ClinVar for Gene (Select 152816) - ClinVar

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Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062778	GRCh37/hg19 4q13.3-21.21(chr4:74822261-79345650)x1	AREG, ART3 +37 more	Copy number loss	not specified	GUncertain significance
Select item 3051676	NM_178497.5(ODAPH):c.*73C>T	ODAPH	Single nucleotide variant (non-coding transcript variant +2 more)	ODAPH-related condition	GLikely benign
Select item 3049164	NM_178497.5(ODAPH):c.118G>T (p.Ala40Ser)	ODAPH (A40S)	Single nucleotide variant (synonymous variant +2 more)	ODAPH-related condition	GLikely benign
Select item 3041840	NM_178497.5(ODAPH):c.67+445T>G	ODAPH	Single nucleotide variant (intron variant)	ODAPH-related condition	GLikely benign
Select item 3041580	NM_178497.5(ODAPH):c.54A>T (p.Val18=)	ODAPH	Single nucleotide variant (synonymous variant +1 more)	ODAPH-related condition	GLikely benign
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	AADAT, AASDH +537 more	Copy number gain	not provided	GPathogenic
Select item 1684642	NC_000004.12:g.67833055_82716065del	AMTN, LINC02499 +330 more	Deletion	See cases	GPathogenic
Select item 1527098	GRCh37/hg19 4q13.3-21.1(chr4:75876865-76546874)	CDKL2, ODAPH +3 more	Copy number gain	not specified	GUncertain significance
Select item 1527097	GRCh37/hg19 4q13.3-22.1(chr4:75737340-91131156)	ABCG2, ABRAXAS1 +91 more	Copy number gain	not specified	GPathogenic
Select item 1527095	GRCh37/hg19 4q13.3-21.21(chr4:73055313-80083154)	CXCL5, CXCL6 +51 more	Copy number loss	not specified	GPathogenic
Select item 1456083	NC_000004.11:g.(?_76481293)_(77700330_?)del	ART3, CCDC158 +16 more	Deletion	Progressive myoclonic epilepsy	GPathogenic
Select item 1340346	GRCh37/hg19 4q13.3-21.1(chr4:75617591-76926681)x3	BTC, CDKL2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1275253	NC_000004.12:g.75555738A>G	ODAPH	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1268128	NM_178497.5(ODAPH):c.67+216A>C	ODAPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264671	NC_000004.12:g.75555841T>C	LOC123477765, ODAPH	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1262065	NM_178497.5(ODAPH):c.326G>A (p.Arg109His)	ODAPH (R109H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1250554	NM_178497.5(ODAPH):c.67+138A>G	ODAPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239054	NM_178497.5(ODAPH):c.67+269A>C	ODAPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	CLOCK, COX18 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 983172	GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1	ABRAXAS1, ADAMTS3 +97 more	Copy number loss	See cases	GPathogenic
Select item 814566	GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1	CXCL3, LIN54 +82 more	Copy number loss	not provided	GPathogenic
Select item 814563	GRCh37/hg19 4q13.2-21.21(chr4:68950363-79738598)x1	ADAMTS3, AFM +92 more	Copy number loss	not provided	GPathogenic
Select item 788782	NM_178497.5(ODAPH):c.277T>C (p.Ser93Pro)	ODAPH (S93P)	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 685523	GRCh37/hg19 4q13.3-21.1(chr4:71561780-78304341)x1	ADAMTS3, AFM +51 more	Copy number loss	not provided	GPathogenic
Select item 685236	GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3	CCNG2, CCNI +109 more	Copy number gain	not provided	GPathogenic
Select item 562933	GRCh37/hg19 4q13.3-21.1(chr4:75353931-77183033)x1	BTC, PARM1 +17 more	Copy number loss	not provided	GUncertain significance
Select item 562932	GRCh37/hg19 4q13.3-21.1(chr4:74890695-77318961)x1	CDKL2, AREG +25 more	Copy number loss	not provided	GUncertain significance
Select item 443262	GRCh37/hg19 4q13.1-21.1(chr4:66017575-76772947)x1	ADAMTS3, AFM +75 more	Copy number loss	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	SCRG1, SDAD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	CCKAR, CWH43 +744 more	Copy number gain	See cases	GPathogenic
Select item 262959	NM_178497.5(ODAPH):c.89C>T (p.Pro30Leu)	ODAPH (L45F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992716, LOC129992717 +533 more	Copy number gain	See cases	GPathogenic
Select item 149262	GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	ABRAXAS1, ADAMTS3 +331 more	Copy number gain	See cases	GPathogenic
Select item 148058	GRCh38/hg38 4q13.3-21.1(chr4:75289409-75573152)x1	LINC02483, LOC123477765 +4 more	Copy number loss	See cases	GUncertain significance
Select item 58031	GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)x3	ADAMTS3, AFM +166 more	Copy number gain	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 57143	GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1	LOC129992733, LOC129992734 +236 more	Copy number loss	See cases	GPathogenic
Select item 37220	NM_178497.5(ODAPH):c.51_56delinsATGCTGGTTACTGGTA (p.Val18fs)	ODAPH (V18fs)	Indel (frameshift variant +1 more)	ODAPH-related condition	GLikely pathogenic
Select item 37219	NM_178497.3(C4orf26):c.318G>A	ODAPH (W106* +1 more)	Single nucleotide variant (missense variant +2 more)	ODAPH-related condition	GLikely pathogenic
Select item 37218	NM_178497.5(ODAPH):c.68-2A>T	ODAPH	Single nucleotide variant (splice acceptor variant)	Amelogenesis imperfecta hypomaturation type 2A4	GPathogenic
Select item 37217	NM_178497.5(ODAPH):c.129C>A (p.Cys43Ter)	ODAPH (C43* +1 more)	Single nucleotide variant (missense variant +2 more)	Amelogenesis imperfecta hypomaturation type 2A4	GPathogenic
Select item 37216	NM_178497.5(ODAPH):c.229C>T (p.Arg77Ter)	ODAPH (R77*)	Single nucleotide variant (synonymous variant +2 more)	Amelogenesis imperfecta hypomaturation type 2A4	GPathogenic

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Links from Gene

Items: 44