ClinVar for Gene (Select 653247) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309715	NM_006248.4(PRB2):c.504C>G (p.Asn168Lys)	PRB2 (N168K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309714	NM_006248.4(PRB2):c.571C>T (p.Pro191Ser)	PRB2 (P191S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309713	NM_006248.4(PRB2):c.961C>A (p.Pro321Thr)	PRB2 (P321T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309710	NM_006248.4(PRB2):c.307C>G (p.Pro103Ala)	PRB2 (P103A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309709	NM_006248.4(PRB2):c.391G>C (p.Gly131Arg)	PRB2 (G131R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309708	NM_006248.4(PRB2):c.826G>T (p.Gly276Cys)	PRB2 (G276C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309707	NM_006248.4(PRB2):c.479A>T (p.Gln160Leu)	PRB2 (Q160L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309706	NM_006248.4(PRB2):c.1058G>A (p.Gly353Asp)	PRB2 (G353D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309705	NM_006248.4(PRB2):c.1128T>G (p.Asn376Lys)	PRB2 (N376K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309704	NM_006248.4(PRB2):c.1126A>C (p.Asn376His)	PRB2 (N376H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309703	NM_006248.4(PRB2):c.958C>T (p.Pro320Ser)	PRB2 (P320S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218273	NM_006248.4(PRB2):c.887G>T (p.Ser296Ile)	PRB2 (S296I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218272	NM_006248.4(PRB2):c.871G>A (p.Gly291Ser)	PRB2 (G291S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218271	NM_006248.4(PRB2):c.814A>G (p.Asn272Asp)	PRB2 (N272D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218269	NM_006248.4(PRB2):c.635C>A (p.Pro212His)	PRB2 (P212H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218267	NM_006248.4(PRB2):c.610C>T (p.Pro204Ser)	PRB2 (P204S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218266	NM_006248.4(PRB2):c.586C>T (p.Pro196Ser)	PRB2 (P196S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3218265	NM_006248.4(PRB2):c.526C>T (p.Pro176Ser)	PRB2 (P176S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218263	NM_006248.4(PRB2):c.26C>T (p.Ala9Val)	PRB2 (A9V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218261	NM_006248.4(PRB2):c.1022C>T (p.Pro341Leu)	PRB2 (P341L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218260	NM_006248.4(PRB2):c.1015C>A (p.Pro339Thr)	PRB2 (P339T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2684668	GRCh37/hg19 12p13.2(chr12:10588512-11788901)x3	KLRC1, KLRC2 +24 more	Copy number gain	not provided	GUncertain significance
Select item 2672491	NM_006248.4(PRB2):c.819A>G (p.Lys273=)	PRB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2672490	NM_006248.4(PRB2):c.822T>C (p.Pro274=)	PRB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2642723	NM_006248.4(PRB2):c.393T>C (p.Gly131=)	PRB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642722	NM_006248.4(PRB2):c.861C>G (p.Pro287=)	PRB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2591246	NM_006248.4(PRB2):c.395C>T (p.Pro132Leu)	PRB2 (P132L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589517	NM_006248.4(PRB2):c.122C>A (p.Pro41Gln)	PRB2 (P41Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560092	NM_006248.4(PRB2):c.922C>G (p.Pro308Ala)	PRB2 (P308A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559323	NM_006248.4(PRB2):c.826G>A (p.Gly276Ser)	PRB2 (G276S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557733	NM_006248.4(PRB2):c.161C>T (p.Pro54Leu)	PRB2 (P54L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552495	NM_006248.4(PRB2):c.164G>A (p.Gly55Glu)	PRB2 (G55E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548466	NM_006248.4(PRB2):c.756G>T (p.Gln252His)	PRB2 (Q252H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537548	NM_006248.4(PRB2):c.737C>T (p.Pro246Leu)	PRB2 (P246L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535088	NM_006248.4(PRB2):c.691A>G (p.Lys231Glu)	PRB2 (K231E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521863	NM_006248.4(PRB2):c.127G>A (p.Gly43Arg)	PRB2 (G43R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512184	NM_006248.4(PRB2):c.863C>T (p.Pro288Leu)	PRB2 (P288L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506545	GRCh37/hg19 12p13.2-13.1(chr12:11463270-14019142)	APOLD1, BCL2L14 +19 more	Copy number loss	Intellectual disability	GPathogenic
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2395053	NM_006248.4(PRB2):c.67G>A (p.Val23Ile)	PRB2 (V23I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357589	NM_006248.4(PRB2):c.275C>T (p.Pro92Leu)	PRB2 (P92L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356838	NM_006248.4(PRB2):c.137A>G (p.Lys46Arg)	PRB2 (K46R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348817	NM_006248.4(PRB2):c.976C>A (p.Gln326Lys)	PRB2 (Q326K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335050	NM_006248.4(PRB2):c.1067C>A (p.Ser356Tyr)	PRB2 (S356Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334255	NM_006248.4(PRB2):c.706C>G (p.Arg236Gly)	PRB2 (R236G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330172	NM_006248.4(PRB2):c.1108C>T (p.Pro370Ser)	PRB2 (P370S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329393	NM_006248.4(PRB2):c.184C>T (p.Pro62Ser)	PRB2 (P62S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329031	NM_006248.4(PRB2):c.308C>T (p.Pro103Leu)	PRB2 (P103L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321035	NM_006248.4(PRB2):c.866A>T (p.Gln289Leu)	PRB2 (Q289L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306760	NM_006248.4(PRB2):c.1112A>C (p.Gln371Pro)	PRB2 (Q371P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2300400	NM_006248.4(PRB2):c.622G>A (p.Gly208Arg)	PRB2 (G208R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283372	NM_006248.4(PRB2):c.926C>A (p.Pro309Gln)	PRB2 (P309Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275186	NM_006248.4(PRB2):c.1079G>A (p.Arg360Gln)	PRB2 (R360Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272434	NM_006248.4(PRB2):c.332C>T (p.Pro111Leu)	PRB2 (P111L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265280	NM_006248.4(PRB2):c.641G>T (p.Gly214Val)	PRB2 (G214V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248287	NM_006248.4(PRB2):c.239G>A (p.Gly80Glu)	PRB2 (G80E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246872	NM_006248.4(PRB2):c.298G>A (p.Gly100Arg)	PRB2 (G100R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242264	NM_006248.4(PRB2):c.181C>A (p.Pro61Thr)	PRB2 (P61T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239236	NM_006248.4(PRB2):c.521G>A (p.Arg174Gln)	PRB2 (R174Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225886	NM_006248.4(PRB2):c.1120G>A (p.Gly374Ser)	PRB2 (G374S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221992	NM_006248.4(PRB2):c.35C>T (p.Ala12Val)	PRB2 (A12V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215342	NM_006248.4(PRB2):c.748G>A (p.Gly250Ser)	PRB2 (G250S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210654	NM_006248.4(PRB2):c.688A>G (p.Asn230Asp)	PRB2 (N230D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209538	NM_006248.4(PRB2):c.178C>T (p.Pro60Ser)	PRB2 (P60S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207612	NM_006248.4(PRB2):c.61G>A (p.Glu21Lys)	PRB2 (E21K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205080	NM_006248.4(PRB2):c.763G>C (p.Gly255Arg)	PRB2 (G255R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711362	GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1	C12orf60, YBX3 +85 more	Copy number loss	not provided	GPathogenic
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 815504	GRCh37/hg19 12p13.2(chr12:11503224-11714709)x3	PRB2, PRB1	Copy number gain	not provided	GUncertain significance
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 625809	GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	A2M, A2ML1 +193 more	Copy number gain	not provided	GPathogenic
Select item 625596	GRCh37/hg19 12p13.2-13.1(chr12:10336209-13535349)	APOLD1, BCL2L14 +47 more	Copy number loss	Multiple endocrine neoplasia type 4	GPathogenic
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563981	GRCh37/hg19 12p13.2-13.1(chr12:10717428-14032860)x1	APOLD1, BCL2L14 +40 more	Copy number loss	not provided	GPathogenic
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 442129	GRCh37/hg19 12p13.2(chr12:11047687-11751920)x4	PRB1, PRB2 +13 more	Copy number gain	See cases	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441823	GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3	A2M, A2ML1 +166 more	Copy number gain	See cases	GPathogenic
Select item 441015	NM_006248.4(PRB2):c.511C>T (p.Arg171Ter)	PRB2 (R171*)	Single nucleotide variant (nonsense)	not provided	Gnot provided
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 221369	chr12:10074776-18800953 complex variant	APOLD1, ARHGDIB +79 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 154815	GRCh38/hg38 12p13.2-12.3(chr12:11121039-15908154)x1	APOLD1, ARHGDIB +238 more	Copy number loss	See cases	GLikely pathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic

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