ERC2[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60057	GRCh38/hg38 3p21.1-14.3(chr3:53287477-57025368)x1	ACTR8, ARHGEF3 +53 more	Copy number loss	See cases	GUncertain significance
Select item 57386	GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1	ABHD6, ACOX2 +218 more	Copy number loss	See cases	GPathogenic
Select item 2401809	NM_015576.3(ERC2):c.2840C>T (p.Pro947Leu)	ERC2 (P947L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276212	NM_015576.3(ERC2):c.2675G>A (p.Arg892Gln)	ERC2 (R892Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276214	NM_015576.3(ERC2):c.2562G>A (p.Met854Ile)	ERC2 (M854I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330636	NM_015576.3(ERC2):c.2525T>C (p.Ile842Thr)	ERC2 (I842T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259805	NM_015576.3(ERC2):c.2525T>G (p.Ile842Ser)	ERC2 (I842S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276216	NM_015576.3(ERC2):c.2447T>A (p.Leu816Gln)	ERC2 (L816Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217730	NM_015576.3(ERC2):c.2405T>C (p.Ile802Thr)	ERC2 (I802T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211390	NM_015576.3(ERC2):c.2396A>C (p.His799Pro)	ERC2 (H799P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090096	NM_015576.3(ERC2):c.2245G>A (p.Glu749Lys)	ERC2 (E749K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301609	NM_015576.3(ERC2):c.2152G>A (p.Glu718Lys)	ERC2 (E718K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276215	NM_015576.3(ERC2):c.2151C>G (p.Asp717Glu)	ERC2 (D717E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468843	NM_015576.3(ERC2):c.2125G>A (p.Asp709Asn)	ERC2 (D709N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347832	NM_015576.3(ERC2):c.2122C>T (p.Leu708Phe)	ERC2 (L708F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483559	NM_015576.3(ERC2):c.2089A>G (p.Met697Val)	ERC2 (M697V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319109	NM_015576.3(ERC2):c.2028G>T (p.Glu676Asp)	ERC2 (E676D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090095	NM_015576.3(ERC2):c.1861G>C (p.Glu621Gln)	ERC2 (E621Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301402	NM_015576.3(ERC2):c.1849T>A (p.Ser617Thr)	ERC2 (S617T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276213	NM_015576.3(ERC2):c.1832G>A (p.Arg611Lys)	ERC2 (R611K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090094	NM_015576.3(ERC2):c.1826G>A (p.Arg609Gln)	ERC2 (R609Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327542	NM_015576.3(ERC2):c.1796G>A (p.Arg599His)	ERC2 (R599H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471679	NM_015576.3(ERC2):c.1721C>T (p.Thr574Met)	ERC2 (T574M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605209	NM_015576.3(ERC2):c.1588A>G (p.Met530Val)	ERC2 (M530V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090093	NM_015576.3(ERC2):c.1326A>C (p.Glu442Asp)	ERC2 (E442D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274500	NM_015576.3(ERC2):c.1322A>G (p.Gln441Arg)	ERC2 (Q441R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2653906	NM_015576.3(ERC2):c.1245C>T (p.Arg415=)	ERC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2284924	NM_015576.3(ERC2):c.1066C>A (p.Leu356Ile)	ERC2 (L356I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090099	NM_015576.3(ERC2):c.995T>G (p.Met332Arg)	ERC2 (M332R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090098	NM_015576.3(ERC2):c.986C>T (p.Thr329Met)	ERC2 (T329M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322789	NM_015576.3(ERC2):c.854A>T (p.Glu285Val)	ERC2 (E285V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246427	NM_015576.3(ERC2):c.752C>T (p.Ala251Val)	ERC2 (A251V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485222	NM_015576.3(ERC2):c.407C>T (p.Pro136Leu)	ERC2 (P136L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299932	NM_015576.3(ERC2):c.394C>A (p.His132Asn)	ERC2 (H132N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523580	NM_015576.3(ERC2):c.313G>T (p.Ala105Ser)	ERC2 (A105S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619565	NM_015576.3(ERC2):c.296G>T (p.Gly99Val)	ERC2 (G99V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276211	NM_015576.3(ERC2):c.290C>T (p.Ala97Val)	ERC2 (A97V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274013	NM_015576.3(ERC2):c.263G>A (p.Arg88Gln)	ERC2 (R88Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370992	NM_015576.3(ERC2):c.59G>A (p.Arg20His)	ERC2 (R20H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
Select item 2685920	GRCh37/hg19 3p14.3(chr3:56317848-56658135)x3	CCDC66, ERC2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2685080	GRCh37/hg19 3p14.3(chr3:56258725-57386154)x1	APPL1, ARHGEF3 +8 more	Copy number loss	not provided	GUncertain significance
Select item 814447	GRCh37/hg19 3p14.3(chr3:56206624-56275029)x1	ERC2	Copy number loss	not provided	GUncertain significance
Select item 686187	GRCh37/hg19 3p14.3(chr3:56310834-56652900)x3	CCDC66, ERC2	Copy number gain	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 395489	GRCh37/hg19 3p14.3(chr3:55745130-55817929)x3	ERC2	Copy number gain	See cases	GBenign
Select item 253632	GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1	ABHD6, ACOX2 +66 more	Copy number loss	See cases	GPathogenic

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Items: 48