ClinVar for Gene (Select 50717) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 2682462	NM_015726.4(DCAF8):c.1561-12T>C	DCAF8	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 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 2639498	NM_015726.4(DCAF8):c.612C>T (p.Arg204=)	DCAF8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 2573583	NM_015726.4(DCAF8):c.1684C>T (p.Arg562Ter)	DCAF8 (R562*)	Single nucleotide variant (nonsense +1 more)	not specified	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 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 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 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 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 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 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 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 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 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 1809079	GRCh37/hg19 1q23.2-23.3(chr1:159778364-160770515)x3	ATP1A2, ATP1A4 +27 more	Copy number gain	not provided	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 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 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 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 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 1284410	NM_015726.4(DCAF8):c.297AGAGGA[2] (p.Glu111_Glu112del)	DCAF8	Microsatellite (inframe_deletion +1 more)	not provided	GBenign
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
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 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 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 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 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 788288	NM_015726.4(DCAF8):c.789A>G (p.Arg263=)	DCAF8	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 774585	NM_015726.4(DCAF8):c.313GAGGAAGAAGAG[1] (p.Glu109_Glu112del)	DCAF8	Microsatellite (inframe_deletion +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 739167	NM_015726.4(DCAF8):c.642C>T (p.Asp214=)	DCAF8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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
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 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	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 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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 63