EID1[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146334	GRCh38/hg38 15q21.1-21.2(chr15:47460844-52494222)x1	AP4E1, ATP8B4 +190 more	Copy number loss	See cases	GPathogenic
Select item 2597962	NM_014335.3(EID1):c.11T>C (p.Met4Thr)	EID1, LOC130057026 +1 more (M4T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087827	NM_014335.3(EID1):c.37G>C (p.Glu13Gln)	EID1, LOC130057026 +1 more (E13Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087828	NM_014335.3(EID1):c.49C>G (p.Leu17Val)	EID1, LOC130057026 +1 more (L17V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341776	NM_014335.3(EID1):c.65T>C (p.Met22Thr)	EID1, LOC130057026 +1 more (M22T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315054	NM_014335.3(EID1):c.149A>C (p.Gln50Pro)	EID1, LOC130057026 +1 more (Q50P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2319205	NM_014335.3(EID1):c.152A>G (p.Gln51Arg)	EID1, LOC130057026 +1 more (Q51R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410834	NM_014335.3(EID1):c.170C>G (p.Pro57Arg)	EID1, LOC130057026 +1 more (P57R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382800	NM_014335.3(EID1):c.184G>A (p.Glu62Lys)	EID1, LOC130057026 +1 more (E62K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492922	NM_014335.3(EID1):c.194C>T (p.Pro65Leu)	EID1, LOC130057026 +1 more (P65L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087826	NM_014335.3(EID1):c.217C>T (p.Arg73Trp)	EID1, SHC4 (R73W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258549	NM_014335.3(EID1):c.240C>A (p.Asn80Lys)	EID1, SHC4 (N80K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087829	NM_014335.3(EID1):c.515A>G (p.Asn172Ser)	EID1, SHC4 (N172S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063396	GRCh37/hg19 15q21.1-21.2(chr15:49143050-50410530)x1	ATP8B4, COPS2 +7 more	Copy number loss	not specified	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +82 more	Copy number gain	not provided	GPathogenic
Select item 1526455	GRCh37/hg19 15q21.1-21.2(chr15:48940736-51309941)	AP4E1, ATP8B4 +16 more	Copy number loss	not specified	GUncertain significance
Select item 1526453	GRCh37/hg19 15q21.1-21.3(chr15:47635238-56509908)	CEP152, COPS2 +52 more	Copy number loss	not specified	GPathogenic
Select item 1526451	GRCh37/hg19 15q21.1-21.2(chr15:47574384-50369056)	EID1, FAM227B +15 more	Copy number loss	not specified	GPathogenic
Select item 1526447	GRCh37/hg19 15q15.2-21.2(chr15:42850434-49592633)	BLOC1S6, C15orf48 +61 more	Copy number loss	not specified	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ARPIN-AP3S2, COMMD4 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 988929	GRCh37/hg19 15q21.1-21.3(chr15:48744917-53851050)x1	AP4E1, ARPP19 +35 more	Copy number loss	not provided	GPathogenic
Select item 815712	GRCh37/hg19 15q21.1-21.2(chr15:49142668-49514861)x3	COPS2, SHC4 +3 more	Copy number gain	not provided	GUncertain significance
Select item 815710	GRCh37/hg19 15q21.1-21.2(chr15:47192561-50819726)x1	ATP8B4, CEP152 +20 more	Copy number loss	not provided	GPathogenic
Select item 688584	GRCh37/hg19 15q21.1-21.3(chr15:49031132-56740397)x3	AP4E1, ARPP19 +47 more	Copy number gain	not provided	GPathogenic
Select item 687840	GRCh37/hg19 15q21.1(chr15:49043112-49286126)x3	CEP152, EID1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 685183	GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3	ADAM10, ALDH1A2 +76 more	Copy number gain	not provided	GPathogenic
Select item 564197	GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)x1	AP4E1, ARPP19 +76 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AFG2B +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	TRPM7, TSPAN3 +444 more	Copy number gain	See cases	GPathogenic

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Items: 35