CPPED1[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 545184	Single allele	BCAR4, CPPED1 +85 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 148522	GRCh38/hg38 16p13.13-13.11(chr16:11952467-15186199)x1	BFAR, CPPED1 +113 more	Copy number loss	See cases	GLikely pathogenic
Select item 58701	GRCh38/hg38 16p13.13-13.11(chr16:11967831-15162888)x1	BFAR, CPPED1 +110 more	Copy number loss	See cases	GPathogenic
Select item 149026	GRCh38/hg38 16p13.12(chr16:12641872-13439605)x1	CPPED1, LOC112296188 +14 more	Copy number loss	See cases	GLikely benign
Select item 3076835	NM_018340.3(CPPED1):c.872G>A (p.Arg291Gln)	CPPED1 (R149Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269252	NM_018340.3(CPPED1):c.856G>A (p.Glu286Lys)	CPPED1 (E286K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400891	NM_018340.3(CPPED1):c.841G>A (p.Val281Met)	CPPED1 (V139M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076833	NM_018340.3(CPPED1):c.807C>G (p.Cys269Trp)	CPPED1 (C127W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076832	NM_018340.3(CPPED1):c.784G>T (p.Val262Leu)	CPPED1 (V262L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269255	NM_018340.3(CPPED1):c.763A>G (p.Thr255Ala)	CPPED1 (T255A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076831	NM_018340.3(CPPED1):c.757G>A (p.Gly253Arg)	CPPED1 (G111R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222093	NM_018340.3(CPPED1):c.730T>G (p.Phe244Val)	CPPED1 (F244V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248263	NM_018340.3(CPPED1):c.712G>A (p.Ala238Thr)	CPPED1 (A238T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558349	NM_018340.3(CPPED1):c.706A>T (p.Ile236Phe)	CPPED1 (I236F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076830	NM_018340.3(CPPED1):c.642C>A (p.Asp214Glu)	CPPED1 (D214E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210484	NM_018340.3(CPPED1):c.641A>T (p.Asp214Val)	CPPED1 (D214V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076829	NM_018340.3(CPPED1):c.637A>G (p.Ile213Val)	CPPED1 (I213V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253585	NM_018340.3(CPPED1):c.615C>A (p.His205Gln)	CPPED1 (H205Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076828	NM_018340.3(CPPED1):c.583C>T (p.Arg195Trp)	CPPED1 (R195W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359235	NM_018340.3(CPPED1):c.521G>A (p.Cys174Tyr)	CPPED1 (C174Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076827	NM_018340.3(CPPED1):c.511C>T (p.Pro171Ser)	CPPED1 (P171S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269253	NM_018340.3(CPPED1):c.415G>A (p.Val139Ile)	CPPED1 (V139I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3076826	NM_018340.3(CPPED1):c.410A>T (p.Glu137Val)	CPPED1 (E137V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076825	NM_018340.3(CPPED1):c.398C>A (p.Thr133Asn)	CPPED1 (T133N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076824	NM_018340.3(CPPED1):c.352G>T (p.Ala118Ser)	CPPED1 (A118S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076823	NM_018340.3(CPPED1):c.349A>G (p.Arg117Gly)	CPPED1 (R117G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600230	NM_018340.3(CPPED1):c.329G>A (p.Arg110Gln)	CPPED1 (R110Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613625	NM_018340.3(CPPED1):c.296C>T (p.Pro99Leu)	CPPED1 (P99L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269256	NM_018340.3(CPPED1):c.284T>C (p.Met95Thr)	CPPED1 (M95T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559579	NM_018340.3(CPPED1):c.227A>G (p.Asn76Ser)	CPPED1 (N76S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076822	NM_018340.3(CPPED1):c.215T>C (p.Val72Ala)	CPPED1 (V72A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392807	NM_018340.3(CPPED1):c.178G>A (p.Glu60Lys)	CPPED1 (E60K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235301	NM_018340.3(CPPED1):c.163G>A (p.Asp55Asn)	CPPED1 (D55N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310838	NM_018340.3(CPPED1):c.157G>C (p.Asp53His)	CPPED1 (D53H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368448	NM_018340.3(CPPED1):c.131G>A (p.Gly44Glu)	CPPED1 (G44E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076837	NM_018340.3(CPPED1):c.91G>A (p.Gly31Ser)	CPPED1 (G31S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076834	NM_018340.3(CPPED1):c.82G>A (p.Glu28Lys)	CPPED1 (E28K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589534	NM_018340.3(CPPED1):c.67G>T (p.Ala23Ser)	CPPED1, LOC130058534 (A23S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2206291	NM_018340.3(CPPED1):c.59C>G (p.Ala20Gly)	CPPED1, LOC130058534 (A20G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269254	NM_018340.3(CPPED1):c.53T>C (p.Leu18Pro)	CPPED1, LOC130058534 (L18P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622290	NM_018340.3(CPPED1):c.48G>C (p.Arg16Ser)	CPPED1, LOC130058534 (R16S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364956	NM_018340.3(CPPED1):c.25G>C (p.Val9Leu)	CPPED1, LOC130058534 (V9L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391701	NM_018340.3(CPPED1):c.8C>T (p.Ala3Val)	CPPED1, LOC130058534 (A3V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684788	GRCh37/hg19 16p13.13-13.12(chr16:12229416-12915390)x3	CPPED1, SNX29	Copy number gain	not provided	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1526502	GRCh37/hg19 16p13.13-13.12(chr16:11364838-13592668)	SNN, SNX29 +13 more	Copy number gain	not specified	GUncertain significance
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 564274	GRCh37/hg19 16p13.13-13.12(chr16:12007434-14781381)x1	BFAR, CPPED1 +10 more	Copy number loss	not provided	GUncertain significance
Select item 561979	GRCh37/hg19 16p13.13-13.12(chr16:12389767-13081111)x3	SHISA9, SNX29 +1 more	Copy number gain	not provided	GUncertain significance
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 441042	GRCh37/hg19 16p13.12(chr16:12706347-12893819)x1	CPPED1	Copy number loss	not provided	Gnot provided
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221511	GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3	AMDHD2, ANKS3 +202 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 64