ClinVar for Gene (Select 55635) - ClinVar

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Links from Gene

Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3271625	NM_001114120.3(DEPDC1):c.1821G>T (p.Leu607Phe)	DEPDC1 (L323F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271624	NM_001114120.3(DEPDC1):c.1864C>T (p.Arg622Cys)	DEPDC1 (R338C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271623	NM_001114120.3(DEPDC1):c.956A>G (p.His319Arg)	DEPDC1 (H319R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081727	NM_001114120.3(DEPDC1):c.74G>A (p.Arg25Gln)	DEPDC1 (R25Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081726	NM_001114120.3(DEPDC1):c.726C>A (p.Asp242Glu)	DEPDC1 (D242E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081725	NM_001114120.3(DEPDC1):c.671A>G (p.Asn224Ser)	DEPDC1 (N224S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081724	NM_001114120.3(DEPDC1):c.478G>T (p.Gly160Cys)	DEPDC1 (G160C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081723	NM_001114120.3(DEPDC1):c.467C>A (p.Ser156Tyr)	DEPDC1 (S156Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081722	NM_001114120.3(DEPDC1):c.389T>C (p.Phe130Ser)	DEPDC1 (F130S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081720	NM_001114120.3(DEPDC1):c.2330A>G (p.Lys777Arg)	DEPDC1 (K493R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081719	NM_001114120.3(DEPDC1):c.2315C>T (p.Pro772Leu)	DEPDC1 (P488L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081718	NM_001114120.3(DEPDC1):c.2141C>T (p.Ala714Val)	DEPDC1 (A430V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081717	NM_001114120.3(DEPDC1):c.2069A>G (p.Gln690Arg)	DEPDC1 (Q406R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081716	NM_001114120.3(DEPDC1):c.2047C>A (p.Leu683Ile)	DEPDC1 (L399I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081714	NM_001114120.3(DEPDC1):c.1388A>G (p.Gln463Arg)	DEPDC1 (Q463R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081713	NM_001114120.3(DEPDC1):c.136G>T (p.Ala46Ser)	DEPDC1 (A46S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081712	NM_001114120.3(DEPDC1):c.1343T>C (p.Ile448Thr)	DEPDC1 (I448T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081711	NM_001114120.3(DEPDC1):c.1015T>G (p.Phe339Val)	DEPDC1 (F339V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619456	NM_001114120.3(DEPDC1):c.266A>G (p.Lys89Arg)	DEPDC1 (K89R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596153	NM_001114120.3(DEPDC1):c.1024A>G (p.Thr342Ala)	DEPDC1 (T342A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594145	NM_001114120.3(DEPDC1):c.1276A>G (p.Ile426Val)	DEPDC1 (I426V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557169	NM_001114120.3(DEPDC1):c.315A>T (p.Arg105Ser)	DEPDC1 (R105S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556529	NM_001114120.3(DEPDC1):c.1505G>A (p.Cys502Tyr)	DEPDC1 (C502Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521328	NM_001114120.3(DEPDC1):c.1865G>A (p.Arg622His)	DEPDC1 (R338H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511845	NM_001114120.3(DEPDC1):c.1899G>A (p.Met633Ile)	DEPDC1 (M349I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510182	NM_001114120.3(DEPDC1):c.1973C>T (p.Ala658Val)	DEPDC1 (A658V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507539	NM_001114120.3(DEPDC1):c.1601T>C (p.Met534Thr)	DEPDC1 (M534T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488801	NM_001114120.3(DEPDC1):c.1100T>C (p.Ile367Thr)	DEPDC1 (I367T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375181	NM_001114120.3(DEPDC1):c.1337C>T (p.Pro446Leu)	DEPDC1 (P446L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2365804	NM_001114120.3(DEPDC1):c.2207C>G (p.Ser736Cys)	DEPDC1 (S736C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363554	NM_001114120.3(DEPDC1):c.1384A>C (p.Lys462Gln)	DEPDC1 (K462Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345728	NM_001114120.3(DEPDC1):c.1226T>C (p.Met409Thr)	DEPDC1 (M409T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344036	NM_001114120.3(DEPDC1):c.692G>A (p.Arg231His)	DEPDC1 (R231H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2332603	NM_001114120.3(DEPDC1):c.1057G>A (p.Glu353Lys)	DEPDC1 (E353K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322544	NM_001114120.3(DEPDC1):c.1145T>G (p.Leu382Arg)	DEPDC1 (L382R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321037	NM_001114120.3(DEPDC1):c.2017T>A (p.Ser673Thr)	DEPDC1 (S389T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318471	NM_001114120.3(DEPDC1):c.844T>A (p.Tyr282Asn)	DEPDC1 (Y282N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313754	NM_001114120.3(DEPDC1):c.2403T>G (p.Ile801Met)	DEPDC1 (I517M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311783	NM_001114120.3(DEPDC1):c.1082C>A (p.Ser361Tyr)	DEPDC1 (S361Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297821	NM_001114120.3(DEPDC1):c.2423G>T (p.Arg808Leu)	DEPDC1 (R808L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277071	NM_001114120.3(DEPDC1):c.2275G>A (p.Glu759Lys)	DEPDC1 (E475K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275159	NM_001114120.3(DEPDC1):c.1967G>T (p.Cys656Phe)	DEPDC1 (C656F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272000	NM_001114120.3(DEPDC1):c.2425A>G (p.Ser809Gly)	DEPDC1 (S525G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264913	NM_001114120.3(DEPDC1):c.1705A>G (p.Ile569Val)	DEPDC1 (I569V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209055	NM_001114120.3(DEPDC1):c.2428C>A (p.Leu810Ile)	DEPDC1 (L810I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707456	Single allele	ACADM, AK5 +188 more	Duplication	not specified	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 1527048	GRCh37/hg19 1p31.3-31.2(chr1:65125111-69186543)	SGIP1, SLC35D1 +23 more	Copy number gain	not specified	GUncertain significance
Select item 830561	NC_000001.11:g.(?_68438187)_(68484090_?)del	RPE65, DEPDC1	Deletion	Leber congenital amaurosis 2 +1 more	GPathogenic
Select item 814091	GRCh37/hg19 1p31.3-31.2(chr1:68362723-69625048)x1	DEPDC1, DIRAS3 +2 more	Copy number loss	not provided	GUncertain significance
Select item 767677	NM_001114120.3(DEPDC1):c.2435A>G (p.Ter812=)	DEPDC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 718487	NM_001114120.3(DEPDC1):c.1925C>T (p.Thr642Met)	DEPDC1 (T642M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 691479	NM_001114120.3(DEPDC1):c.1459T>A (p.Ser487Thr)	DEPDC1 (S487T)	Single nucleotide variant (missense variant +1 more)	Aganglionic megacolon	GUncertain significance
Select item 686749	GRCh37/hg19 1p31.3-31.1(chr1:66868168-77106425)x1	ACADM, ANKRD13C +39 more	Copy number loss	not provided	GPathogenic
Select item 685733	GRCh37/hg19 1p31.3-22.3(chr1:67851233-86101340)x1	ACADM, ADGRL2 +65 more	Copy number loss	not provided	GPathogenic
Select item 684460	Single allele	ACADM, ADGRL2 +85 more	Deletion	not provided	Gnot provided
Select item 666427	Single allele	ROR1, RPE65 +53 more	Deletion	Intellectual disability, severe	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565102	GRCh37/hg19 1p31.3-31.1(chr1:62434799-71656180)x3	AK4, ALG6 +46 more	Copy number gain	not provided	GPathogenic
Select item 442708	GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1	ACADM, ADGRL2 +94 more	Copy number loss	See cases	GPathogenic
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 441647	GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1	ACADM, ADGRL4 +78 more	Copy number loss	See cases	GPathogenic
Select item 155062	GRCh38/hg38 1p31.3-31.1(chr1:66865125-77123381)x1	ACADM, ANKRD13C +165 more	Copy number loss	See cases	GPathogenic
Select item 154385	GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3	AK4, ANKRD13C +210 more	Copy number gain	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	MIGA1, MIR101-1 +558 more	Copy number loss	See cases	GPathogenic
Select item 144714	GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1	AK4, ALG6 +276 more	Copy number loss	See cases	GPathogenic
Select item 144228	GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1	DEPDC1, DEPDC1-AS1 +270 more	Copy number loss	See cases	GPathogenic
Select item 59972	GRCh38/hg38 1p31.3-31.1(chr1:67239704-71924806)x1	ANKRD13C, ANKRD13C-DT +80 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	ACADM, AK4 +331 more	Copy number loss	See cases	GPathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	LOC111501769, LOC112590812 +339 more	Copy number loss	See cases	GPathogenic
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 57090	GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1	LOC122094841, LOC122094842 +253 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 73