ClinVar for Gene (Select 5544) - ClinVar

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Links from Gene

Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3218277	NM_001394862.1(PRB3):c.514C>A (p.Gln172Lys)	PRB3 (Q172K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218276	NM_001394862.1(PRB3):c.278C>T (p.Pro93Leu)	PRB3 (P93L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218274	NM_001394862.1(PRB3):c.134A>G (p.Asn45Ser)	PRB3 (N45S)	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 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2642714	NM_001394862.1(PRB3):c.154C>T (p.Pro52Ser)	PRB3 (P52S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2642713	NM_001394862.1(PRB3):c.258A>C (p.Gly86=)	PRB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642712	NM_001394862.1(PRB3):c.410G>A (p.Arg137His)	PRB3 (R137H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2642711	NM_001394862.1(PRB3):c.447A>C (p.Gly149=)	PRB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642710	NM_001394862.1(PRB3):c.468G>A (p.Pro156=)	PRB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642709	NM_001394862.1(PRB3):c.557C>A (p.Pro186Gln)	PRB3 (P186Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2642708	NM_001394862.1(PRB3):c.792A>G (p.Pro264=)	PRB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642707	NM_001394862.1(PRB3):c.796A>G (p.Lys266Glu)	PRB3 (K224E +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2569662	NM_001394862.1(PRB3):c.148A>C (p.Thr50Pro)	PRB3 (T50P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2556971	NM_001394862.1(PRB3):c.71G>A (p.Ser24Asn)	PRB3 (S24N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495738	NM_001394862.1(PRB3):c.380G>A (p.Gly127Glu)	PRB3 (G127E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488916	NM_001394862.1(PRB3):c.337C>A (p.Pro113Thr)	PRB3 (P113T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477908	NM_001394862.1(PRB3):c.530C>T (p.Pro177Leu)	PRB3 (P177L)	Single nucleotide variant (missense 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 2374987	NM_001394862.1(PRB3):c.302G>A (p.Gly101Glu)	PRB3 (G101E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374986	NM_001394862.1(PRB3):c.179G>C (p.Arg60Pro)	PRB3 (R60P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2367651	NM_001394862.1(PRB3):c.181C>A (p.Pro61Thr)	PRB3 (P61T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363215	NM_001394862.1(PRB3):c.831A>C (p.Lys277Asn)	PRB3 (K277N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354378	NM_001394862.1(PRB3):c.256G>A (p.Gly86Arg)	PRB3 (G86R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348009	NM_001394862.1(PRB3):c.71G>T (p.Ser24Ile)	PRB3 (S24I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2345433	NM_001394862.1(PRB3):c.431C>A (p.Pro144Gln)	PRB3 (P144Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344206	NM_001394862.1(PRB3):c.494C>A (p.Pro165Gln)	PRB3 (P165Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334540	NM_001394862.1(PRB3):c.548C>T (p.Pro183Leu)	PRB3 (P183L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331435	NM_001394862.1(PRB3):c.875C>T (p.Pro292Leu)	PRB3 (P250L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318578	NM_001394862.1(PRB3):c.257G>A (p.Gly86Glu)	PRB3 (G86E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315727	NM_001394862.1(PRB3):c.131G>A (p.Gly44Glu)	PRB3 (G44E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279272	NM_001394862.1(PRB3):c.431C>G (p.Pro144Arg)	PRB3 (P144R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278515	NM_001394862.1(PRB3):c.172G>C (p.Glu58Gln)	PRB3 (E58Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261596	NM_001394862.1(PRB3):c.854C>T (p.Pro285Leu)	PRB3 (P285L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253831	NM_001394862.1(PRB3):c.820G>A (p.Gly274Arg)	PRB3 (G274R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224763	NM_001394862.1(PRB3):c.182C>G (p.Pro61Arg)	PRB3 (P61R)	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 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 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
Select item 13734	NM_001394862.1(PRB3):c.848dup (p.His284fs)	PRB3 (H242fs +1 more)	Duplication (frameshift variant)	PRB3M(NULL)	GPathogenic
Select item 13733	NM_001394862.1(PRB3):c.145C>T (p.Arg49Cys)	PRB3 (R49C)	Single nucleotide variant (missense variant)	PRB3S(CYS)	GPathogenic

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Links from Gene

Items: 73