21747[HGNC] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 58395	GRCh38/hg38 5q35.1-35.2(chr5:172776798-174342969)x1	ATP6V0E1, BNIP1 +91 more	Copy number loss	See cases	GPathogenic
Select item 58396	GRCh38/hg38 5q35.1-35.2(chr5:172961091-175054665)x1	ATP6V0E1, BNIP1 +81 more	Copy number loss	See cases	GPathogenic
Select item 154580	GRCh38/hg38 5q35.1-35.2(chr5:173237772-176614618)x3	ARL10, BOD1 +131 more	Copy number gain	See cases	GPathogenic
Select item 2556593	NM_030627.4(CPEB4):c.13G>A (p.Gly5Arg)	CPEB4 (G5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612459	NM_030627.4(CPEB4):c.116C>A (p.Pro39His)	CPEB4 (P39H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485905	NM_030627.4(CPEB4):c.373G>C (p.Glu125Gln)	CPEB4 (E125Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350771	NM_030627.4(CPEB4):c.401G>A (p.Arg134Lys)	CPEB4 (R134K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269172	NM_030627.4(CPEB4):c.468A>T (p.Gln156His)	CPEB4 (Q156H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410230	NM_030627.4(CPEB4):c.470C>A (p.Pro157His)	CPEB4 (P157H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269173	NM_030627.4(CPEB4):c.555A>T (p.Glu185Asp)	CPEB4 (E185D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076653	NM_030627.4(CPEB4):c.584T>C (p.Val195Ala)	CPEB4 (V195A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269174	NM_030627.4(CPEB4):c.589G>C (p.Ala197Pro)	CPEB4 (A197P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076654	NM_030627.4(CPEB4):c.644G>A (p.Ser215Asn)	CPEB4 (S215N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347907	NM_030627.4(CPEB4):c.821T>G (p.Leu274Trp)	CPEB4 (L274W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076655	NM_030627.4(CPEB4):c.917A>G (p.Tyr306Cys)	CPEB4, LOC123575623 (Y306C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076652	NM_030627.4(CPEB4):c.1022A>G (p.Asn341Ser)	CPEB4, LOC123575623 (N341S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362151	NM_030627.4(CPEB4):c.1045G>T (p.Ala349Ser)	CPEB4, LOC123575623 (A349S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619487	NM_030627.4(CPEB4):c.1124C>T (p.Pro375Leu)	CPEB4, LOC123575623 (P375L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479861	NM_030627.4(CPEB4):c.1287G>T (p.Gln429His)	CPEB4 (Q39H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336090	NM_030627.4(CPEB4):c.1330C>T (p.Arg444Cys)	CPEB4 (R419C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526311	NM_030627.4(CPEB4):c.1375T>G (p.Phe459Val)	CPEB4 (F434V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312882	NM_030627.4(CPEB4):c.1478G>A (p.Arg493His)	CPEB4 (R103H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 146333	GRCh38/hg38 5q35.2(chr5:173949773-174900395)x1	C5orf47, CPEB4 +16 more	Copy number loss	See cases	GPathogenic
Select item 2672217	NM_030627.4(CPEB4):c.2021G>A (p.Arg674His)	CPEB4 (R267H +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685184	GRCh37/hg19 5q35.1-35.2(chr5:171836503-176517734)x1	ARL10, ATP6V0E1 +37 more	Copy number loss	not provided	GPathogenic
Select item 1711097	GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3	ADAMTS2, ARL10 +117 more	Copy number gain	See cases	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 981214	GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3	ADAMTS2, ARL10 +115 more	Copy number gain	5q35 microduplication syndrome	GPathogenic
Select item 692223	GRCh37/hg19 5q34-35.2(chr5:166421173-173324843)x1	SPDL1, TENM2 +37 more	Copy number loss	Atrial septal defect 7	GPathogenic
Select item 442855	GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3	ADAMTS2, ARL10 +106 more	Copy number gain	See cases	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 221449	GRCh37/hg19 5q35.2(chr5:173043321-174953690)x3	CPEB4, DRD1 +4 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 40