ClinVar for Gene (Select 5542) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309702	NM_005039.3(PRB1):c.706C>G	PRB1	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3309700	NM_005039.3(PRB1):c.731C>T	PRB1	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3309699	NM_005039.3(PRB1):c.364C>T	PRB1	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3234191	NR_160307.2(PRB1):n.895A>C	PRB1	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 3234175	NR_160307.2(PRB1):n.788A>G	PRB1	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 3218259	NM_006248.4(PRB2):c.95T>C (p.Ile32Thr)	PRB1 (I32T)	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3218257	NM_006248.4(PRB2):c.1109C>T (p.Pro370Leu)	PRB1 (P285L)	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3218256	NM_006248.4(PRB2):c.1025C>G (p.Pro342Arg)	PRB1 (P257R)	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3218255	NM_006248.4(PRB2):c.980G>T (p.Gly327Val)	PRB1 (G242V)	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3218254	NM_006248.4(PRB2):c.949G>A (p.Gly317Ser)	PRB1 (G232S)	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3218253	NM_006248.4(PRB2):c.947A>G (p.Gln316Arg)	PRB1 (Q231R)	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3218252	NM_006248.4(PRB2):c.943C>T (p.Pro315Ser)	PRB1 (P230S)	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3218251	NM_006248.4(PRB2):c.942G>C (p.Gln314His)	PRB1 (Q229H)	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3218250	NM_006248.4(PRB2):c.935G>A (p.Gly312Asp)	PRB1 (G227D)	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3218248	NM_006248.4(PRB2):c.776C>T (p.Pro259Leu)	PRB1 (P175L)	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3218247	NM_006248.4(PRB2):c.719G>A (p.Gly240Glu)	PRB1 (G156E)	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3218246	NM_006248.4(PRB2):c.578G>T (p.Gly193Val)	PRB1 (G110V)	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3218245	NM_006248.4(PRB2):c.559G>A (p.Gly187Arg)	PRB1 (G104R)	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3218243	NM_006248.4(PRB2):c.443A>G (p.Asn148Ser)	PRB1 (N66S)	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3218242	NM_006248.4(PRB2):c.442A>G (p.Asn148Asp)	PRB1 (N66D)	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3218241	NM_006248.4(PRB2):c.437G>A (p.Gly146Glu)	PRB1 (G64E)	Single nucleotide variant (non-coding transcript 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 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2642721	NR_160307.2(PRB1):n.124C>T	PRB1	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 2561311	NM_006248.4(PRB2):c.1064A>T (p.Lys355Met)	PRB1 (K270M)	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2547058	NM_006248.4(PRB2):c.439G>A (p.Gly147Ser)	PRB1 (G65S)	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2539403	NM_006248.4(PRB2):c.377G>A (p.Gly126Asp)	PRB1 (G44D)	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2524663	NM_006248.4(PRB2):c.1147C>A (p.Pro383Thr)	PRB1 (P298T)	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2516090	NM_006248.4(PRB2):c.1205C>A (p.Pro402Gln)	PRB1 (P317Q)	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2513695	NM_006248.4(PRB2):c.382= (p.Gln128=)	PRB1 (K46Q)	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2509333	NM_006248.4(PRB2):c.1204C>A (p.Pro402Thr)	PRB1 (P317T)	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2506545	GRCh37/hg19 12p13.2-13.1(chr12:11463270-14019142)	BORCS5, GPRC5D +19 more	Copy number loss	Intellectual disability	GPathogenic
Select item 2493335	NM_006248.4(PRB2):c.374G>A (p.Gly125Glu)	PRB1 (G43E)	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2480643	NM_006248.4(PRB2):c.460C>T (p.Pro154Ser)	PRB1 (P72S)	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2454370	NM_006248.4(PRB2):c.925C>G (p.Pro309Ala)	PRB1 (P224A)	Single nucleotide variant (non-coding transcript variant)	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 (R319H)	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2360792	NM_006248.4(PRB2):c.503A>T (p.Asn168Ile)	PRB1 (D85V)	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2352553	NM_006248.4(PRB2):c.40A>G (p.Ser14Gly)	PRB1 (S14G)	Single nucleotide variant (non-coding transcript variant)	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)	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2340035	NM_006248.4(PRB2):c.1121G>A (p.Gly374Asp)	PRB1 (G289D)	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2322172	NM_006248.4(PRB2):c.497G>C (p.Gly166Ala)	PRB1 (G84A)	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2312855	NM_006248.4(PRB2):c.1114C>A (p.Gln372Lys)	PRB1 (Q287K)	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2310224	NM_006248.4(PRB2):c.760C>A (p.Gln254Lys)	PRB1 (Q170K)	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2298727	NM_006248.4(PRB2):c.352C>A (p.Pro118Thr)	PRB1 (P36T)	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2283697	NM_006248.4(PRB2):c.952C>A (p.Pro318Thr)	PRB1 (P233T)	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2272686	NM_006248.4(PRB2):c.1003A>C (p.Lys335Gln)	PRB1 (K250Q)	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2262308	NM_006248.4(PRB2):c.550C>T (p.Pro184Ser)	PRB1 (P101S)	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2249854	NM_006248.4(PRB2):c.41G>A (p.Ser14Asn)	PRB1 (S14N)	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2239996	NM_006248.4(PRB2):c.1223G>C (p.Gly408Ala)	PRB1 (G323A)	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2220866	NM_006248.4(PRB2):c.995G>A (p.Gly332Glu)	PRB1 (G247E)	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2211125	NM_006248.4(PRB2):c.835C>G (p.Pro279Ala)	PRB1 (P195A)	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 1711362	GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1	FAM234B, GOLT1B +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 (non-coding transcript variant)	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)	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 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
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 90