ClinVar for Gene (Select 401137) - ClinVar

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Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3310479	NM_214711.4(PRR27):c.472C>T (p.Pro158Ser)	PRR27 (P158S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310478	NM_214711.4(PRR27):c.34G>A (p.Val12Ile)	PRR27 (V12I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219452	NM_214711.4(PRR27):c.488C>A (p.Pro163His)	PRR27 (P163H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219451	NM_214711.4(PRR27):c.348G>T (p.Arg116Ser)	PRR27 (R116S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219450	NM_214711.4(PRR27):c.272G>A (p.Arg91His)	PRR27 (R91H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219449	NM_214711.4(PRR27):c.265C>T (p.His89Tyr)	PRR27 (H89Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219448	NM_214711.4(PRR27):c.112C>G (p.Leu38Val)	PRR27 (L38V)	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 3025950	NM_214711.4(PRR27):c.462T>A (p.Val154=)	PRR27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024756	NM_214711.4(PRR27):c.456C>A (p.Ala152=)	PRR27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2654795	NM_214711.4(PRR27):c.516A>C (p.Ala172=)	PRR27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654794	NM_214711.4(PRR27):c.504T>A (p.Pro168=)	PRR27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654793	NM_214711.4(PRR27):c.498T>G (p.Ala166=)	PRR27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619509	NM_214711.4(PRR27):c.216A>T (p.Leu72Phe)	PRR27 (L72F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597435	NM_214711.4(PRR27):c.653A>G (p.Asn218Ser)	PRR27 (N218S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541326	NM_214711.4(PRR27):c.104A>G (p.His35Arg)	PRR27 (H35R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518936	NM_214711.4(PRR27):c.211G>C (p.Gly71Arg)	PRR27 (G71R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2495954	NM_214711.4(PRR27):c.523G>A (p.Ala175Thr)	PRR27 (A175T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387585	NM_214711.4(PRR27):c.406G>A (p.Ala136Thr)	PRR27 (A136T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379431	NM_214711.4(PRR27):c.497C>G (p.Ala166Gly)	PRR27 (A166G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359766	NM_214711.4(PRR27):c.188C>T (p.Pro63Leu)	PRR27 (P63L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342350	NM_214711.4(PRR27):c.482A>G (p.Glu161Gly)	PRR27 (E161G)	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 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 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 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 60167	GRCh38/hg38 4q13.3(chr4:69758599-70193037)x1	CSN1S1, CSN2 +10 more	Copy number loss	See cases	GUncertain significance
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

ClinVar

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Links from Gene

Items: 52