9, MNDA +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1345184	NC_000001.10:g.(?_160090676)_(160327063_?)dup	ATP1A2, ATP1A4 +7 more	Duplication	Peroxisome biogenesis disorder 12A (Zellweger) +1 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 685941	GRCh37/hg19 1q23.2-23.3(chr1:159808188-161011163)x3	ATP1A2, ATP1A4 +31 more	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 63