ClinVar for Gene (Select 55040) - ClinVar

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Links from Gene

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3276049	NM_017957.3(EPN3):c.548C>T (p.Pro183Leu)	EPN3 (P183L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276048	NM_017957.3(EPN3):c.1622C>A (p.Ala541Glu)	EPN3, LOC130061172 (A541E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276047	NM_017957.3(EPN3):c.94C>T (p.Pro32Ser)	EPN3 (P32S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276046	NM_017957.3(EPN3):c.1894C>A (p.Leu632Ile)	EPN3, LOC130061172 (L632I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276045	NM_017957.3(EPN3):c.538C>G (p.Arg180Gly)	EPN3 (R180G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276044	NM_017957.3(EPN3):c.1627G>A (p.Glu543Lys)	EPN3, LOC130061172 (E543K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242218	Single allele	KIF18B, LPO +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3089785	NM_017957.3(EPN3):c.870G>T (p.Glu290Asp)	EPN3 (E290D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089784	NM_017957.3(EPN3):c.74G>A (p.Arg25His)	EPN3 (R25H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089783	NM_017957.3(EPN3):c.5C>A (p.Thr2Lys)	EPN3 (T2K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089782	NM_017957.3(EPN3):c.517G>A (p.Gly173Ser)	EPN3 (G173S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089781	NM_017957.3(EPN3):c.40G>A (p.Val14Met)	EPN3 (V14M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089780	NM_017957.3(EPN3):c.33G>T (p.Lys11Asn)	EPN3 (K11N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089779	NM_017957.3(EPN3):c.268G>A (p.Glu90Lys)	EPN3 (E90K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089778	NM_017957.3(EPN3):c.20G>A (p.Arg7Gln)	EPN3 (R7Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089777	NM_017957.3(EPN3):c.19C>T (p.Arg7Trp)	EPN3 (R7W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089776	NM_017957.3(EPN3):c.185G>A (p.Arg62Gln)	EPN3 (R62Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089775	NM_017957.3(EPN3):c.1850C>T (p.Ala617Val)	EPN3, LOC130061172 (A617V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089774	NM_017957.3(EPN3):c.1816G>C (p.Ala606Pro)	EPN3, LOC130061172 (A606P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089772	NM_017957.3(EPN3):c.171G>A (p.Met57Ile)	EPN3 (M57I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089771	NM_017957.3(EPN3):c.1430G>A (p.Gly477Asp)	EPN3 (G477D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3089770	NM_017957.3(EPN3):c.1312C>A (p.Leu438Met)	EPN3 (L438M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089769	NM_017957.3(EPN3):c.1125G>T (p.Arg375Ser)	EPN3 (R375S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2692407	Single allele	ABI3, CACNA1G +45 more	Deletion	Tricho-dento-osseous syndrome +1 more	GPathogenic
Select item 2617361	NM_017957.3(EPN3):c.691C>A (p.Pro231Thr)	EPN3 (P231T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593991	NM_017957.3(EPN3):c.1769T>G (p.Leu590Trp)	EPN3, LOC130061172 (L590W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550811	NM_017957.3(EPN3):c.1247C>T (p.Pro416Leu)	EPN3 (P416L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543917	NM_017957.3(EPN3):c.1226C>G (p.Ser409Cys)	EPN3 (S409C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529627	NM_017957.3(EPN3):c.52T>C (p.Ser18Pro)	EPN3 (S18P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516410	NM_017957.3(EPN3):c.73C>T (p.Arg25Cys)	EPN3 (R25C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510185	NM_017957.3(EPN3):c.301T>C (p.Tyr101His)	EPN3 (Y101H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509269	NM_017957.3(EPN3):c.1000G>T (p.Ala334Ser)	EPN3 (A334S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495948	NM_017957.3(EPN3):c.23G>A (p.Arg8His)	EPN3 (R8H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492188	NM_017957.3(EPN3):c.77A>G (p.Glu26Gly)	EPN3 (E26G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468648	NM_017957.3(EPN3):c.1461C>G (p.Ser487Arg)	EPN3 (S487R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465565	NM_017957.3(EPN3):c.828T>G (p.His276Gln)	EPN3 (H276Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465163	NM_017957.3(EPN3):c.803A>G (p.Asn268Ser)	EPN3 (N268S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463219	NM_017957.3(EPN3):c.833G>A (p.Arg278Gln)	EPN3 (R278Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2459839	NM_017957.3(EPN3):c.415C>T (p.Arg139Trp)	EPN3 (R139W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405837	NM_017957.3(EPN3):c.1264T>C (p.Phe422Leu)	EPN3 (F422L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391521	NM_017957.3(EPN3):c.339C>A (p.Asp113Glu)	EPN3 (D113E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390458	NM_017957.3(EPN3):c.244G>C (p.Asp82His)	EPN3 (D82H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372682	NM_017957.3(EPN3):c.1808G>A (p.Gly603Glu)	EPN3, LOC130061172 (G603E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368063	NM_017957.3(EPN3):c.508C>T (p.Arg170Cys)	EPN3 (R170C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365326	NM_017957.3(EPN3):c.272G>A (p.Arg91Gln)	EPN3 (R91Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363019	NM_017957.3(EPN3):c.1573C>G (p.Pro525Ala)	EPN3 (P525A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361648	NM_017957.3(EPN3):c.1439G>C (p.Gly480Ala)	EPN3 (G480A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358941	NM_017957.3(EPN3):c.50A>G (p.Tyr17Cys)	EPN3 (Y17C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354296	NM_017957.3(EPN3):c.1475C>T (p.Ala492Val)	EPN3 (A492V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342692	NM_017957.3(EPN3):c.340C>T (p.Arg114Cys)	EPN3 (R114C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298753	NM_017957.3(EPN3):c.598G>A (p.Glu200Lys)	EPN3, LOC105371824 (E200K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2291237	NM_017957.3(EPN3):c.466C>G (p.Leu156Val)	EPN3 (L156V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279552	NM_017957.3(EPN3):c.421C>T (p.Arg141Trp)	EPN3 (R141W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274256	NM_017957.3(EPN3):c.617C>T (p.Thr206Met)	EPN3, LOC105371824 (T206M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2272251	NM_017957.3(EPN3):c.820G>A (p.Val274Ile)	EPN3 (V274I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260229	NM_017957.3(EPN3):c.994A>C (p.Thr332Pro)	EPN3 (T332P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253088	NM_017957.3(EPN3):c.1651C>G (p.Gln551Glu)	EPN3, LOC130061172 (Q551E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249743	NM_017957.3(EPN3):c.1802A>C (p.Gln601Pro)	EPN3, LOC130061172 (Q601P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213812	NM_017957.3(EPN3):c.1463A>T (p.Lys488Ile)	EPN3 (K488I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213811	NM_017957.3(EPN3):c.1154C>T (p.Thr385Ile)	EPN3 (T385I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715786	NM_017957.3(EPN3):c.1557del (p.Ala520fs)	EPN3 (A520fs)	Deletion (frameshift variant)	not provided	GBenign
Select item 444852	GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1	HOXB3, HOXB4 +67 more	Copy number loss	not provided	GLikely pathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 59590	GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1	ABCC3, ACSF2 +196 more	Copy number loss	See cases	GPathogenic
Select item 59589	GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1	ABCC3, ABI3 +203 more	Copy number loss	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 70