PAQR6[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 149955	GRCh38/hg38 1q22(chr1:155834419-156434205)x3	ARHGEF2, ARHGEF2-AS2 +90 more	Copy number gain	See cases	GUncertain significance
Select item 126864	NM_199173.4(BGLAP):c.*304G>A	BGLAP, PAQR6	Single nucleotide variant (3 prime UTR variant +1 more)	Calcium oxalate urolithiasis	Gassociation
Select item 2555688	NM_198406.3(PAQR6):c.*240G>C	PAQR6 (R203T +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3208544	NM_198406.3(PAQR6):c.*219G>T	PAQR6 (G196V +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3304303	NM_198406.3(PAQR6):c.*168G>A	PAQR6 (G251E +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3208553	NM_198406.3(PAQR6):c.*59G>C	PAQR6 (E143Q +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2255157	NM_198406.3(PAQR6):c.*47A>G	PAQR6 (S139G +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2550685	NM_198406.3(PAQR6):c.1025A>C (p.Lys342Thr)	PAQR6 (K236T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550684	NM_198406.3(PAQR6):c.1024A>T (p.Lys342Ter)	PAQR6 (K339* +3 more)	Single nucleotide variant (nonsense +2 more)	not specified	GLikely benign
Select item 2319389	NM_198406.3(PAQR6):c.957C>A (p.Thr319=)	PAQR6 (P169H +2 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3208549	NM_198406.3(PAQR6):c.830C>T (p.Ala277Val)	PAQR6 (A171V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2331671	NM_198406.3(PAQR6):c.826C>G (p.Leu276Val)	PAQR6 (C53W +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304302	NM_198406.3(PAQR6):c.760+63A>G	PAQR6 (M101V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2348633	NM_198406.3(PAQR6):c.760+60A>G	PAQR6 (R100G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298971	NM_198406.3(PAQR6):c.760+57C>T	PAQR6 (H99Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539185	NM_198406.3(PAQR6):c.760+24C>T	PAQR6 (R156W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2472917	NM_198406.3(PAQR6):c.760+19C>T	PAQR6 (P86L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2377091	NM_198406.3(PAQR6):c.731G>C (p.Arg244Thr)	PAQR6 (R138T +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3208548	NM_198406.3(PAQR6):c.722T>C (p.Leu241Pro)	PAQR6 (L238P +4 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2541356	NM_198406.3(PAQR6):c.689C>T (p.Ala230Val)	PAQR6 (A227V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2318222	NM_198406.3(PAQR6):c.670G>A (p.Gly224Ser)	PAQR6 (G224S +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2363463	NM_198406.3(PAQR6):c.629G>A (p.Arg210Lys)	PAQR6 (R210K +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3208547	NM_198406.3(PAQR6):c.575C>G (p.Pro192Arg)	PAQR6 (P81R +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3208546	NM_198406.3(PAQR6):c.553C>T (p.Arg185Cys)	PAQR6 (R182C +3 more)	Single nucleotide variant (missense variant +4 more)	not specified	GUncertain significance
Select item 3208545	NM_198406.3(PAQR6):c.550C>T (p.Leu184Phe)	PAQR6 (L181F +3 more)	Single nucleotide variant (missense variant +4 more)	not specified	GUncertain significance
Select item 2456984	NM_198406.3(PAQR6):c.424T>A (p.Ser142Thr)	LOC129931613, PAQR6 (S36T +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2461066	NM_198406.3(PAQR6):c.407C>T (p.Ala136Val)	LOC129931613, PAQR6 (A30V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3208552	NM_198406.3(PAQR6):c.398C>T (p.Pro133Leu)	PAQR6, LOC129931613 (P130L +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3208551	NM_198406.3(PAQR6):c.388T>C (p.Cys130Arg)	LOC129931613, PAQR6 (C127R +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3208550	NM_198406.3(PAQR6):c.379A>G (p.Ser127Gly)	PAQR6 (S21G +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3242278	GRCh37/hg19 1q22-23.2(chr1:155709113-159191078)x3	ACKR1, AIM2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2685831	GRCh37/hg19 1q22(chr1:155864518-156213257)x3	ARHGEF2, BGLAP +14 more	Copy number gain	not provided	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1527315	GRCh37/hg19 1q22(chr1:156034721-156240338)	BGLAP, SEMA4A +8 more	Copy number gain	not specified	GUncertain significance
Select item 1460461	NC_000001.10:g.(?_155581953)_(156851434_?)del	ARHGEF2, BCAN +45 more	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 1450274	NC_000001.10:g.(?_154141761)_(156851434_?)dup	ADAM15, ADAR +90 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	CRTC2, KHDC4 +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 688120	GRCh37/hg19 1q22-23.1(chr1:155770505-156652136)x3	ARHGEF2, BCAN +33 more	Copy number gain	not provided	GUncertain significance
Select item 685546	GRCh37/hg19 1q22(chr1:156037369-156463980)x3	BGLAP, CCT3 +17 more	Copy number gain	not provided	GUncertain significance
Select item 617477	LMNA-NTRK1 fusion	NES, NTRK1 +31 more	Fusion	Congenital fibrosarcoma	GPathogenic
Select item 565184	GRCh37/hg19 1q22-23.1(chr1:155999570-156844432)x3	BCAN, BGLAP +35 more	Copy number gain	not provided	GUncertain significance
Select item 565183	GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1	ARHGEF11, ARHGEF2 +57 more	Copy number loss	not provided	GPathogenic
Select item 503582	GRCh37/hg19 1q22(chr1:156070888-156238593)x1	SMG5, BGLAP +6 more	Copy number loss	See cases	GPathogenic
Select item 495229	Single allele	BGLAP, C1orf43 +90 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 493594	GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3	ADAR, PYGO2 +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 53