ClinVar for Gene (Select 2081) - ClinVar

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Links from Gene

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3276407	NM_001433.5(ERN1):c.977T>C (p.Ile326Thr)	ERN1, LOC130061417 (I326T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276406	NM_001433.5(ERN1):c.791C>T (p.Thr264Ile)	ERN1 (T264I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276405	NM_001433.5(ERN1):c.970G>A (p.Val324Ile)	ERN1, LOC130061417 (V324I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148898	GRCh37/hg19 17q23.2-23.3(chr17:58596397-62540700)x3	ACE, APPBP2 +43 more	Copy number gain	See cases	GUncertain significance
Select item 3090333	NM_001433.5(ERN1):c.82C>T (p.Leu28Phe)	ERN1 (L28F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090332	NM_001433.5(ERN1):c.2912C>A (p.Pro971Gln)	ERN1 (P971Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090331	NM_001433.5(ERN1):c.2746G>A (p.Ala916Thr)	ERN1 (A916T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090330	NM_001433.5(ERN1):c.2738A>G (p.Glu913Gly)	ERN1 (E913G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090329	NM_001433.5(ERN1):c.2623C>T (p.Arg875Trp)	ERN1 (R875W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090328	NM_001433.5(ERN1):c.2567G>A (p.Gly856Asp)	ERN1 (G856D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090327	NM_001433.5(ERN1):c.2502C>G (p.Ser834Arg)	ERN1 (S834R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090326	NM_001433.5(ERN1):c.1957G>A (p.Val653Met)	ERN1 (V653M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090325	NM_001433.5(ERN1):c.1753A>G (p.Ile585Val)	ERN1 (I585V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090324	NM_001433.5(ERN1):c.1652C>T (p.Ser551Phe)	ERN1 (S551F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3090321	NM_001433.5(ERN1):c.1309G>A (p.Val437Met)	ERN1 (V437M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090320	NM_001433.5(ERN1):c.1294C>T (p.Arg432Trp)	ERN1 (R432W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090319	NM_001433.5(ERN1):c.1259G>A (p.Arg420Gln)	ERN1 (R420Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3090317	NM_001433.5(ERN1):c.1022A>G (p.Lys341Arg)	ERN1 (K341R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090316	NM_001433.5(ERN1):c.1004C>T (p.Thr335Met)	ERN1 (T335M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603674	NM_001433.5(ERN1):c.76G>A (p.Val26Met)	ERN1 (V26M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598578	NM_001433.5(ERN1):c.2251C>G (p.Pro751Ala)	ERN1 (P751A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568852	NM_001433.5(ERN1):c.306A>T (p.Glu102Asp)	ERN1, LOC125312419 (E102D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532776	NM_001433.5(ERN1):c.1015G>A (p.Asp339Asn)	ERN1 (D339N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522329	NM_001433.5(ERN1):c.1511C>T (p.Thr504Met)	ERN1 (T504M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512436	NM_001433.5(ERN1):c.1120A>C (p.Lys374Gln)	ERN1 (K374Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512378	NM_001433.5(ERN1):c.724C>T (p.His242Tyr)	ERN1 (H242Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490854	NM_001433.5(ERN1):c.2755C>T (p.Arg919Trp)	ERN1 (R919W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469301	NM_001433.5(ERN1):c.817G>A (p.Glu273Lys)	ERN1 (E273K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465499	NM_001433.5(ERN1):c.2299G>A (p.Val767Ile)	ERN1 (V767I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463548	NM_001433.5(ERN1):c.1033G>A (p.Gly345Arg)	ERN1 (G345R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410180	NM_001433.5(ERN1):c.2788G>A (p.Val930Met)	ERN1 (V930M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384849	NM_001433.5(ERN1):c.1687G>C (p.Val563Leu)	ERN1 (V563L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361560	NM_001433.5(ERN1):c.1670G>A (p.Gly557Glu)	ERN1 (G557E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2357230	NM_001433.5(ERN1):c.1000A>C (p.Ile334Leu)	ERN1 (I334L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353750	NM_001433.5(ERN1):c.512G>A (p.Arg171Gln)	ERN1 (R171Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352840	NM_001433.5(ERN1):c.928G>A (p.Gly310Ser)	ERN1 (G310S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346942	NM_001433.5(ERN1):c.1279G>A (p.Ala427Thr)	ERN1 (A427T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335695	NM_001433.5(ERN1):c.2710A>G (p.Met904Val)	ERN1 (M904V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335694	NM_001433.5(ERN1):c.201T>A (p.His67Gln)	ERN1 (H67Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330138	NM_001433.5(ERN1):c.2287G>A (p.Val763Ile)	ERN1 (V763I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326328	NM_001433.5(ERN1):c.2476G>A (p.Val826Met)	ERN1 (V826M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315454	NM_001433.5(ERN1):c.2779G>A (p.Asp927Asn)	ERN1 (D927N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297270	NM_001433.5(ERN1):c.2278G>T (p.Ala760Ser)	ERN1 (A760S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291758	NM_001433.5(ERN1):c.1216C>G (p.Leu406Val)	ERN1 (L406V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279599	NM_001433.5(ERN1):c.1336A>C (p.Thr446Pro)	ERN1 (T446P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269347	NM_001433.5(ERN1):c.2446G>T (p.Asp816Tyr)	ERN1 (D816Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253297	NM_001433.5(ERN1):c.1117A>G (p.Thr373Ala)	ERN1 (T373A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244862	NM_001433.5(ERN1):c.1604A>C (p.His535Pro)	ERN1 (H535P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242586	NM_001433.5(ERN1):c.1583C>T (p.Thr528Met)	ERN1 (T528M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235450	NM_001433.5(ERN1):c.1160G>A (p.Arg387Gln)	ERN1 (R387Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808405	GRCh37/hg19 17q23.3(chr17:61838634-62465444)x4	CCDC47, CD79B +16 more	Copy number gain	not provided	GUncertain significance
Select item 740269	NM_001433.5(ERN1):c.396C>T (p.Thr132=)	ERN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 735286	NM_001433.5(ERN1):c.1563G>A (p.Ser521=)	ERN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 711689	NM_001433.5(ERN1):c.1649C>G (p.Pro550Arg)	ERN1 (P550R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 711661	NM_001433.5(ERN1):c.2358C>T (p.Leu786=)	ERN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 685257	GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3	ABCA6, ABCA8 +79 more	Copy number gain	not provided	GPathogenic
Select item 625756	GRCh37/hg19 17q22-24.2(chr17:57357088-66306668)	ACE, AMZ2 +77 more	Copy number gain	not provided	GPathogenic
Select item 477396	NC_000017.10:g.(?_62018111)_(62987152_?)dup	DDX5, ERN1 +10 more	Duplication	Familial hyperkalemic periodic paralysis	GUncertain significance
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 402835	NM_001433.5(ERN1):c.283-19_283-18dup	ERN1	Duplication (intron variant)	not specified	GBenign
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 58702	GRCh37/hg19 17q23-24(chr17:59209629-64222315)x3	ACE, APOH +48 more	Copy number gain	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: 65