"Dept Of Ophthalmology, Nagoya University"[submitter] AND "EMC1"[gene] - ClinVar

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

Search results

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3027511	NM_015047.3(EMC1):c.2638C>G (p.Pro880Ala)	EMC1, EMC1-AS1 (P858A +4 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 730026	NM_015047.3(EMC1):c.2553C>T (p.Ile851=)	EMC1, EMC1-AS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 739966	NM_015047.3(EMC1):c.2454C>T (p.Asn818=)	EMC1, EMC1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 756413	NM_015047.3(EMC1):c.2418C>T (p.Thr806=)	EMC1, EMC1-AS1	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GLikely benign
Select item 1413896	NM_015047.3(EMC1):c.2408A>G (p.Asn803Ser)	EMC1, EMC1-AS1 (N805S +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1986365	NM_015047.3(EMC1):c.2405G>A (p.Arg802His)	EMC1, EMC1-AS1 (R801H +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1345905	NM_015047.3(EMC1):c.2404C>T (p.Arg802Cys)	EMC1, EMC1-AS1 (R780C +4 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 3028818	NM_015047.3(EMC1):c.2317T>A (p.Ser773Thr)	EMC1, EMC1-AS1 (S751T +4 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 713444	NM_015047.3(EMC1):c.2054G>A (p.Arg685Gln)	EMC1, EMC1-AS1 (R684Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1346976	NM_015047.3(EMC1):c.2025T>G (p.Asp675Glu)	EMC1, EMC1-AS1 (D674E +4 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GUncertain significance
Select item 1475136	NM_015047.3(EMC1):c.2008T>C (p.Phe670Leu)	EMC1, EMC1-AS1 (F670L +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3027597	NM_015047.3(EMC1):c.1897G>T (p.Asp633Tyr)	EMC1, EMC1-AS1 (D611Y +4 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 710872	NM_015047.3(EMC1):c.1787C>T (p.Ser596Leu)	EMC1, EMC1-AS1 (S598L +4 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GBenign
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 1522833	NM_015047.3(EMC1):c.1676A>G (p.Gln559Arg)	EMC1, EMC1-AS1 (Q559R +4 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 3027751	NM_015047.3(EMC1):c.1321G>A (p.Val441Met)	EMC1, EMC1-AS1 (V419M +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 735067	NM_015047.3(EMC1):c.1202G>A (p.Arg401Gln)	EMC1, EMC1-AS1 (R401Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 772677	NM_015047.3(EMC1):c.1169C>T (p.Thr390Met)	EMC1, EMC1-AS1 (T389M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3027876	NM_015047.3(EMC1):c.1168A>G (p.Thr390Ala)	EMC1, EMC1-AS1 (T368A +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 1356492	NM_015047.3(EMC1):c.1138G>A (p.Val380Met)	EMC1, EMC1-AS1 (V358M +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 1170881	NM_015047.3(EMC1):c.1040G>A (p.Ser347Asn)	EMC1, EMC1-AS1 (S325N +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1166517	NM_015047.3(EMC1):c.1034G>C (p.Ser345Thr)	EMC1, EMC1-AS1 (S323T +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GBenign
Select item 3028095	NM_015047.3(EMC1):c.979A>C (p.Thr327Pro)	EMC1, EMC1-AS1 (T305P +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028144	NM_015047.3(EMC1):c.948C>T (p.Phe316=)	EMC1, EMC1-AS1	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GLikely pathogenic
Select item 1170013	NM_015047.3(EMC1):c.884T>C (p.Leu295Ser)	EMC1, EMC1-AS1 (L273S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1534559	NM_015047.3(EMC1):c.855C>T (p.Asp285=)	EMC1, EMC1-AS1	Single nucleotide variant (synonymous variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 739597	NM_015047.3(EMC1):c.824G>A (p.Arg275Gln)	EMC1, EMC1-AS1 (R253Q +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GLikely benign
Select item 3028339	NM_015047.3(EMC1):c.823C>G (p.Arg275Gly)	EMC1, EMC1-AS1 (R253G +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 1388715	NM_015047.3(EMC1):c.823C>T (p.Arg275Trp)	EMC1, EMC1-AS1 (R275W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1805682	NM_015047.3(EMC1):c.820C>T (p.Pro274Ser)	EMC1, EMC1-AS1 (P252S +1 more)	Single nucleotide variant (missense variant)	Cerebellar atrophy, visual impairment, and psychomotor retardation; +1 more	GUncertain significance
Select item 1381156	NM_015047.3(EMC1):c.793G>A (p.Asp265Asn)	EMC1, EMC1-AS1 (D243N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1167484	NM_015047.3(EMC1):c.696G>A (p.Glu232=)	EMC1, EMC1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Retinal dystrophy +2 more	GBenign
Select item 1083368	NM_015047.3(EMC1):c.692A>G (p.Asp231Gly)	EMC1, EMC1-AS1 (D209G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Retinal dystrophy +1 more	GLikely benign
Select item 3028567	NM_015047.3(EMC1):c.662A>G (p.Gln221Arg)	EMC1, EMC1-AS1 (Q199R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 1024783	NM_015047.3(EMC1):c.555G>A (p.Val185=)	EMC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1170014	NM_015047.3(EMC1):c.342C>T (p.Ile114=)	EMC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3028634	NM_015047.3(EMC1):c.294C>T (p.Ile98=)	EMC1	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 2102121	NM_015047.3(EMC1):c.155A>G (p.Lys52Arg)	EMC1 (K52R)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 3028641	NM_015047.3(EMC1):c.107A>C (p.Tyr36Ser)	EMC1 (Y36S)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028647	NM_015047.3(EMC1):c.38C>T (p.Ala13Val)	EMC1 (A13V)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 1960064	NM_015047.3(EMC1):c.22C>G (p.Arg8Gly)	EMC1 (R8G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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: 41