8646[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 153538	GRCh38/hg38 10q22.1(chr10:70596378-71288228)x3	ADAMTS14, LINC02622 +26 more	Copy number gain	See cases	GUncertain significance
Select item 300341	NM_000281.4(PCBD1):c.*402GT[1]	PCBD1	Microsatellite (3 prime UTR variant +1 more)	BH4-Deficient Hyperphenylalaninemia	GUncertain significance
Select item 300342	NM_000281.4(PCBD1):c.*253T>A	PCBD1	Single nucleotide variant (3 prime UTR variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency +1 more	GBenign/Likely benign
Select item 300343	NM_000281.4(PCBD1):c.*116C>T	PCBD1	Single nucleotide variant (3 prime UTR variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GUncertain significance
Select item 300344	NM_000281.4(PCBD1):c.*114G>A	PCBD1	Single nucleotide variant (3 prime UTR variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
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 300345	NM_000281.4(PCBD1):c.*36G>A	PCBD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 300346	NM_000281.4(PCBD1):c.*29G>A	PCBD1	Single nucleotide variant (3 prime UTR variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GUncertain significance
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
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 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 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 16799	NM_000281.4(PCBD1):c.292C>T (p.Gln98Ter)	PCBD1 (Q98* +1 more)	Single nucleotide variant (nonsense +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GPathogenic/Likely pathogenic
Select item 91907	NM_000281.4(PCBD1):c.289G>A (p.Glu97Lys)	PCBD1 (E97K +1 more)	Single nucleotide variant (missense variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely pathogenic
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 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 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 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 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 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 242621	NM_000281.4(PCBD1):c.263G>A (p.Arg88Gln)	PCBD1 (R88Q +1 more)	Single nucleotide variant (missense variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency +2 more	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 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 16795	NM_000281.4(PCBD1):c.259G>T (p.Glu87Ter)	PCBD1 (E87* +1 more)	Single nucleotide variant (nonsense +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GPathogenic/Likely pathogenic
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 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 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 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 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 16796	NM_000281.4(PCBD1):c.244T>C (p.Cys82Arg)	PCBD1 (C82R +1 more)	Single nucleotide variant (missense variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely pathogenic
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 16797	NM_000281.4(PCBD1):c.236C>T (p.Thr79Ile)	PCBD1 (T79I +1 more)	Single nucleotide variant (missense variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GUncertain significance
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 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 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 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 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 1192958	NM_000281.4(PCBD1):c.216+181dup	PCBD1	Duplication (intron variant)	not provided	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 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 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 91906	NM_000281.4(PCBD1):c.210CAA[1] (p.Asn71del)	PCBD1 (N71del +1 more)	Microsatellite (inframe_deletion)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	Gnot provided
Select item 300347	NM_000281.4(PCBD1):c.205G>A (p.Val69Met)	PCBD1 (V69M +1 more)	Single nucleotide variant (missense variant)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GUncertain significance
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 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 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 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 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 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 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 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 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 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 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 2640563	NM_000281.4(PCBD1):c.136-25C>G	PCBD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291522	NM_000281.4(PCBD1):c.136-211A>G	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 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 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 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 2777867	NM_000281.4(PCBD1):c.126C>T (p.Asp42=)	PCBD1	Single nucleotide variant (5 prime UTR variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
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 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 2912706	NM_000281.4(PCBD1):c.111del (p.Gln37fs)	PCBD1 (Q37fs)	Deletion (5 prime UTR variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GPathogenic
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 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 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 242620	NM_000281.4(PCBD1):c.79G>T (p.Glu27Ter)	PCBD1 (E27*)	Single nucleotide variant (nonsense +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 180130	NM_000281.3(PCBD1):c.[79G>T;263G>A]	PCBD1 (E27* +2 more)	Single nucleotide variant (nonsense +3 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GPathogenic
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 2870176	NM_000281.4(PCBD1):c.66T>C (p.Ala22=)	PCBD1	Single nucleotide variant (5 prime UTR variant +1 more)	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 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 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 1973135	NM_000281.4(PCBD1):c.48G>T (p.Leu16=)	PCBD1	Single nucleotide variant (5 prime UTR variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely benign
Select item 91905	NM_000281.4(PCBD1):c.46del (p.Leu16fs)	PCBD1 (L16fs)	Deletion (frameshift variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GPathogenic
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 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 1971225	NM_000281.4(PCBD1):c.37A>T (p.Arg13Trp)	PCBD1 (R13W)	Single nucleotide variant (missense variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency +1 more	GUncertain significance
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 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 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 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 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 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 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 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 2859004	NM_000281.4(PCBD1):c.4-12del	PCBD1	Deletion (intron variant)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GBenign
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 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 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 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

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