ClinVar for Gene (Select 1448) - ClinVar

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Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3078263	NM_001394997.1(CSN3):c.509C>G (p.Pro170Arg)	CSN3 (P170R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078262	NM_001394997.1(CSN3):c.264G>T (p.Arg88Ser)	CSN3 (R88S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062785	GRCh37/hg19 4q13.3(chr4:70563498-71253752)x1	CABS1, CSN1S1 +12 more	Copy number loss	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685970	GRCh37/hg19 4q13.1-13.3(chr4:63684557-71480358)x3	AMBN, AMTN +38 more	Copy number gain	not provided	GPathogenic
Select item 2685114	GRCh37/hg19 4q13.2-13.3(chr4:69146217-75500577)x1	ADAMTS3, AFM +58 more	Copy number loss	not provided	GPathogenic
Select item 2685109	GRCh37/hg19 4q12-13.3(chr4:57584845-72430996)x1	ADGRL3, AMBN +52 more	Copy number loss	not provided	GPathogenic
Select item 2610925	NM_001394997.1(CSN3):c.82C>T (p.Pro28Ser)	CSN3 (P28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610924	NM_001394997.1(CSN3):c.144G>A (p.Met48Ile)	CSN3 (M48I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2599552	NM_001394997.1(CSN3):c.385A>G (p.Ile129Val)	CSN3 (I129V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402977	NM_001394997.1(CSN3):c.452C>T (p.Thr151Met)	CSN3 (T151M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393885	NM_001394997.1(CSN3):c.218A>G (p.Asn73Ser)	CSN3 (N73S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318654	NM_001394997.1(CSN3):c.188A>T (p.Tyr63Phe)	CSN3 (Y63F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295500	NM_001394997.1(CSN3):c.236C>T (p.Thr79Ile)	CSN3 (T79I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291987	NM_001394997.1(CSN3):c.146A>G (p.Tyr49Cys)	CSN3 (Y49C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266488	NM_001394997.1(CSN3):c.355G>A (p.Ala119Thr)	CSN3 (A119T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263500	NM_001394997.1(CSN3):c.154C>T (p.Pro52Ser)	CSN3 (P52S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216200	NM_001394997.1(CSN3):c.451A>G (p.Thr151Ala)	CSN3 (T151A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204451	NM_001394997.1(CSN3):c.193C>T (p.Arg65Cys)	CSN3 (R65C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1684642	NC_000004.12:g.67833055_82716065del	BTC, CABS1 +330 more	Deletion	See cases	GPathogenic
Select item 1527090	GRCh37/hg19 4q13.1-13.3(chr4:61867555-74711517)	ADAMTS3, ADGRL3 +58 more	Copy number loss	not specified	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC123477761 +360 more	Copy number loss	Piebaldism	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 688874	GRCh37/hg19 4q13.3(chr4:70929700-72479262)x3	AMBN, AMTN +17 more	Copy number gain	not provided	GUncertain significance
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 562929	GRCh37/hg19 4q13.3(chr4:70725002-71237421)x3	FDCSP, HTN3 +10 more	Copy number gain	not provided	GLikely benign
Select item 562927	GRCh37/hg19 4q13.2-13.3(chr4:70012338-71167321)x3	CSN1S1, SULT1E1 +14 more	Copy number gain	not provided	GUncertain significance
Select item 562920	GRCh37/hg19 4q13.1-13.3(chr4:64705501-73469716)x3	ADAMTS3, AMBN +49 more	Copy number gain	not provided	GPathogenic
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
Select item 155453	GRCh38/hg38 4q13.3(chr4:69860680-70385052)x3	CABS1, CSN1S1 +11 more	Copy number gain	See cases	GLikely benign
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 155363	GRCh38/hg38 4q13.3(chr4:70204468-71204531)x3	AMBN, AMTN +26 more	Copy number gain	See cases	GUncertain significance
Select item 154298	GRCh38/hg38 4q13.2-13.3(chr4:67744481-70267689)x1	CSN1S1, CSN2 +43 more	Copy number loss	See cases	GUncertain significance
Select item 148864	GRCh38/hg38 4q13.3(chr4:70054775-70478053)x1	CABS1, CSN3 +9 more	Copy number loss	See cases	GUncertain significance
Select item 148549	GRCh38/hg38 4q13.2-13.3(chr4:67799665-74240920)x1	ADAMTS3, AFM +121 more	Copy number loss	See cases	GLikely pathogenic
Select item 147584	GRCh38/hg38 4q13.2-13.3(chr4:68902161-70620273)x3	AMBN, AMTN +38 more	Copy number gain	See cases	GPathogenic
Select item 59451	GRCh38/hg38 4q13.1-13.3(chr4:65454562-72313693)x1	LOC129992665, LOC129992666 +103 more	Copy number loss	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 57860	GRCh38/hg38 4q13.3(chr4:70072741-71612174)x3	AMBN, AMTN +30 more	Copy number gain	See cases	GUncertain significance
Select item 57091	GRCh38/hg38 4q13.2-13.3(chr4:66842408-70831557)x1	AMBN, AMTN +76 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 44