ClinVar for Gene (Select 5542) - ClinVar

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Links from Gene

Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234191	Q286P	PRB1 (Q286P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3234175	NM_006248.4(PRB2):c.1005A>G (p.Lys335=)	PRB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3218259	NM_006248.4(PRB2):c.95T>C (p.Ile32Thr)	PRB1 (I32T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218257	NM_006248.4(PRB2):c.1109C>T (p.Pro370Leu)	PRB1 (P370L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218256	NM_006248.4(PRB2):c.1025C>G (p.Pro342Arg)	PRB1 (P342R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218255	NM_006248.4(PRB2):c.980G>T (p.Gly327Val)	PRB1 (G327V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218254	NM_006248.4(PRB2):c.949G>A (p.Gly317Ser)	PRB1 (G317S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218253	NM_006248.4(PRB2):c.947A>G (p.Gln316Arg)	PRB1 (Q316R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218252	NM_006248.4(PRB2):c.943C>T (p.Pro315Ser)	PRB1 (P230S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218251	NM_006248.4(PRB2):c.942G>C (p.Gln314His)	PRB1 (Q229H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218250	NM_006248.4(PRB2):c.935G>A (p.Gly312Asp)	PRB1 (G227D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218248	NM_006248.4(PRB2):c.776C>T (p.Pro259Leu)	PRB1 (P175L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218247	NM_006248.4(PRB2):c.719G>A (p.Gly240Glu)	PRB1 (G240E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218246	NM_006248.4(PRB2):c.578G>T (p.Gly193Val)	PRB1 (G110V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218245	NM_006248.4(PRB2):c.559G>A (p.Gly187Arg)	PRB1 (G104R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218243	NM_006248.4(PRB2):c.443A>G (p.Asn148Ser)	PRB1 (N333S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218242	NM_006248.4(PRB2):c.442A>G (p.Asn148Asp)	PRB1 (N148D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218241	NM_006248.4(PRB2):c.437G>A (p.Gly146Glu)	PRB1 (G331E +2 more)	Single nucleotide variant (missense variant +1 more)	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 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2642721	NM_006248.4(PRB2):c.86C>T (p.Pro29Leu)	PRB1 (P29L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2561311	NM_006248.4(PRB2):c.1064A>T (p.Lys355Met)	PRB1 (K270M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547058	NM_006248.4(PRB2):c.439G>A (p.Gly147Ser)	PRB1 (G65S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539403	NM_006248.4(PRB2):c.377G>A (p.Gly126Asp)	PRB1 (G126D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524663	NM_006248.4(PRB2):c.1147C>A (p.Pro383Thr)	PRB1 (P383T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516090	NM_006248.4(PRB2):c.1205C>A (p.Pro402Gln)	PRB1 (P317Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513695	NM_006248.4(PRB2):c.382= (p.Gln128=)	PRB1 (K46Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2509333	NM_006248.4(PRB2):c.1204C>A (p.Pro402Thr)	PRB1 (P587T +2 more)	Single nucleotide variant (missense variant +1 more)	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 2493335	NM_006248.4(PRB2):c.374G>A (p.Gly125Glu)	PRB1 (G125E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480643	NM_006248.4(PRB2):c.460C>T (p.Pro154Ser)	PRB1 (P72S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454370	NM_006248.4(PRB2):c.925C>G (p.Pro309Ala)	PRB1 (P224A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2367912	NM_006248.4(PRB2):c.1211G>A (p.Arg404His)	PRB1 (R589H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360792	NM_006248.4(PRB2):c.503A>T (p.Asn168Ile)	PRB1 (D85V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352553	NM_006248.4(PRB2):c.40A>G (p.Ser14Gly)	PRB1 (S14G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343274	NM_005039.4(PRB1):c.824G>A (p.Arg275Gln)	PRB1 (R545Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341562	NM_006248.4(PRB2):c.583C>T (p.Pro195Ser)	PRB1 (P112S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340035	NM_006248.4(PRB2):c.1121G>A (p.Gly374Asp)	PRB1 (G289D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322172	NM_006248.4(PRB2):c.497G>C (p.Gly166Ala)	PRB1 (G351A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312855	NM_006248.4(PRB2):c.1114C>A (p.Gln372Lys)	PRB1 (Q557K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310224	NM_006248.4(PRB2):c.760C>A (p.Gln254Lys)	PRB1 (Q439K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298727	NM_006248.4(PRB2):c.352C>A (p.Pro118Thr)	PRB1 (P303T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283697	NM_006248.4(PRB2):c.952C>A (p.Pro318Thr)	PRB1 (P233T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272686	NM_006248.4(PRB2):c.1003A>C (p.Lys335Gln)	PRB1 (K250Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262308	NM_006248.4(PRB2):c.550C>T (p.Pro184Ser)	PRB1 (P184S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249854	NM_006248.4(PRB2):c.41G>A (p.Ser14Asn)	PRB1 (S14N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239996	NM_006248.4(PRB2):c.1223G>C (p.Gly408Ala)	PRB1 (G408A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220866	NM_006248.4(PRB2):c.995G>A (p.Gly332Glu)	PRB1 (G332E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211125	NM_006248.4(PRB2):c.835C>G (p.Pro279Ala)	PRB1 (P195A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1711362	GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1	EPS8, ERP27 +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 718748	NM_006248.4(PRB2):c.4C>T (p.Leu2=)	PRB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +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 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	AGAP2, ARF3 +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	LOC130008916, LOC130008917 +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
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 87