1121[HGNC] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC123477761 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 1684642	NC_000004.12:g.67833055_82716065del	FDCSP, LOC129992677 +330 more	Deletion	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
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 149262	GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	ABRAXAS1, ADAMTS3 +331 more	Copy number gain	See cases	GPathogenic
Select item 147880	GRCh38/hg38 4q13.3(chr4:74097483-75266770)x1	AREG, BTC +29 more	Copy number loss	See cases	GUncertain significance
Select item 3262035	NM_001729.4(BTC):c.487A>G (p.Lys163Glu)	BTC (K163E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411313	NM_001729.4(BTC):c.478A>G (p.Thr160Ala)	BTC (T111A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257931	NM_001729.4(BTC):c.474G>A (p.Met158Ile)	BTC (M109I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400154	NM_001729.4(BTC):c.463G>A (p.Glu155Lys)	BTC (E106K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262033	NM_001729.4(BTC):c.442C>T (p.Arg148Cys)	BTC (R148C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135466	NM_001729.4(BTC):c.412G>T (p.Val138Phe)	BTC (V138F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135465	NM_001729.4(BTC):c.409G>A (p.Gly137Ser)	BTC (G137S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262034	NM_001729.4(BTC):c.398T>C (p.Ile133Thr)	BTC (I133T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288204	NM_001729.4(BTC):c.373A>C (p.Ile125Leu)	BTC (I125L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558345	NM_001729.4(BTC):c.353A>G (p.Gln118Arg)	BTC (Q118R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548899	NM_001729.4(BTC):c.328T>C (p.Phe110Leu)	BTC (F110L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281095	NM_001729.4(BTC):c.317G>A (p.Arg106Lys)	BTC (R106K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608949	NM_001729.4(BTC):c.312T>G (p.Cys104Trp)	BTC (C104W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239966	NM_001729.4(BTC):c.310T>C (p.Cys104Arg)	BTC (C104R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611351	NM_001729.4(BTC):c.298A>T (p.Ile100Phe)	BTC (I100F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226916	NM_001729.4(BTC):c.288T>G (p.Asp96Glu)	BTC (D96E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 780468	NM_001729.4(BTC):c.130C>T (p.Leu44Phe)	BTC (L44F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3135468	NM_001729.4(BTC):c.74T>A (p.Ile25Asn)	BTC (I25N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135467	NM_001729.4(BTC):c.46C>T (p.Leu16Phe)	BTC (L16F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394571	NM_001729.4(BTC):c.16C>G (p.Arg6Gly)	BTC (R6G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226215	NM_001729.4(BTC):c.16C>T (p.Arg6Trp)	BTC (R6W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600441	NM_001729.4(BTC):c.14C>T (p.Ala5Val)	BTC (A5V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255683	NM_001729.4(BTC):c.8G>C (p.Arg3Pro)	BTC (R3P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SEC24D, CLDN22 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685116	GRCh37/hg19 4q13.3-21.1(chr4:74958697-76341496)x1	AREG, BTC +5 more	Copy number loss	not provided	GUncertain significance
Select item 1809120	GRCh37/hg19 4q13.3(chr4:75244024-75866729)x3	AREG, BTC +2 more	Copy number gain	not provided	GUncertain significance
Select item 1527095	GRCh37/hg19 4q13.3-21.21(chr4:73055313-80083154)	CXCL5, CXCL6 +51 more	Copy number loss	not specified	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 983172	GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1	ABRAXAS1, ADAMTS3 +97 more	Copy number loss	See cases	GPathogenic
Select item 814570	GRCh37/hg19 4q13.3(chr4:75067426-75980925)x3	AREG, EPGN +4 more	Copy number gain	not provided	GUncertain significance
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 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	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic

ClinVar

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Items: 49