ClinVar for Gene (Select 10886) - ClinVar

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Links from Gene

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3407368	NM_004885.3(NPFFR2):c.369G>C (p.Leu123Phe)	NPFFR2 (L123F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3407367	NM_004885.3(NPFFR2):c.790G>A (p.Val264Met)	NPFFR2 (V267M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3407366	NM_004885.3(NPFFR2):c.1A>G (p.Met1Val)	NPFFR2 (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3407365	NM_004885.3(NPFFR2):c.436T>C (p.Cys146Arg)	NPFFR2 (C146R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3407364	NM_004885.3(NPFFR2):c.1184A>G (p.Tyr395Cys)	NPFFR2 (Y395C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3407363	NM_004885.3(NPFFR2):c.970G>A (p.Gly324Ser)	NPFFR2 (G324S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3407362	NM_004885.3(NPFFR2):c.655T>A (p.Tyr219Asn)	NPFFR2 (Y219N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3407361	NM_004885.3(NPFFR2):c.59A>G (p.Asn20Ser)	NPFFR2 (N20S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300780	NM_004885.3(NPFFR2):c.215G>A (p.Arg72Lys)	NPFFR2 (R72K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300778	NM_004885.3(NPFFR2):c.268A>C (p.Ser90Arg)	NPFFR2 (S93R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300777	NM_004885.3(NPFFR2):c.1175C>A (p.Thr392Asn)	NPFFR2 (T392N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3201638	NM_004885.3(NPFFR2):c.551T>G (p.Val184Gly)	NPFFR2 (V184G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201637	NM_004885.3(NPFFR2):c.184G>A (p.Gly62Arg)	NPFFR2 (G65R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201635	NM_004885.3(NPFFR2):c.1251C>G (p.Ser417Arg)	NPFFR2 (S420R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201634	NM_004885.3(NPFFR2):c.928A>T (p.Ile310Phe)	NPFFR2 (I310F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201633	NM_004885.3(NPFFR2):c.806A>G (p.Lys269Arg)	NPFFR2 (K269R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	AADAT, AASDH +537 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 2606327	NM_004885.3(NPFFR2):c.913A>G (p.Asn305Asp)	NPFFR2 (N305D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603590	NM_004885.3(NPFFR2):c.352T>C (p.Cys118Arg)	NPFFR2 (C121R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496348	NM_004885.3(NPFFR2):c.144C>G (p.Phe48Leu)	NPFFR2 (F51L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396846	NM_004885.3(NPFFR2):c.479C>G (p.Ala160Gly)	NPFFR2 (A160G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395654	NM_004885.3(NPFFR2):c.-110A>C	NPFFR2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2389855	NM_004885.3(NPFFR2):c.1100C>T (p.Ala367Val)	NPFFR2 (A370V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383694	NM_004885.3(NPFFR2):c.-77A>T	NPFFR2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2348566	NM_004885.3(NPFFR2):c.1192A>C (p.Ser398Arg)	NPFFR2 (S398R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333003	NM_004885.2(NPFFR2):c.20C>T (p.Thr7Ile)	NPFFR2 (T7I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2332863	NM_004885.3(NPFFR2):c.325G>A (p.Ala109Thr)	NPFFR2 (A112T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321191	NM_004885.3(NPFFR2):c.13T>C (p.Trp5Arg)	NPFFR2 (W8R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304558	NM_004885.3(NPFFR2):c.445T>C (p.Tyr149His)	NPFFR2 (Y149H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248684	NM_004885.3(NPFFR2):c.178A>G (p.Met60Val)	NPFFR2 (M60V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240167	NM_004885.3(NPFFR2):c.1238A>C (p.Glu413Ala)	NPFFR2 (E416A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206488	NM_004885.3(NPFFR2):c.713T>C (p.Met238Thr)	NPFFR2 (M238T +1 more)	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 1340436	GRCh37/hg19 4q13.3(chr4:72998352-73320894)x3	ADAMTS3, NPFFR2	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 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	AMBN, AMTN +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 814567	GRCh37/hg19 4q13.3(chr4:72834889-73561412)x3	NPFFR2, ADAMTS3	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 790001	NM_004885.3(NPFFR2):c.-202C>G	NPFFR2 (S35R)	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 788409	NM_004885.3(NPFFR2):c.217A>G (p.Asn73Asp)	NPFFR2 (N175D +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 775989	NM_004885.3(NPFFR2):c.443T>C (p.Val148Ala)	NPFFR2 (V148A +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 734803	NM_004885.3(NPFFR2):c.388G>A (p.Ala130Thr)	NPFFR2 (A133T +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 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 443065	GRCh37/hg19 4q13.3(chr4:72224764-73824383)x1	ADAMTS3, GC +2 more	Copy number loss	See cases	GUncertain significance
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 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 154915	GRCh38/hg38 4q13.3(chr4:71367496-72953379)x1	ADAMTS3, GC +8 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 59451	GRCh38/hg38 4q13.1-13.3(chr4:65454562-72313693)x1	LOC129992665, LOC129992666 +103 more	Copy number loss	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 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 57862	GRCh38/hg38 4q13.3(chr4:70727833-72040353)x3	DCK, GC +21 more	Copy number gain	See cases	GUncertain significance
Select item 57861	GRCh38/hg38 4q13.3(chr4:70675977-72158855)x3	DCK, GC +23 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 62