PDE1C[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 147609	GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1	ABCB5, ADCYAP1R1 +387 more	Copy number loss	See cases	GPathogenic
Select item 57469	GRCh38/hg38 7p14.3(chr7:30420933-34560665)x3	ADCYAP1R1, AQP1 +85 more	Copy number gain	See cases	GPathogenic
Select item 152941	GRCh38/hg38 7p14.3(chr7:30938370-33400996)x1	ADCYAP1R1, AVL9 +54 more	Copy number loss	See cases	GLikely pathogenic
Select item 149526	GRCh38/hg38 7p14.3(chr7:31095071-31830903)x3	ADCYAP1R1, ITPRID1 +11 more	Copy number gain	See cases	GLikely benign
Select item 2511198	NM_001257967.3(ITPRID1):c.1266C>G (p.Asp422Glu)	ITPRID1, PDE1C (D422E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111824	NM_001257967.3(ITPRID1):c.1352G>A (p.Gly451Glu)	ITPRID1, PDE1C (G451E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111825	NM_001257967.3(ITPRID1):c.1373A>T (p.Gln458Leu)	ITPRID1, PDE1C (Q458L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111826	NM_001257967.3(ITPRID1):c.1399G>A (p.Asp467Asn)	ITPRID1, PDE1C (D467N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111827	NM_001257967.3(ITPRID1):c.1442C>T (p.Ala481Val)	ITPRID1, PDE1C (A481V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2484171	NM_001257967.3(ITPRID1):c.1504A>C (p.Met502Leu)	ITPRID1, PDE1C (M502L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2561458	NM_001257967.3(ITPRID1):c.1511A>G (p.Glu504Gly)	ITPRID1, PDE1C (E504G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111829	NM_001257967.3(ITPRID1):c.1536G>T (p.Glu512Asp)	ITPRID1, PDE1C (E512D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463918	NM_001257967.3(ITPRID1):c.1586C>T (p.Thr529Met)	ITPRID1, PDE1C (T529M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3111830	NM_001257967.3(ITPRID1):c.1832A>G (p.His611Arg)	ITPRID1, PDE1C (H611R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111831	NM_001257967.3(ITPRID1):c.1857A>C (p.Glu619Asp)	ITPRID1, PDE1C (E619D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111832	NM_001257967.3(ITPRID1):c.1903G>A (p.Val635Ile)	ITPRID1, PDE1C (V635I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111833	NM_001257967.3(ITPRID1):c.1910A>G (p.Glu637Gly)	ITPRID1, PDE1C (E637G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111834	NM_001257967.3(ITPRID1):c.1930C>T (p.Pro644Ser)	ITPRID1, PDE1C (P644S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111835	NM_001257967.3(ITPRID1):c.1943A>T (p.Glu648Val)	ITPRID1, PDE1C (E648V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515064	NM_001257967.3(ITPRID1):c.1955A>T (p.Tyr652Phe)	ITPRID1, PDE1C (Y652F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111836	NM_001257967.3(ITPRID1):c.2138C>T (p.Ser713Phe)	ITPRID1, PDE1C (S713F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111837	NM_001257967.3(ITPRID1):c.2252G>T (p.Gly751Val)	ITPRID1, PDE1C (G751V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111839	NM_001257967.3(ITPRID1):c.2332C>A (p.Pro778Thr)	ITPRID1, PDE1C (P778T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111840	NM_001257967.3(ITPRID1):c.2424C>G (p.Cys808Trp)	ITPRID1, PDE1C (C808W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111841	NM_001257967.3(ITPRID1):c.2447A>G (p.His816Arg)	ITPRID1, PDE1C (H816R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544193	NM_001257967.3(ITPRID1):c.2551C>T (p.Leu851Phe)	ITPRID1, PDE1C (L851F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111843	NM_001257967.3(ITPRID1):c.2588C>A (p.Thr863Lys)	ITPRID1, PDE1C (T863K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111844	NM_001257967.3(ITPRID1):c.2666T>C (p.Met889Thr)	ITPRID1, PDE1C (M889T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2594788	NM_001257967.3(ITPRID1):c.2792G>A (p.Arg931Gln)	ITPRID1, PDE1C (R931Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590244	NM_001257967.3(ITPRID1):c.2873A>C (p.His958Pro)	ITPRID1, PDE1C (H958P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111846	NM_001257967.3(ITPRID1):c.2884T>C (p.Trp962Arg)	ITPRID1, PDE1C (W962R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111847	NM_001257967.3(ITPRID1):c.3049C>T (p.Pro1017Ser)	ITPRID1, PDE1C (P1017S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2463845	NM_001257967.3(ITPRID1):c.3083C>A (p.Thr1028Asn)	ITPRID1, PDE1C (T1028N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3111848	NM_001257967.3(ITPRID1):c.3107G>T (p.Gly1036Val)	ITPRID1, PDE1C (G1036V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 403336	NM_006658.5(PPP1R17):c.29T>G (p.Leu10Arg)	PDE1C, PPP1R17 (L10R)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2548365	NM_006658.5(PPP1R17):c.50T>C (p.Leu17Pro)	PDE1C, PPP1R17 (L17P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222682	NM_006658.5(PPP1R17):c.63C>A (p.Asp21Glu)	PDE1C, PPP1R17 (D21E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411879	NM_006658.5(PPP1R17):c.186A>C (p.Lys62Asn)	PDE1C, PPP1R17 (K62N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335210	NM_006658.5(PPP1R17):c.233C>T (p.Pro78Leu)	PDE1C, PPP1R17 (P78L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268207	NM_006658.5(PPP1R17):c.303C>G (p.Ile101Met)	PDE1C, PPP1R17 (I101M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217538	NM_006658.5(PPP1R17):c.401T>C (p.Leu134Pro)	PDE1C, PPP1R17 (L83P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217539	NM_006658.5(PPP1R17):c.427G>A (p.Val143Met)	PDE1C, PPP1R17 (V92M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3030624	NM_001191057.4(PDE1C):c.2071G>A (p.Asp691Asn)	PDE1C (D691N +1 more)	Single nucleotide variant (missense variant)	PDE1C-related disorder	GLikely benign
Select item 3054164	NM_001191057.4(PDE1C):c.2001C>T (p.Tyr667=)	PDE1C	Single nucleotide variant (synonymous variant)	PDE1C-related disorder	GLikely benign
Select item 709900	NM_001191057.4(PDE1C):c.1979G>A (p.Arg660His)	PDE1C (R660H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1229535	NM_001191057.4(PDE1C):c.1961-123A>C	PDE1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 773211	NM_001191057.4(PDE1C):c.1953G>C (p.Thr651=)	PDE1C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2657378	NM_001191057.4(PDE1C):c.1941G>A (p.Thr647=)	PDE1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3038497	NM_001191057.4(PDE1C):c.1912G>A (p.Gly638Ser)	PDE1C (G638S +1 more)	Single nucleotide variant (missense variant)	PDE1C-related disorder	GBenign
Select item 789008	NM_001191057.4(PDE1C):c.1904G>A (p.Arg635His)	PDE1C (R635H +1 more)	Single nucleotide variant (missense variant)	PDE1C-related disorder +1 more	GBenign/Likely benign
Select item 1273656	NM_001191057.4(PDE1C):c.1892-14749T>C	PDE1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3210657	NM_001191057.4(PDE1C):c.1888G>T (p.Asp630Tyr)	PDE1C (D630Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273941	NM_001191057.4(PDE1C):c.1886C>T (p.Thr629Ile)	PDE1C (T629I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 740251	NM_001191057.4(PDE1C):c.1866C>T (p.Ile622=)	PDE1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2221140	NM_001191057.4(PDE1C):c.1855C>T (p.His619Tyr)	PDE1C (H679Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513733	NM_001191057.4(PDE1C):c.1843G>A (p.Asp615Asn)	PDE1C (D750N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2630468	NM_001191057.4(PDE1C):c.1835A>G (p.Asn612Ser)	PDE1C (N612S +2 more)	Single nucleotide variant (missense variant)	PDE1C-related disorder	GUncertain significance
Select item 1241492	NM_001191057.4(PDE1C):c.1830T>C (p.Gly610=)	PDE1C	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1273421	NM_001191057.4(PDE1C):c.1814-41A>G	PDE1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 148907	GRCh38/hg38 7p14.3(chr7:31815182-32377413)x3	LOC123956128, LOC126859984 +3 more	Copy number gain	See cases	GUncertain significance
Select item 1286911	NM_001191057.4(PDE1C):c.1813+143T>C	PDE1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222336	NM_001191057.4(PDE1C):c.1813+118T>C	PDE1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234874	NM_001191057.4(PDE1C):c.1782C>T (p.Ala594=)	PDE1C	Single nucleotide variant (synonymous variant)	Hearing loss, autosomal dominant 74 +1 more	GBenign
Select item 2657379	NM_001191057.4(PDE1C):c.1774T>G (p.Ser592Ala)	PDE1C (S592A +2 more)	Single nucleotide variant (missense variant)	PDE1C-related disorder +1 more	GBenign/Likely benign
Select item 1233118	NM_001191057.4(PDE1C):c.1773C>T (p.Asn591=)	PDE1C	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2633422	NM_001191057.4(PDE1C):c.1759C>A (p.Pro587Thr)	PDE1C (P587T +2 more)	Single nucleotide variant (missense variant)	PDE1C-related disorder	GUncertain significance
Select item 2324051	NM_001191057.4(PDE1C):c.1739G>A (p.Arg580Gln)	PDE1C (R715Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271231	NM_001191057.4(PDE1C):c.1738C>T (p.Arg580Trp)	PDE1C (R715W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773889	NM_001191057.4(PDE1C):c.1726G>C (p.Val576Leu)	PDE1C (V711L +2 more)	Single nucleotide variant (missense variant)	PDE1C-related disorder +1 more	GBenign/Likely benign
Select item 2657380	NM_001191057.4(PDE1C):c.1677C>T (p.Gly559=)	PDE1C	Single nucleotide variant (synonymous variant)	PDE1C-related disorder +1 more	GBenign/Likely benign
Select item 3210656	NM_001191057.4(PDE1C):c.1661G>A (p.Ser554Asn)	PDE1C (S614N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403533	NM_001191057.4(PDE1C):c.1654G>A (p.Ala552Thr)	PDE1C (A687T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2632026	NM_001191057.4(PDE1C):c.1615G>T (p.Ala539Ser)	PDE1C (A539S +2 more)	Single nucleotide variant (missense variant)	PDE1C-related disorder	GUncertain significance
Select item 1174244	NM_001191057.4(PDE1C):c.1583-203_1583-200del	PDE1C	Deletion (intron variant)	not provided	GBenign
Select item 1245814	NM_001191057.4(PDE1C):c.1582+113C>T	PDE1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3210655	NM_001191057.4(PDE1C):c.1570A>G (p.Lys524Glu)	PDE1C (K524E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711654	NM_001191057.4(PDE1C):c.1513A>G (p.Ser505Gly)	PDE1C (S505G +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3056498	NM_001191057.4(PDE1C):c.1495A>G (p.Ile499Val)	PDE1C (I499V +2 more)	Single nucleotide variant (missense variant)	PDE1C-related disorder	GLikely benign
Select item 3210654	NM_001191057.4(PDE1C):c.1459G>A (p.Gly487Ser)	PDE1C (G487S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1222611	NM_001191057.4(PDE1C):c.1407-39A>G	PDE1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220805	NM_001191057.4(PDE1C):c.1407-161C>T	PDE1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3038635	NM_001191057.4(PDE1C):c.1285+4C>T	PDE1C	Single nucleotide variant (intron variant)	PDE1C-related disorder	GLikely benign
Select item 1246228	NM_001191057.4(PDE1C):c.1204-77C>T	PDE1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270132	NM_001191057.4(PDE1C):c.1203+234del	PDE1C	Deletion (intron variant)	not provided	GBenign
Select item 1238164	NM_001191057.4(PDE1C):c.1203+232A>G	PDE1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294902	NM_001191057.4(PDE1C):c.1203+28A>G	PDE1C	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1050404	NM_001191057.4(PDE1C):c.1166G>A (p.Arg389His)	PDE1C (R389H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2260679	NM_001191057.4(PDE1C):c.1106C>G (p.Ser369Cys)	PDE1C (S429C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1286708	NM_001191057.4(PDE1C):c.1082+223C>T	PDE1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1518318	NM_001191057.4(PDE1C):c.1076C>T (p.Pro359Leu)	PDE1C (P359L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2664004	NM_001191057.4(PDE1C):c.1071G>T (p.Gln357His)	PDE1C (Q357H +2 more)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 74	GUncertain significance
Select item 3210653	NM_001191057.4(PDE1C):c.882A>C (p.Arg294Ser)	PDE1C (R354S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1275066	NM_001191057.4(PDE1C):c.851+151C>T	PDE1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227789	NM_001191057.4(PDE1C):c.851+149A>G	PDE1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 433528	NM_001191057.4(PDE1C):c.778G>T (p.Ala260Ser)	PDE1C (A320S +2 more)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 74 +1 more	GPathogenic/Likely pathogenic
Select item 2327044	NM_001191057.4(PDE1C):c.771G>C (p.Glu257Asp)	PDE1C (E392D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1265244	NM_001191057.4(PDE1C):c.750+213C>T	PDE1C	Single nucleotide variant (intron variant)	not provided	GBenign

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