CSN2[gene] - ClinVar

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Items: 54

	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 59451	GRCh38/hg38 4q13.1-13.3(chr4:65454562-72313693)x1	LOC129992665, LOC129992666 +103 more	Copy number loss	See cases	GPathogenic
Select item 57091	GRCh38/hg38 4q13.2-13.3(chr4:66842408-70831557)x1	AMBN, AMTN +76 more	Copy number loss	See cases	GPathogenic
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 148549	GRCh38/hg38 4q13.2-13.3(chr4:67799665-74240920)x1	ADAMTS3, AFM +121 more	Copy number loss	See cases	GLikely pathogenic
Select item 1684642	NC_000004.12:g.67833055_82716065del	LINC01088, LINC01094 +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 147584	GRCh38/hg38 4q13.2-13.3(chr4:68902161-70620273)x3	AMBN, AMTN +38 more	Copy number gain	See cases	GPathogenic
Select item 60167	GRCh38/hg38 4q13.3(chr4:69758599-70193037)x1	CSN1S1, CSN2 +10 more	Copy number loss	See cases	GUncertain significance
Select item 155453	GRCh38/hg38 4q13.3(chr4:69860680-70385052)x3	CABS1, CSN1S1 +11 more	Copy number gain	See cases	GLikely benign
Select item 2216140	NM_001891.4(CSN2):c.674G>C (p.Ser225Thr)	CSN2 (S224T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620447	NM_001891.4(CSN2):c.661C>T (p.His221Tyr)	CSN2 (H206Y +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2471353	NM_001891.4(CSN2):c.607C>A (p.Leu203Ile)	CSN2 (L203I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272950	NM_001891.4(CSN2):c.581A>G (p.Gln194Arg)	CSN2 (Q193R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078261	NM_001891.4(CSN2):c.538C>T (p.Pro180Ser)	CSN2 (P165S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269872	NM_001891.4(CSN2):c.505T>C (p.Trp169Arg)	CSN2 (W154R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296972	NM_001891.4(CSN2):c.499C>T (p.Pro167Ser)	CSN2 (P167S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3269874	NM_001891.4(CSN2):c.484G>A (p.Ala162Thr)	CSN2 (A147T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269875	NM_001891.4(CSN2):c.472C>T (p.Pro158Ser)	CSN2 (P143S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302300	NM_001891.4(CSN2):c.378T>A (p.Phe126Leu)	CSN2 (F111L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3078260	NM_001891.4(CSN2):c.377T>C (p.Phe126Ser)	CSN2 (F125S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530156	NM_001891.4(CSN2):c.365C>T (p.Thr122Met)	CSN2 (T107M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2247097	NM_001891.4(CSN2):c.365C>G (p.Thr122Arg)	CSN2 (T121R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223138	NM_001891.4(CSN2):c.277G>T (p.Val93Phe)	CSN2 (V92F +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2599254	NM_001891.4(CSN2):c.259C>A (p.Pro87Thr)	CSN2 (P72T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078259	NM_001891.4(CSN2):c.217C>A (p.Pro73Thr)	CSN2 (P58T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269873	NM_001891.4(CSN2):c.197A>C (p.Tyr66Ser)	CSN2 (Y66S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593324	NM_001891.4(CSN2):c.165C>G (p.Ile55Met)	CSN2 (I55M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078258	NM_001891.4(CSN2):c.164T>C (p.Ile55Thr)	CSN2 (I55T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654792	NM_001891.4(CSN2):c.153C>T (p.His51=)	CSN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2271890	NM_001891.4(CSN2):c.152A>G (p.His51Arg)	CSN2 (H36R +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2484927	NM_001891.4(CSN2):c.115G>T (p.Val39Phe)	CSN2 (V38F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2461588	NM_001891.4(CSN2):c.73A>C (p.Ser25Arg)	CSN2 (S25R)	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 1809429	GRCh37/hg19 4q13.2-13.3(chr4:70479061-70985189)x1	CSN1S1, CSN2 +7 more	Copy number loss	not provided	GUncertain significance
Select item 1808451	GRCh37/hg19 4q13.2-13.3(chr4:70478978-70985189)x1	CSN1S1, CSN2 +7 more	Copy number loss	not provided	GUncertain significance
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 814564	GRCh37/hg19 4q13.3(chr4:70618421-71083238)x1	CSN1S1, PRR27 +7 more	Copy number loss	not provided	GUncertain significance
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 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 562928	GRCh37/hg19 4q13.3(chr4:70594519-70885440)x3	CSN1S1, STATH +3 more	Copy number gain	not provided	GUncertain significance
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

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Items: 54