ClinVar for Gene (Select 114625) - ClinVar

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Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3276389	NM_001017922.2(ERMAP):c.806T>C (p.Val269Ala)	ERMAP, ZNF691-DT (V269A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276388	NM_001017922.2(ERMAP):c.691A>G (p.Arg231Gly)	ERMAP (R231G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276387	NM_001017922.2(ERMAP):c.420C>G (p.Ile140Met)	ERMAP (I140M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276386	NM_001017922.2(ERMAP):c.50C>G (p.Pro17Arg)	ERMAP (P17R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276385	NM_001017922.2(ERMAP):c.701G>A (p.Arg234Gln)	ERMAP (R234Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276384	NM_001017922.2(ERMAP):c.700C>T (p.Arg234Trp)	ERMAP (R234W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276383	NM_001017922.2(ERMAP):c.346G>A (p.Val116Met)	ERMAP (V116M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247992	NC_000001.10:g.(?_42922237)_(43916151_?)del	C1orf210, C1orf50 +20 more	Deletion	not provided	GPathogenic
Select item 3247800	NC_000001.10:g.(?_42922237)_(43424429_?)dup	C1orf50, CCDC30 +9 more	Duplication	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 3247799	NC_000001.10:g.(?_43200757)_(43424429_?)del	C1orf50, CLDN19 +5 more	Deletion	GLUT1 deficiency syndrome 1, autosomal recessive	GPathogenic
Select item 3090288	NM_001017922.2(ERMAP):c.866C>T (p.Thr289Met)	ERMAP, ZNF691-DT (T289M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090287	NM_001017922.2(ERMAP):c.813C>A (p.Asp271Glu)	ERMAP, ZNF691-DT (D271E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090286	NM_001017922.2(ERMAP):c.50C>T (p.Pro17Leu)	ERMAP (P17L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090285	NM_001017922.2(ERMAP):c.332T>C (p.Leu111Pro)	ERMAP (L111P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090284	NM_001017922.2(ERMAP):c.230T>A (p.Val77Asp)	ERMAP (V77D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090283	NM_001017922.2(ERMAP):c.1045T>A (p.Phe349Ile)	ERMAP, ZNF691-DT (F349I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062343	GRCh38/hg38 1p34.2(chr1:42278946-43598390)	C1orf210, C1orf50 +91 more	Copy number loss	Epilepsy syndrome	GPathogenic
Select item 3060859	NM_001017922.2(ERMAP):c.76C>T (p.His26Tyr)	ERMAP (H26Y)	Single nucleotide variant (missense variant)	ERMAP-related disorder	GBenign
Select item 3060601	NM_001017922.2(ERMAP):c.-2G>A	ERMAP	Single nucleotide variant (5 prime UTR variant)	ERMAP-related disorder	GBenign
Select item 3058973	NM_001017922.2(ERMAP):c.54C>T (p.Leu18=)	ERMAP	Single nucleotide variant (synonymous variant)	ERMAP-related disorder	GBenign
Select item 3058643	NM_001017922.2(ERMAP):c.217C>T (p.Arg73Cys)	ERMAP (R73C)	Single nucleotide variant (missense variant)	ERMAP-related disorder	GBenign
Select item 3057388	NM_001017922.2(ERMAP):c.414C>T (p.Thr138=)	ERMAP	Single nucleotide variant (synonymous variant)	ERMAP-related disorder	GLikely benign
Select item 3043285	NM_001017922.2(ERMAP):c.789A>G (p.Gly263=)	ERMAP, ZNF691-DT	Single nucleotide variant (synonymous variant)	ERMAP-related disorder	GLikely benign
Select item 3035409	NM_001017922.2(ERMAP):c.1035G>A (p.Pro345=)	ERMAP, ZNF691-DT	Single nucleotide variant (synonymous variant +1 more)	ERMAP-related disorder	GLikely benign
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2610475	NM_001017922.2(ERMAP):c.26C>A (p.Ser9Tyr)	ERMAP (S9Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600056	NM_001017922.2(ERMAP):c.185A>C (p.Glu62Ala)	ERMAP (E62A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596282	NM_001017922.2(ERMAP):c.320G>A (p.Gly107Glu)	ERMAP (G107E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591536	NM_001017922.2(ERMAP):c.251A>C (p.Lys84Thr)	ERMAP (K84T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540244	NM_001017922.2(ERMAP):c.1340C>G (p.Pro447Arg)	ERMAP, ZNF691-DT (P447R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514385	NM_001017922.2(ERMAP):c.1378C>T (p.Pro460Ser)	ERMAP, ZNF691-DT (P460S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472194	NM_001017922.2(ERMAP):c.185A>T (p.Glu62Val)	ERMAP (E62V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382097	NM_001017922.2(ERMAP):c.1033C>T (p.Pro345Ser)	ERMAP, ZNF691-DT (P345S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370890	NM_001017922.2(ERMAP):c.55G>A (p.Val19Ile)	ERMAP (V19I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2287719	NM_001017922.2(ERMAP):c.1194C>G (p.Cys398Trp)	ERMAP, ZNF691-DT (C398W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281545	NM_001017922.2(ERMAP):c.1293T>A (p.His431Gln)	ERMAP, ZNF691-DT (H431Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245047	NM_001017922.2(ERMAP):c.224A>G (p.Gln75Arg)	ERMAP (Q75R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239931	NM_001017922.2(ERMAP):c.1105A>G (p.Ile369Val)	ERMAP, ZNF691-DT (I369V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 785937	NM_001017922.2(ERMAP):c.219C>T (p.Arg73=)	ERMAP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775539	NM_001017922.2(ERMAP):c.11C>T (p.Ala4Val)	ERMAP (A4V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395212	GRCh37/hg19 1p34.2-34.1(chr1:42914303-45001279)x1	ARTN, ATP6V0B +36 more	Copy number loss	See cases	GPathogenic
Select item 154142	GRCh38/hg38 1p34.2(chr1:40834404-43123071)x1	C1orf50, CCDC30 +142 more	Copy number loss	See cases	GPathogenic
Select item 152832	GRCh38/hg38 1p34.2(chr1:42653385-43093829)x1	C1orf50, CCDC30 +43 more	Copy number loss	See cases	GLikely pathogenic
Select item 59966	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	ARTN, ATP6V0B +279 more	Copy number loss	See cases	GPathogenic
Select item 57093	GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1	ARTN, ATP6V0B +253 more	Copy number loss	See cases	GPathogenic
Select item 1918	NM_001017922.1(ERMAP):c.139G>A (p.Glu47Lys)	ERMAP (E47K)	Single nucleotide variant (missense variant)	Antigen in Scianna blood group system	GAffects
Select item 1917	NM_001017922.2(ERMAP):c.178C>G (p.Pro60Ala)	ERMAP (P60A)	Single nucleotide variant (missense variant)	Radin blood group	GAffects
Select item 1916	NM_001017922.2(ERMAP):c.169G>A (p.Gly57Arg)	ERMAP (G57R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1915	NM_001017922.2(ERMAP):c.307_308del (p.Asp103fs)	ERMAP (D103fs)	Microsatellite (frameshift variant)	SCIANNA BLOOD GROUP SYSTEM, SC:-1,-2	GPathogenic

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Links from Gene

Items: 54