ClinVar for Gene (Select 5092) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244843	NC_000010.10:g.(?_72643707)_(72645009_?)del	PCBD1	Deletion	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GPathogenic
Select item 3244842	NC_000010.10:g.(?_72643707)_(72648290_?)del	PCBD1	Deletion	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GPathogenic
Select item 3022206	NM_000281.4(PCBD1):c.270A>C (p.Ile90=)	PCBD1	Single nucleotide variant (synonymous variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 3003037	NM_000281.4(PCBD1):c.3+1G>T	LOC130004020, PCBD1	Single nucleotide variant (splice donor variant)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely pathogenic
Select item 2999004	NM_000281.4(PCBD1):c.189T>C (p.His63=)	PCBD1	Single nucleotide variant (synonymous variant)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 2984867	NM_000281.4(PCBD1):c.3+13G>T	LOC130004020, PCBD1	Single nucleotide variant (intron variant)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 2977603	NM_000281.4(PCBD1):c.252C>G (p.Gly84=)	PCBD1	Single nucleotide variant (synonymous variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 2971771	NM_000281.4(PCBD1):c.300A>C (p.Ala100=)	PCBD1	Single nucleotide variant (synonymous variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 2963885	NM_000281.4(PCBD1):c.4-7C>A	PCBD1	Single nucleotide variant (intron variant)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 2961010	NM_000281.4(PCBD1):c.4-12dup	PCBD1	Duplication (intron variant)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GBenign
Select item 2920299	NM_000281.4(PCBD1):c.165G>A (p.Leu55=)	PCBD1	Single nucleotide variant (synonymous variant)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 2912706	NM_000281.4(PCBD1):c.111del (p.Gln37fs)	PCBD1 (Q37fs)	Deletion (frameshift variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GPathogenic
Select item 2904558	NM_000281.4(PCBD1):c.4-21_4-20del	PCBD1	Microsatellite (intron variant)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 2887922	NM_000281.4(PCBD1):c.61A>C (p.Arg21=)	PCBD1	Single nucleotide variant (synonymous variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 2873674	NM_000281.4(PCBD1):c.162C>T (p.Ala54=)	PCBD1	Single nucleotide variant (synonymous variant)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 2870176	NM_000281.4(PCBD1):c.66T>C (p.Ala22=)	PCBD1	Single nucleotide variant (synonymous variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 2859004	NM_000281.4(PCBD1):c.4-12del	PCBD1	Deletion (intron variant)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GBenign
Select item 2857758	NM_000281.4(PCBD1):c.217-16T>G	PCBD1	Single nucleotide variant (intron variant)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 2843846	NM_000281.4(PCBD1):c.3+11G>T	LOC130004020, PCBD1	Single nucleotide variant (intron variant)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 2839151	NM_000281.4(PCBD1):c.4-11C>T	PCBD1	Single nucleotide variant (intron variant)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 2825465	NM_000281.4(PCBD1):c.102C>T (p.Ile34=)	PCBD1	Single nucleotide variant (synonymous variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 2821879	NM_000281.4(PCBD1):c.136-11C>T	PCBD1	Single nucleotide variant (intron variant)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 2809028	NM_000281.4(PCBD1):c.222C>T (p.His74=)	PCBD1	Single nucleotide variant (synonymous variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 2806839	NM_000281.4(PCBD1):c.3+14T>A	LOC130004020, PCBD1	Single nucleotide variant (intron variant)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 2804934	NM_000281.4(PCBD1):c.216+15G>T	PCBD1	Single nucleotide variant (intron variant)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 2802908	NM_000281.4(PCBD1):c.24G>A (p.Leu8=)	PCBD1	Single nucleotide variant (synonymous variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 2802402	NM_000281.4(PCBD1):c.136-18C>T	PCBD1	Single nucleotide variant (intron variant)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 2778732	NM_000281.4(PCBD1):c.262C>A (p.Arg88=)	PCBD1	Single nucleotide variant (synonymous variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 2778189	NM_000281.4(PCBD1):c.252C>T (p.Gly84=)	PCBD1	Single nucleotide variant (synonymous variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 2777867	NM_000281.4(PCBD1):c.126C>T (p.Asp42=)	PCBD1	Single nucleotide variant (synonymous variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 2758157	NM_000281.4(PCBD1):c.141T>C (p.Phe47=)	PCBD1	Single nucleotide variant (synonymous variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 2755649	NM_000281.4(PCBD1):c.136-12C>G	PCBD1	Single nucleotide variant (intron variant)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 2750436	NM_000281.4(PCBD1):c.72G>A (p.Gly24=)	PCBD1	Single nucleotide variant (synonymous variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 2746811	NM_000281.4(PCBD1):c.135+12G>C	PCBD1	Single nucleotide variant (intron variant)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 2745751	NM_000281.4(PCBD1):c.217-12G>A	PCBD1	Single nucleotide variant (intron variant)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 2745209	NM_000281.4(PCBD1):c.217-12G>T	PCBD1	Single nucleotide variant (intron variant)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 2740698	NM_000281.4(PCBD1):c.60G>C (p.Leu20=)	PCBD1	Single nucleotide variant (synonymous variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 2731855	NM_000281.4(PCBD1):c.111G>A (p.Gln37=)	PCBD1	Single nucleotide variant (synonymous variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 2697933	NM_000281.4(PCBD1):c.201dup (p.Asn68Ter)	PCBD1 (N19* +1 more)	Duplication (nonsense)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GPathogenic
Select item 2696217	NM_000281.4(PCBD1):c.4-18T>G	PCBD1	Single nucleotide variant (intron variant)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2640563	NM_000281.4(PCBD1):c.136-25C>G	PCBD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2640562	NM_000281.4(PCBD1):c.252_254delinsGTGCTCACCATGGGTG (p.Leu85fs)	PCBD1 (L36fs +1 more)	Indel (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2550418	NM_000281.4(PCBD1):c.13G>A (p.Ala5Thr)	PCBD1 (A5T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2432444	NM_000281.4(PCBD1):c.117_121del (p.His39fs)	PCBD1 (H39fs)	Microsatellite (frameshift variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely pathogenic
Select item 2424788	NC_000010.10:g.(?_72576610)_(72648290_?)dup	PCBD1, SGPL1	Duplication	not provided	GUncertain significance
Select item 2201748	NM_000281.4(PCBD1):c.4-19G>C	PCBD1	Single nucleotide variant (intron variant)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 2197630	NM_000281.4(PCBD1):c.135+7C>T	PCBD1	Single nucleotide variant (intron variant)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 2194208	NM_000281.4(PCBD1):c.3+18C>T	LOC130004020, PCBD1	Single nucleotide variant (intron variant)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 2184540	NM_000281.4(PCBD1):c.4-6T>C	PCBD1	Single nucleotide variant (intron variant)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 2177603	NM_000281.4(PCBD1):c.288C>T (p.Ile96=)	PCBD1	Single nucleotide variant (synonymous variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 2173850	NM_000281.4(PCBD1):c.217-11T>C	PCBD1	Single nucleotide variant (intron variant)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 2160145	NM_000281.4(PCBD1):c.45G>C (p.Gln15His)	PCBD1 (Q15H)	Single nucleotide variant (missense variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GUncertain significance
Select item 2123685	NM_000281.4(PCBD1):c.135+16G>A	PCBD1	Single nucleotide variant (intron variant)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GUncertain significance
Select item 2099511	NM_000281.4(PCBD1):c.308T>A (p.Met103Lys)	PCBD1 (M54K +1 more)	Single nucleotide variant (missense variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GUncertain significance
Select item 2085737	NM_000281.4(PCBD1):c.216+17G>A	PCBD1	Single nucleotide variant (intron variant)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 2046343	NM_000281.4(PCBD1):c.286A>G (p.Ile96Val)	PCBD1 (I96V +1 more)	Single nucleotide variant (missense variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GUncertain significance
Select item 1998490	NM_000281.4(PCBD1):c.45G>A (p.Gln15=)	PCBD1	Single nucleotide variant (synonymous variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 1996775	NM_000281.4(PCBD1):c.108_118del (p.Lys36fs)	PCBD1 (K36fs)	Deletion (frameshift variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GPathogenic
Select item 1980435	NM_000281.4(PCBD1):c.136-16C>T	PCBD1	Single nucleotide variant (intron variant)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 1973135	NM_000281.4(PCBD1):c.48G>T (p.Leu16=)	PCBD1	Single nucleotide variant (synonymous variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 1971225	NM_000281.4(PCBD1):c.37A>T (p.Arg13Trp)	PCBD1 (R13W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1951845	NM_000281.4(PCBD1):c.3+9A>G	LOC130004020, PCBD1	Single nucleotide variant (intron variant)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 1618395	NM_000281.4(PCBD1):c.4-4C>G	PCBD1	Single nucleotide variant (intron variant)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 1598500	NM_000281.4(PCBD1):c.216+18C>T	PCBD1	Single nucleotide variant (intron variant)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 1598103	NM_000281.4(PCBD1):c.57C>T (p.Asn19=)	PCBD1	Single nucleotide variant (synonymous variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 1582169	NM_000281.4(PCBD1):c.228G>A (p.Thr76=)	PCBD1	Single nucleotide variant (synonymous variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 1574898	NM_000281.4(PCBD1):c.246T>C (p.Cys82=)	PCBD1	Single nucleotide variant (synonymous variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 1527589	GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	ADAMTS14, ADK +91 more	Copy number loss	not specified	GPathogenic
Select item 1508980	NM_000281.4(PCBD1):c.294A>G (p.Gln98=)	PCBD1	Single nucleotide variant (synonymous variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GConflicting classifications of pathogenicity
Select item 1384033	NM_000281.4(PCBD1):c.262C>T (p.Arg88Trp)	PCBD1 (R88W +1 more)	Single nucleotide variant (missense variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GUncertain significance
Select item 1372630	NM_000281.4(PCBD1):c.5C>T (p.Ala2Val)	PCBD1 (A2V)	Single nucleotide variant (missense variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GUncertain significance
Select item 1291522	NM_000281.4(PCBD1):c.136-211A>G	PCBD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284221	NM_000281.4(PCBD1):c.3+202T>C	PCBD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278404	NM_000281.4(PCBD1):c.4-140T>C	PCBD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264604	NM_000281.4(PCBD1):c.4-280C>T	PCBD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250901	NC_000010.11:g.70888907T>G	PCBD1	Single nucleotide variant	not provided	GBenign
Select item 1246659	NM_000281.4(PCBD1):c.3+154T>C	PCBD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244417	NM_000281.4(PCBD1):c.3+205A>C	PCBD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235158	NM_000281.4(PCBD1):c.3+204G>A	PCBD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230309	NM_000281.4(PCBD1):c.136-262C>T	PCBD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192958	NM_000281.4(PCBD1):c.216+181dup	PCBD1	Duplication (intron variant)	not provided	GLikely benign
Select item 1187383	NM_000281.4(PCBD1):c.3+318G>A	PCBD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1145409	NM_000281.4(PCBD1):c.27C>T (p.Ser9=)	PCBD1	Single nucleotide variant (synonymous variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 1118849	NM_000281.4(PCBD1):c.264G>C (p.Arg88=)	PCBD1	Single nucleotide variant (synonymous variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 1104027	NM_000281.4(PCBD1):c.240T>C (p.His80=)	PCBD1	Single nucleotide variant (synonymous variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 1046659	NM_000281.4(PCBD1):c.91C>T (p.Arg31Cys)	PCBD1 (R31C)	Single nucleotide variant (missense variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GUncertain significance
Select item 948589	NM_000281.4(PCBD1):c.281G>T (p.Ser94Ile)	PCBD1 (S45I +1 more)	Single nucleotide variant (missense variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GUncertain significance
Select item 879954	NM_000281.4(PCBD1):c.*107C>T	PCBD1	Single nucleotide variant (3 prime UTR variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GUncertain significance
Select item 802585	NM_000281.4(PCBD1):c.272del (p.Asn91fs)	PCBD1 (N91fs +1 more)	Deletion (frameshift variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GPathogenic
Select item 751908	NM_000281.4(PCBD1):c.249C>T (p.Ala83=)	PCBD1	Single nucleotide variant (synonymous variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 722191	NM_000281.4(PCBD1):c.204C>T (p.Asn68=)	PCBD1	Single nucleotide variant (synonymous variant)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 533871	NM_000281.4(PCBD1):c.179T>C (p.Leu60Pro)	PCBD1 (L60P +1 more)	Single nucleotide variant (missense variant)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GUncertain significance
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 428616	NM_000281.4(PCBD1):c.313T>C (p.Ter105Gln)	PCBD1	Single nucleotide variant (stop lost +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GConflicting classifications of pathogenicity

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