"GeneDx"[submitter] AND "EMC1"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59918	GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1	EMC1-AS1, FAM43B +221 more	Copy number loss	See cases	GPathogenic
Select item 59922	GRCh38/hg38 1p36.13(chr1:19093306-20063342)x1	AKR7A2, AKR7A3 +57 more	Copy number loss	See cases	GPathogenic
Select item 817005	NM_015047.3(EMC1):c.2954_2955dup (p.Lys986Ter)	EMC1, EMC1-AS1 (K964* +4 more)	Duplication (nonsense)	not provided	GLikely pathogenic
Select item 2663605	NM_015047.3(EMC1):c.2933_2935dup (p.Ile978_Thr979insIle)	EMC1, EMC1-AS1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2504725	NM_015047.3(EMC1):c.2872_2877dup (p.Asp959_Tyr960insAspAsp)	EMC1, EMC1-AS1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2443546	NM_015047.3(EMC1):c.2861del (p.Asp954fs)	EMC1, EMC1-AS1 (D932fs +4 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3363846	NM_015047.3(EMC1):c.2722C>T (p.Arg908Ter)	EMC1, EMC1-AS1 (R886* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 598641	NM_015047.3(EMC1):c.2712dup (p.His905fs)	EMC1, EMC1-AS1 (H904fs +2 more)	Duplication (frameshift variant)	Cerebellar atrophy, visual impairment, and psychomotor retardation; +1 more	GConflicting classifications of pathogenicity
Select item 960867	NM_015047.3(EMC1):c.2645G>A (p.Arg882His)	EMC1, EMC1-AS1 (R860H +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307503	NM_015047.3(EMC1):c.2621C>A (p.Pro874His)	EMC1, EMC1-AS1 (P877H +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1400926	NM_015047.3(EMC1):c.2575C>T (p.Arg859Ter)	EMC1, EMC1-AS1 (R859* +4 more)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 1933483	NM_015047.3(EMC1):c.2561G>A (p.Arg854Gln)	EMC1, EMC1-AS1 (R857Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1380039	NM_015047.3(EMC1):c.2540T>C (p.Met847Thr)	EMC1, EMC1-AS1 (M825T +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1036283	NM_015047.3(EMC1):c.2455G>A (p.Ala819Thr)	EMC1, EMC1-AS1 (A818T +4 more)	Single nucleotide variant (missense variant)	Cerebellar atrophy, visual impairment, and psychomotor retardation; +1 more	GUncertain significance
Select item 1166901	NM_015047.3(EMC1):c.2377-15C>G	EMC1, EMC1-AS1	Single nucleotide variant (intron variant)	Cerebellar atrophy, visual impairment, and psychomotor retardation; +1 more	GBenign
Select item 1493605	NM_015047.3(EMC1):c.2286T>G (p.Ile762Met)	EMC1, EMC1-AS1 (I762M +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503154	NM_015047.3(EMC1):c.2198A>G (p.Tyr733Cys)	EMC1, EMC1-AS1 (Y711C +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 620213	NM_015047.3(EMC1):c.2087G>A (p.Trp696Ter)	EMC1, EMC1-AS1 (W696* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2662186	NM_015047.3(EMC1):c.2067T>G (p.Asp689Glu)	EMC1, EMC1-AS1 (D667E +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 620228	NM_015047.3(EMC1):c.2059C>T (p.Arg687Ter)	EMC1, EMC1-AS1 (R687* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1023218	NM_015047.3(EMC1):c.1978C>T (p.Arg660Ter)	EMC1, EMC1-AS1 (R638* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 933808	NM_015047.3(EMC1):c.1927A>T (p.Ile643Leu)	EMC1, EMC1-AS1 (I621L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363605	NM_015047.3(EMC1):c.1915G>A (p.Val639Met)	EMC1, EMC1-AS1 (V617M +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2102090	NM_015047.3(EMC1):c.1783-8C>A	EMC1, EMC1-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 801455	NM_015047.3(EMC1):c.1751C>G (p.Pro584Arg)	EMC1, EMC1-AS1 (P583R +4 more)	Single nucleotide variant (missense variant)	Cerebellar atrophy, visual impairment, and psychomotor retardation; +1 more	GConflicting classifications of pathogenicity
Select item 1364963	NM_015047.3(EMC1):c.1703CCT[1] (p.Ser569del)	EMC1, EMC1-AS1 (S547del +4 more)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 1315286	NM_015047.3(EMC1):c.1343C>G (p.Ser448Cys)	EMC1, EMC1-AS1 (S426C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662688	NM_015047.3(EMC1):c.1181G>T (p.Ser394Ile)	EMC1, EMC1-AS1 (S372I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573685	NM_015047.3(EMC1):c.1082G>T (p.Ser361Ile)	EMC1, EMC1-AS1 (S339I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372006	NM_015047.3(EMC1):c.1060G>A (p.Gly354Arg)	EMC1, EMC1-AS1 (G332R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1170216	NM_015047.3(EMC1):c.954+16A>G	EMC1, EMC1-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3369731	NM_015047.3(EMC1):c.899A>C (p.Tyr300Ser)	EMC1, EMC1-AS1 (Y278S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364991	NM_015047.3(EMC1):c.838C>G (p.Gln280Glu)	EMC1, EMC1-AS1 (Q258E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343395	NM_015047.3(EMC1):c.835A>C (p.Thr279Pro)	EMC1, EMC1-AS1 (T257P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1424185	NM_015047.3(EMC1):c.797T>G (p.Leu266Ter)	EMC1, EMC1-AS1 (L244* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 1312336	NM_015047.3(EMC1):c.737A>C (p.Gln246Pro)	EMC1, EMC1-AS1 (Q224P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 1312337	NM_015047.3(EMC1):c.713C>T (p.Pro238Leu)	EMC1, EMC1-AS1 (P216L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 1167484	NM_015047.3(EMC1):c.696G>A (p.Glu232=)	EMC1, EMC1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cerebellar atrophy, visual impairment, and psychomotor retardation; +2 more	GBenign
Select item 1494044	NM_015047.3(EMC1):c.647C>T (p.Ser216Leu)	EMC1-AS1, EMC1 (S216L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2505056	NM_015047.3(EMC1):c.488G>T (p.Trp163Leu)	EMC1 (W141L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505801	NM_015047.3(EMC1):c.473G>A (p.Ser158Asn)	EMC1 (S136N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309031	NM_015047.3(EMC1):c.464_466del (p.His155del)	EMC1 (H133del +1 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1382560	NM_015047.3(EMC1):c.464A>T (p.His155Leu)	EMC1 (H133L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3368207	NM_015047.3(EMC1):c.440A>G (p.Lys147Arg)	EMC1 (K125R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307504	NM_015047.3(EMC1):c.425A>G (p.Tyr142Cys)	EMC1 (Y120C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804306	NM_015047.3(EMC1):c.415T>G (p.Ser139Ala)	EMC1 (S117A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1166518	NM_015047.3(EMC1):c.381-5T>C	EMC1	Single nucleotide variant (intron variant)	Cerebellar atrophy, visual impairment, and psychomotor retardation; +1 more	GBenign
Select item 219100	NM_015047.3(EMC1):c.245C>T (p.Thr82Met)	EMC1 (T82M)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3369516	NM_015047.3(EMC1):c.217A>T (p.Ile73Phe)	EMC1 (I73F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364783	NM_015047.3(EMC1):c.95+3G>C	EMC1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1221099	NC_000001.11:g.19251559C>G	EMC1	Single nucleotide variant	not provided	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 51