RERGL[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 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 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 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 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 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 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 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 146315	GRCh38/hg38 12p12.3-12.1(chr12:15840854-22021652)x1	ABCC9, AEBP2 +101 more	Copy number loss	See cases	GPathogenic
Select item 154021	GRCh38/hg38 12p12.3(chr12:17543965-18266361)x3	LINC02378, LOC110120899 +4 more	Copy number gain	See cases	GUncertain significance
Select item 155325	GRCh38/hg38 12p12.3(chr12:17792015-18095494)x1	RERGL	Copy number loss	See cases	GUncertain significance
Select item 3313657	NM_001286201.2(RERGL):c.565A>G (p.Met189Val)	RERGL (M189V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153031	NM_001286201.2(RERGL):c.559A>G (p.Lys187Glu)	RERGL (K188E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619882	NM_001286201.2(RERGL):c.545G>T (p.Arg182Leu)	RERGL (R182L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460201	NM_001286201.2(RERGL):c.544C>T (p.Arg182Cys)	RERGL (R182C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153030	NM_001286201.2(RERGL):c.519A>G (p.Ile173Met)	RERGL (I173M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153029	NM_001286201.2(RERGL):c.486G>A (p.Met162Ile)	RERGL (M162I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153028	NM_001286201.2(RERGL):c.478G>A (p.Val160Met)	RERGL (V160M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 161770	NM_001286201.2(RERGL):c.412C>A (p.Gln138Lys)	RERGL (Q139K +1 more)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 2368368	NM_001286201.2(RERGL):c.349G>T (p.Val117Leu)	RERGL (V117L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313654	NM_001286201.2(RERGL):c.287C>T (p.Ala96Val)	RERGL (A96V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272336	NM_001286201.2(RERGL):c.265T>A (p.Ser89Thr)	RERGL (S89T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605565	NM_001286201.2(RERGL):c.209C>A (p.Thr70Lys)	RERGL (T71K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714175	NM_001286201.2(RERGL):c.117_120del (p.Tyr40fs)	RERGL (Y40fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided	GBenign
Select item 3153027	NM_001286201.2(RERGL):c.101C>T (p.Ser34Phe)	RERGL (S34F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313653	NM_001286201.2(RERGL):c.97G>T (p.Ala33Ser)	RERGL (A33S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313658	NM_001286201.2(RERGL):c.85A>G (p.Ile29Val)	RERGL (I29V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550013	NM_001286201.2(RERGL):c.53-310T>A	RERGL (H6Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313655	NM_001286201.2(RERGL):c.53-314T>G	RERGL (L5W)	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 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	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 1711362	GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1	C12orf60, YBX3 +85 more	Copy number loss	not provided	GPathogenic
Select item 1527688	GRCh37/hg19 12p12.3-11.23(chr12:17884992-26704895)	ABCC9, AEBP2 +35 more	Copy number gain	not specified	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 1340493	GRCh37/hg19 12p12.3(chr12:17595624-18236175)x3	RERGL	Copy number gain	not provided	GUncertain significance
Select item 815510	GRCh37/hg19 12p12.3(chr12:16885566-18472797)x1	PIK3C2G, RERGL	Copy number loss	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 689124	GRCh37/hg19 12p12.3-11.23(chr12:16141429-27733325)x1	SMCO2, SOX5 +48 more	Copy number loss	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 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 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 443273	GRCh37/hg19 12p12.3(chr12:18206063-18999604)x3	CAPZA3, PIK3C2G +2 more	Copy number gain	See cases	GUncertain significance
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 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 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 395235	GRCh37/hg19 12p12.3-11.23(chr12:18037107-26681362)x3	ABCC9, AEBP2 +35 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

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Items: 57