ClinVar for Gene (Select 2019) - ClinVar

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Links from Gene

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3275387	NM_001426.4(EN1):c.900G>C (p.Glu300Asp)	EN1 (E300D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275386	NM_001426.4(EN1):c.71C>T (p.Pro24Leu)	EN1 (P24L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088800	NM_001426.4(EN1):c.79C>G (p.Leu27Val)	EN1 (L27V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088799	NM_001426.4(EN1):c.701G>T (p.Ser234Ile)	EN1 (S234I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088798	NM_001426.4(EN1):c.679G>T (p.Gly227Cys)	EN1 (G227C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088797	NM_001426.4(EN1):c.599C>T (p.Ala200Val)	EN1 (A200V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088796	NM_001426.4(EN1):c.569C>T (p.Ala190Val)	EN1 (A190V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088795	NM_001426.4(EN1):c.512G>A (p.Cys171Tyr)	EN1 (C171Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088794	NM_001426.4(EN1):c.451G>T (p.Ala151Ser)	EN1 (A151S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088793	NM_001426.4(EN1):c.200C>G (p.Pro67Arg)	EN1 (P67R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088792	NM_001426.4(EN1):c.1093A>G (p.Lys365Glu)	EN1 (K365E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 3062627	GRCh37/hg19 2q14.1-14.3(chr2:116646793-126388760)x1	C1QL2, C2orf76 +22 more	Copy number loss	not specified	GLikely pathogenic
Select item 3050668	NM_001426.4(EN1):c.615_638del (p.Val209_Ala216del)	EN1	Deletion	EN1-related disorder	GLikely benign
Select item 3033463	NM_001426.4(EN1):c.166C>G (p.Pro56Ala)	EN1 (P56A)	Single nucleotide variant (missense variant)	EN1-related disorder	GLikely benign
Select item 3025567	NM_001426.4(EN1):c.183G>A (p.Ala61=)	EN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025150	NM_001426.4(EN1):c.618_647del (p.Val209_Ala218del)	EN1	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 2651295	NM_001426.4(EN1):c.226C>A (p.Pro76Thr)	EN1 (P76T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2651294	NM_001426.4(EN1):c.513C>T (p.Cys171=)	EN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2608478	NM_001426.4(EN1):c.449C>T (p.Ala150Val)	EN1 (A150V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603565	NM_001426.4(EN1):c.197C>T (p.Pro66Leu)	EN1 (P66L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597634	NM_001426.4(EN1):c.565G>C (p.Gly189Arg)	EN1 (G189R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590335	NM_001426.4(EN1):c.124G>T (p.Gly42Cys)	EN1 (G42C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561870	NM_001426.4(EN1):c.950G>A (p.Arg317Lys)	EN1 (R317K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553894	NM_001426.4(EN1):c.472C>A (p.Pro158Thr)	EN1 (P158T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357470	NM_001426.4(EN1):c.181G>A (p.Ala61Thr)	EN1 (A61T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353906	NM_001426.4(EN1):c.43G>C (p.Ala15Pro)	EN1 (A15P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342226	NM_001426.4(EN1):c.661T>A (p.Ser221Thr)	EN1 (S221T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340445	NM_001426.4(EN1):c.422G>A (p.Arg141Gln)	EN1 (R141Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323347	NM_001426.4(EN1):c.748A>G (p.Ile250Val)	EN1 (I250V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322431	NM_001426.4(EN1):c.454G>T (p.Gly152Cys)	EN1 (G152C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285367	NM_001426.4(EN1):c.1168G>A (p.Glu390Lys)	EN1 (E390K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259124	NM_001426.4(EN1):c.485G>C (p.Arg162Pro)	EN1 (R162P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254151	NM_001426.4(EN1):c.251A>G (p.Gln84Arg)	EN1 (Q84R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247907	NM_001426.4(EN1):c.914G>A (p.Arg305Gln)	EN1 (R305Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214631	NM_001426.4(EN1):c.259G>C (p.Ala87Pro)	EN1 (A87P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206110	NM_001426.4(EN1):c.244C>T (p.Pro82Ser)	EN1 (P82S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809385	GRCh37/hg19 2q14.1-14.3(chr2:116761476-123897262)x1	C1QL2, C2orf76 +21 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1526888	GRCh37/hg19 2q13-14.3(chr2:113188197-128144700)	ACTR3, BIN1 +51 more	Copy number loss	not specified	GPathogenic
Select item 1341292	GRCh37/hg19 2q14.2(chr2:118991485-120025223)x1	C1QL2, EN1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 989394	NM_001426.4(EN1):c.317dup (p.Ile107fs)	EN1 (I107fs)	Duplication (frameshift variant)	Endove syndrome, limb-brain type +1 more	GPathogenic
Select item 814298	GRCh37/hg19 2q14.2-14.3(chr2:118903294-123099547)x1	TMEM177, TFCP2L1 +18 more	Copy number loss	not provided	GPathogenic
Select item 814297	GRCh37/hg19 2q14.2-14.3(chr2:118872395-128069813)x1	BIN1, PTPN4 +24 more	Copy number loss	not provided	GPathogenic
Select item 814296	GRCh37/hg19 2q14.1-14.2(chr2:115416190-122399064)x1	TMEM177, C2orf76 +20 more	Copy number loss	not provided	GPathogenic
Select item 562675	GRCh37/hg19 2q14.1-14.3(chr2:114707932-124328692)x1	STEAP3, PTPN4 +23 more	Copy number loss	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442443	GRCh37/hg19 2q14.1-14.3(chr2:116754600-123897370)x1	C1QL2, C2orf76 +21 more	Copy number loss	See cases	GPathogenic
Select item 442204	GRCh37/hg19 2q13-14.3(chr2:114056441-123673800)x1	FOXD4L1, ACTR3 +27 more	Copy number loss	See cases	GPathogenic
Select item 402827	NM_001426.4(EN1):c.228A>C (p.Pro76=)	EN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 253388	GRCh37/hg19 2q12.3-14.3(chr2:109798247-125658380)x1	RGPD8, ACTR3 +63 more	Copy number loss	See cases	GPathogenic
Select item 155658	GRCh38/hg38 2q14.2-14.3(chr2:118687829-121621814)x1	C1QL2, C2orf76 +92 more	Copy number loss	See cases	GPathogenic
Select item 154450	GRCh38/hg38 2q14.2(chr2:118783531-118995100)x1	EN1, LINC01956 +7 more	Copy number loss	See cases	GUncertain significance
Select item 153085	GRCh38/hg38 2q14.1-14.3(chr2:115302067-129071130)x1	AMMECR1L, BIN1 +254 more	Copy number loss	See cases	GPathogenic
Select item 60184	GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1	ACMSD, AMER3 +391 more	Copy number loss	See cases	GPathogenic

ClinVar

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Germline classification

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Molecular consequence

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Links from Gene

Items: 60