ClinVar for Gene (Select 8532) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3077027	NM_001014447.3(CPZ):c.986C>T (p.Thr329Met)	CPZ (T192M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077026	NM_001014447.3(CPZ):c.97C>T (p.His33Tyr)	CPZ (H33Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3077025	NM_001014447.3(CPZ):c.956T>C (p.Leu319Pro)	CPZ (L308P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077024	NM_001014447.3(CPZ):c.887A>G (p.Tyr296Cys)	CPZ (Y285C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077023	NM_001014447.3(CPZ):c.878C>T (p.Pro293Leu)	CPZ (P282L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077022	NM_001014447.3(CPZ):c.851G>T (p.Arg284Leu)	CPZ (R284L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077021	NM_001014447.3(CPZ):c.832C>T (p.Arg278Cys)	CPZ (R141C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077020	NM_001014447.3(CPZ):c.814G>T (p.Gly272Cys)	CPZ (G261C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077018	NM_001014447.3(CPZ):c.764G>A (p.Arg255Gln)	CPZ (R118Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077017	NM_001014447.3(CPZ):c.68A>G (p.Glu23Gly)	CPZ (E23G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077016	NM_001014447.3(CPZ):c.618C>G (p.His206Gln)	CPZ (H69Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077015	NM_001014447.3(CPZ):c.584G>A (p.Arg195His)	CPZ (R58H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077014	NM_001014447.3(CPZ):c.514G>A (p.Glu172Lys)	CPZ (E172K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077013	NM_001014447.3(CPZ):c.427T>C (p.Phe143Leu)	CPZ (F6L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077012	NM_001014447.3(CPZ):c.379G>A (p.Glu127Lys)	CPZ (E116K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077011	NM_001014447.3(CPZ):c.349C>A (p.Pro117Thr)	CPZ (P117T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077010	NM_001014447.3(CPZ):c.344G>A (p.Arg115His)	CPZ (R104H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077008	NM_001014447.3(CPZ):c.206C>T (p.Ser69Leu)	CPZ (S58L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077007	NM_001014447.3(CPZ):c.1897T>C (p.Trp633Arg)	CPZ (W633R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077006	NM_001014447.3(CPZ):c.1858C>G (p.Arg620Gly)	CPZ (R483G +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3077005	NM_001014447.3(CPZ):c.1767G>T (p.Lys589Asn)	CPZ (K452N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077004	NM_001014447.3(CPZ):c.1760G>C (p.Gly587Ala)	CPZ (G576A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077003	NM_001014447.3(CPZ):c.1753G>C (p.Gly585Arg)	CPZ (G448R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077002	NM_001014447.3(CPZ):c.1663G>C (p.Ala555Pro)	CPZ (A418P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077001	NM_001014447.3(CPZ):c.1633C>G (p.Pro545Ala)	CPZ (P545A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077000	NM_001014447.3(CPZ):c.1565G>A (p.Arg522Gln)	CPZ (R385Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076999	NM_001014447.3(CPZ):c.1358C>T (p.Thr453Met)	CPZ (T316M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076998	NM_001014447.3(CPZ):c.1295G>A (p.Arg432Lys)	CPZ (R432K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076996	NM_001014447.3(CPZ):c.1278G>A (p.Met426Ile)	CPZ (M289I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076995	NM_001014447.3(CPZ):c.1214C>A (p.Thr405Lys)	CPZ (T268K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076994	NM_001014447.3(CPZ):c.1210C>G (p.Pro404Ala)	CPZ (P267A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076993	NM_001014447.3(CPZ):c.1182G>T (p.Lys394Asn)	CPZ (K257N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076992	NM_001014447.3(CPZ):c.1171G>C (p.Asp391His)	CPZ (D254H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076991	NM_001014447.3(CPZ):c.1165C>G (p.Pro389Ala)	CPZ (P252A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076990	NM_001014447.3(CPZ):c.1141G>C (p.Gly381Arg)	CPZ (G370R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076989	NM_001014447.3(CPZ):c.1117T>C (p.Phe373Leu)	CPZ (F362L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076988	NM_001014447.3(CPZ):c.1106A>G (p.Gln369Arg)	CPZ (Q232R +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3076987	NM_001014447.3(CPZ):c.1099T>C (p.Trp367Arg)	CPZ (W230R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3059944	NM_001014447.3(CPZ):c.1341G>A (p.Ala447=)	CPZ	Single nucleotide variant (synonymous variant)	CPZ-related condition	GBenign
Select item 3059828	NM_001014447.3(CPZ):c.612C>T (p.Cys204=)	CPZ	Single nucleotide variant (synonymous variant)	CPZ-related condition	GBenign
Select item 3059669	NM_001014447.3(CPZ):c.17C>T (p.Pro6Leu)	CPZ (P6L)	Single nucleotide variant (missense variant +1 more)	CPZ-related condition	GBenign
Select item 3058936	NM_001014447.3(CPZ):c.1260C>T (p.Asp420=)	CPZ	Single nucleotide variant (synonymous variant)	CPZ-related condition	GBenign
Select item 3056986	NM_001014447.3(CPZ):c.389A>T (p.Gln130Leu)	CPZ (Q119L +1 more)	Single nucleotide variant (missense variant +1 more)	CPZ-related condition	GBenign
Select item 3056417	NM_001014447.3(CPZ):c.12G>C (p.Pro4=)	CPZ	Single nucleotide variant (synonymous variant +1 more)	CPZ-related condition	GBenign
Select item 3056352	NM_001014447.3(CPZ):c.56G>C (p.Arg19Pro)	CPZ (R19P)	Single nucleotide variant (missense variant +1 more)	CPZ-related condition	GBenign
Select item 3055879	NM_001014447.3(CPZ):c.654C>T (p.Asp218=)	CPZ	Single nucleotide variant (synonymous variant)	CPZ-related condition	GBenign
Select item 3055739	NM_001014447.3(CPZ):c.1504-3C>T	CPZ	Single nucleotide variant (intron variant)	CPZ-related condition	GBenign
Select item 3055597	NM_001014447.3(CPZ):c.1363+6G>T	CPZ	Single nucleotide variant (intron variant)	CPZ-related condition	GBenign
Select item 3055306	NM_001014447.3(CPZ):c.1502C>T (p.Thr501Met)	CPZ (T364M +2 more)	Single nucleotide variant (missense variant)	CPZ-related condition	GBenign
Select item 3055246	NM_001014447.3(CPZ):c.*4C>T	CPZ	Single nucleotide variant (3 prime UTR variant)	CPZ-related condition	GBenign
Select item 3052227	NM_001014447.3(CPZ):c.497-5C>G	CPZ	Single nucleotide variant (intron variant)	CPZ-related condition	GLikely benign
Select item 3051487	NM_001014447.3(CPZ):c.613G>A (p.Ala205Thr)	CPZ (A194T +2 more)	Single nucleotide variant (missense variant)	CPZ-related condition	GUncertain significance
Select item 3049378	NM_001014447.3(CPZ):c.850C>T (p.Arg284Cys)	CPZ (R147C +2 more)	Single nucleotide variant (missense variant)	CPZ-related condition	GLikely benign
Select item 3045123	NM_001014447.3(CPZ):c.366C>T (p.Cys122=)	CPZ	Single nucleotide variant (synonymous variant +1 more)	CPZ-related condition	GLikely benign
Select item 3044860	NM_001014447.3(CPZ):c.231C>T (p.Ser77=)	CPZ	Single nucleotide variant (synonymous variant +1 more)	CPZ-related condition	GBenign
Select item 3043372	NM_001014447.3(CPZ):c.377G>A (p.Arg126Gln)	CPZ (R115Q +1 more)	Single nucleotide variant (missense variant +1 more)	CPZ-related condition	GBenign
Select item 3042600	NM_001014447.3(CPZ):c.1704C>T (p.Pro568=)	CPZ	Single nucleotide variant (synonymous variant)	CPZ-related condition	GBenign
Select item 3041702	NM_001014447.3(CPZ):c.1438C>G (p.Pro480Ala)	CPZ (P343A +2 more)	Single nucleotide variant (missense variant)	CPZ-related condition	GBenign
Select item 3039414	NM_001014447.3(CPZ):c.639C>T (p.Ile213=)	CPZ	Single nucleotide variant (synonymous variant)	CPZ-related condition	GBenign
Select item 3039390	NM_001014447.3(CPZ):c.1198A>G (p.Lys400Glu)	CPZ (K263E +2 more)	Single nucleotide variant (missense variant)	CPZ-related condition	GLikely benign
Select item 3039096	NM_001014447.3(CPZ):c.1236G>T (p.Lys412Asn)	CPZ (K275N +2 more)	Single nucleotide variant (missense variant)	CPZ-related condition	GBenign
Select item 3039015	NM_001014447.3(CPZ):c.1511G>A (p.Arg504Gln)	CPZ (R367Q +2 more)	Single nucleotide variant (missense variant)	CPZ-related condition	GBenign
Select item 3038742	NM_001014447.3(CPZ):c.1709G>A (p.Arg570Gln)	CPZ (R433Q +2 more)	Single nucleotide variant (missense variant)	CPZ-related condition	GLikely benign
Select item 3038299	NM_001014447.3(CPZ):c.1787G>A (p.Arg596Gln)	CPZ (R459Q +2 more)	Single nucleotide variant (missense variant)	CPZ-related condition	GBenign
Select item 3038252	NM_001014447.3(CPZ):c.1782G>A (p.Gly594=)	CPZ	Single nucleotide variant (synonymous variant)	CPZ-related condition	GBenign
Select item 3038015	NM_001014447.3(CPZ):c.654C>A (p.Asp218Glu)	CPZ (D207E +2 more)	Single nucleotide variant (missense variant)	CPZ-related condition	GBenign
Select item 3037844	NM_001014447.3(CPZ):c.1884C>T (p.Asp628=)	CPZ	Single nucleotide variant (synonymous variant)	CPZ-related condition	GBenign
Select item 3037364	NM_001014447.3(CPZ):c.-10C>T	CPZ	Single nucleotide variant (5 prime UTR variant)	CPZ-related condition	GLikely benign
Select item 3034544	NM_001014447.3(CPZ):c.*7C>G	CPZ	Single nucleotide variant (3 prime UTR variant)	CPZ-related condition	GLikely benign
Select item 3034277	NM_001014447.3(CPZ):c.1674C>T (p.Tyr558=)	CPZ	Single nucleotide variant (synonymous variant)	CPZ-related condition	GLikely benign
Select item 3034032	NM_001014447.3(CPZ):c.462C>T (p.Asp154=)	CPZ	Single nucleotide variant (synonymous variant)	CPZ-related condition	GBenign
Select item 3033884	NM_001014447.3(CPZ):c.1364-40_1364-6del	CPZ	Deletion (intron variant)	CPZ-related condition	GBenign
Select item 3033724	NM_001014447.3(CPZ):c.903C>G (p.Ala301=)	CPZ	Single nucleotide variant (synonymous variant)	CPZ-related condition	GBenign
Select item 3031403	NM_001014447.3(CPZ):c.1723G>C (p.Gly575Arg)	CPZ (G438R +2 more)	Single nucleotide variant (missense variant)	CPZ-related condition	GUncertain significance
Select item 3030295	NM_001014447.3(CPZ):c.1062G>A (p.Trp354Ter)	CPZ (W217* +2 more)	Single nucleotide variant (nonsense)	CPZ-related condition	GLikely benign
Select item 3025085	NM_001014447.3(CPZ):c.1287G>A (p.Ser429=)	CPZ	Single nucleotide variant (synonymous variant)	CPZ-related condition +1 more	GLikely benign
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	USP17L10, USP17L11 +117 more	Copy number loss	not provided	GPathogenic
Select item 2688865	NM_001014447.3(CPZ):c.906+1G>A	CPZ	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2688864	NM_001014447.3(CPZ):c.1674C>G (p.Tyr558Ter)	CPZ (Y421* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2685958	GRCh37/hg19 4p16.1(chr4:7810354-8620214)x3	ABLIM2, ACOX3 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2685106	GRCh37/hg19 4p16.1(chr4:8521116-8609785)x1	CPZ, GPR78	Copy number loss	not provided	GUncertain significance
Select item 2685104	GRCh37/hg19 4p16.1(chr4:8453874-8609785)x1	CPZ, GPR78 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2685103	GRCh37/hg19 4p16.1(chr4:8379061-8620214)x1	ACOX3, CPZ +2 more	Copy number loss	not provided	GUncertain significance
Select item 2654658	NM_001014447.3(CPZ):c.36C>T (p.Val12=)	CPZ	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2611270	NM_001014447.3(CPZ):c.412A>G (p.Met138Val)	CPZ (M138V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610991	NM_001014447.3(CPZ):c.1147G>C (p.Asp383His)	CPZ (D246H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601427	NM_001014447.3(CPZ):c.643C>T (p.Arg215Cys)	CPZ (R204C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593406	NM_001014447.3(CPZ):c.1843G>A (p.Glu615Lys)	CPZ (E604K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	POLN, ZNF518B +132 more	Copy number loss	not provided	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	ABLIM2, ACOX3 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
Select item 2542593	NM_001014447.3(CPZ):c.1277T>G (p.Met426Arg)	CPZ (M426R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542499	NM_001014447.3(CPZ):c.841A>T (p.Asn281Tyr)	CPZ (N281Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537986	NM_001014447.3(CPZ):c.1219G>A (p.Asp407Asn)	CPZ (D396N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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