SUN1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1263462	NM_025154.6(SUN1):c.-74+1042A>G	SUN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2015805	NM_001130965.3(SUN1):c.78-19A>G	SUN1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1535852	NM_001130965.3(SUN1):c.78-15G>A	SUN1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 461669	NM_001130965.3(SUN1):c.78-4C>T	SUN1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GBenign
Select item 461668	NM_001130965.3(SUN1):c.78-3T>C	SUN1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GBenign
Select item 2727705	NM_001130965.3(SUN1):c.94G>A (p.Asp32Asn)	SUN1 (D32N +2 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 461639	NM_001130965.3(SUN1):c.114G>A (p.Thr38=)	SUN1	Single nucleotide variant (synonymous variant +3 more)	not provided +1 more	GBenign
Select item 2047545	NM_001130965.3(SUN1):c.120C>G (p.His40Gln)	SUN1 (H113Q +2 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2193067	NM_001130965.3(SUN1):c.129C>T (p.Asp43=)	SUN1	Single nucleotide variant (synonymous variant +3 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 1085088	NM_001130965.3(SUN1):c.132T>A (p.Pro44=)	SUN1	Single nucleotide variant (synonymous variant +3 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 943140	NM_001130965.3(SUN1):c.148C>T (p.Arg50Trp)	SUN1 (R50W +2 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2733620	NM_001130965.3(SUN1):c.149G>A (p.Arg50Gln)	SUN1 (R71Q +2 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2704597	NM_001130965.3(SUN1):c.157C>T (p.Arg53Cys)	SUN1 (R53C +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2419511	NM_001130965.3(SUN1):c.160C>T (p.Arg54Cys)	SUN1 (R127C +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 583170	NM_001130965.3(SUN1):c.161G>A (p.Arg54His)	SUN1 (R54H +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 647532	NM_001130965.3(SUN1):c.163A>G (p.Ser55Gly)	SUN1 (S128G +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy +1 more	GUncertain significance
Select item 2076016	NM_001130965.3(SUN1):c.169C>T (p.Arg57Cys)	SUN1 (R130C +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy +1 more	GUncertain significance
Select item 2079334	NM_001130965.3(SUN1):c.170G>A (p.Arg57His)	SUN1 (R130H +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1140270	NM_001130965.3(SUN1):c.174G>C (p.Leu58=)	SUN1	Single nucleotide variant (synonymous variant +3 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 1621190	NM_001130965.3(SUN1):c.177C>T (p.Ala59=)	SUN1	Single nucleotide variant (synonymous variant +3 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 847938	NM_001130965.3(SUN1):c.179C>T (p.Thr60Met)	SUN1 (T81M +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy +1 more	GUncertain significance
Select item 1585505	NM_001130965.3(SUN1):c.180G>A (p.Thr60=)	SUN1	Single nucleotide variant (synonymous variant +3 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2197361	NM_001130965.3(SUN1):c.185C>T (p.Ala62Val)	SUN1 (A135V +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2604980	NM_001130965.3(SUN1):c.188G>T (p.Cys63Phe)	SUN1 (C136F +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 838727	NM_001130965.3(SUN1):c.189C>T (p.Cys63=)	SUN1	Single nucleotide variant (synonymous variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1561434	NM_001130965.3(SUN1):c.193C>T (p.Leu65=)	SUN1	Single nucleotide variant (synonymous variant +3 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 1480382	NM_001130965.3(SUN1):c.200A>T (p.Asp67Val)	SUN1 (D88V +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1169231	NM_001130965.3(SUN1):c.203G>A (p.Gly68Asp)	SUN1 (G141D +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GBenign
Select item 1914297	NM_001130965.3(SUN1):c.219C>T (p.Ala73=)	SUN1	Single nucleotide variant (synonymous variant +3 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 461651	NM_001130965.3(SUN1):c.220G>A (p.Asp74Asn)	SUN1 (D74N +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1530443	NM_001130965.3(SUN1):c.225C>T (p.Ser75=)	SUN1	Single nucleotide variant (synonymous variant +3 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 1433425	NM_001130965.3(SUN1):c.226G>A (p.Gly76Ser)	SUN1 (G97S +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 461655	NM_001130965.3(SUN1):c.226G>T (p.Gly76Cys)	SUN1 (G76C +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GBenign
Select item 705673	NM_001130965.3(SUN1):c.227G>C (p.Gly76Ala)	SUN1 (G149A +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 1052100	NM_001130965.3(SUN1):c.233G>A (p.Ser78Asn)	SUN1 (S151N +3 more)	Single nucleotide variant (missense variant +3 more)	not specified +1 more	GUncertain significance
Select item 461656	NM_001130965.3(SUN1):c.235A>G (p.Ser79Gly)	SUN1 (S79G +3 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GLikely benign
Select item 1001133	NM_001130965.3(SUN1):c.238G>A (p.Ala80Thr)	SUN1 (A101T +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2827892	NM_001130965.3(SUN1):c.240T>C (p.Ala80=)	SUN1	Single nucleotide variant (synonymous variant +3 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2916738	NM_001130965.3(SUN1):c.241G>C (p.Val81Leu)	SUN1 (V31L +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 856663	NM_001130965.3(SUN1):c.241G>A (p.Val81Ile)	SUN1 (V154I +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1125248	NM_001130965.3(SUN1):c.243C>T (p.Val81=)	SUN1	Single nucleotide variant (synonymous variant +3 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2956297	NM_001130965.3(SUN1):c.251A>G (p.Lys84Arg)	SUN1 (K34R +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1916103	NM_001130965.3(SUN1):c.254A>T (p.Asn85Ile)	SUN1 (N158I +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1364476	NM_001130965.3(SUN1):c.257G>A (p.Arg86Gln)	SUN1 (R107Q +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 703907	NM_001130965.3(SUN1):c.257G>C (p.Arg86Pro)	SUN1 (R36P +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GBenign
Select item 2710888	NM_001130965.3(SUN1):c.258A>G (p.Arg86=)	SUN1	Single nucleotide variant (synonymous variant +3 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 1051305	NM_001130965.3(SUN1):c.260C>T (p.Ala87Val)	SUN1 (A108V +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2728930	NM_001130965.3(SUN1):c.261G>A (p.Ala87=)	SUN1	Single nucleotide variant (synonymous variant +3 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 1542207	NM_001130965.3(SUN1):c.266+10G>A	SUN1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2011152	NM_001130965.3(SUN1):c.266+19C>G	SUN1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2157581	NM_001130965.3(SUN1):c.266+20C>T	SUN1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 1253189	NM_001130965.3(SUN1):c.266+144T>C	SUN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242468	NM_001130965.3(SUN1):c.267-194G>A	SUN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1598663	NM_001130965.3(SUN1):c.267-9dup	SUN1	Duplication (intron variant)	Emery-Dreifuss muscular dystrophy	GBenign
Select item 2908976	NM_001130965.3(SUN1):c.267-9del	SUN1	Deletion (intron variant)	Emery-Dreifuss muscular dystrophy	GBenign
Select item 1538081	NM_001130965.3(SUN1):c.267-17T>G	SUN1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 1531628	NM_001130965.3(SUN1):c.267-16T>G	SUN1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 1898265	NM_001130965.3(SUN1):c.267-10T>C	SUN1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 864056	NM_001130965.3(SUN1):c.267-6del	SUN1	Deletion (intron variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 461658	NM_001130965.3(SUN1):c.278A>C (p.Gln93Pro)	SUN1 (Q93P +4 more)	Single nucleotide variant (missense variant +2 more)	Emery-Dreifuss muscular dystrophy	GBenign
Select item 643085	NM_001130965.3(SUN1):c.281G>A (p.Arg94His)	SUN1 (R167H +4 more)	Single nucleotide variant (missense variant +2 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1357749	NM_001130965.3(SUN1):c.289A>T (p.Thr97Ser)	SUN1 (T97S +4 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 1054417	NM_001130965.3(SUN1):c.296A>G (p.Lys99Arg)	SUN1 (K120R +4 more)	Single nucleotide variant (missense variant +2 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1670103	NM_001130965.3(SUN1):c.309T>C (p.Ser103=)	SUN1	Single nucleotide variant (synonymous variant +2 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2294826	NM_001130965.3(SUN1):c.316C>T (p.His106Tyr)	SUN1 (H106Y +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1361622	NM_001130965.3(SUN1):c.319G>A (p.Val107Met)	SUN1 (V180M +4 more)	Single nucleotide variant (missense variant +2 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 639158	NM_001130965.3(SUN1):c.326G>C (p.Arg109Thr)	SUN1 (R109T +4 more)	Single nucleotide variant (missense variant +2 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 530823	NM_001130965.3(SUN1):c.335C>T (p.Thr112Met)	SUN1 (T112M +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1107571	NM_001130965.3(SUN1):c.345C>T (p.Gly115=)	SUN1	Single nucleotide variant (synonymous variant +2 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 530826	NM_001130965.3(SUN1):c.346G>A (p.Val116Ile)	SUN1 (V116I +4 more)	Single nucleotide variant (missense variant +2 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1165168	NM_001130965.3(SUN1):c.352C>T (p.His118Tyr)	SUN1 (H118Y +4 more)	Single nucleotide variant (missense variant +2 more)	Emery-Dreifuss muscular dystrophy +1 more	GBenign
Select item 2335402	NM_001130965.3(SUN1):c.355G>C (p.Gly119Arg)	SUN1 (G192R +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2160188	NM_001130965.3(SUN1):c.355G>A (p.Gly119Ser)	SUN1 (G140S +4 more)	Single nucleotide variant (missense variant +2 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2722690	NM_001130965.3(SUN1):c.357C>T (p.Gly119=)	SUN1	Single nucleotide variant (synonymous variant +2 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 703897	NM_001130965.3(SUN1):c.358G>A (p.Gly120Ser)	SUN1 (G141S +4 more)	Single nucleotide variant (missense variant +2 more)	Emery-Dreifuss muscular dystrophy	GBenign
Select item 461659	NM_001130965.3(SUN1):c.362C>G (p.Thr121Ser)	SUN1 (T121S +4 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1102429	NM_001130965.3(SUN1):c.363T>C (p.Thr121=)	SUN1	Single nucleotide variant (synonymous variant +2 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 461660	NM_001130965.3(SUN1):c.366C>T (p.Val122=)	SUN1	Single nucleotide variant (synonymous variant +2 more)	Emery-Dreifuss muscular dystrophy	GBenign
Select item 578800	NM_001130965.3(SUN1):c.368G>C (p.Ser123Thr)	SUN1 (S123T +4 more)	Single nucleotide variant (missense variant +2 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1969680	NM_001130965.3(SUN1):c.369C>T (p.Ser123=)	SUN1	Single nucleotide variant (synonymous variant +2 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 1509216	NM_001130965.3(SUN1):c.385A>G (p.Thr129Ala)	SUN1 (T79A +4 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1057576	NM_001130965.3(SUN1):c.386C>T (p.Thr129Ile)	SUN1 (T129I +4 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 2902032	NM_001130965.3(SUN1):c.388C>T (p.Arg130Ter)	SUN1 (R130* +4 more)	Single nucleotide variant (nonsense +2 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 659537	NM_001130965.3(SUN1):c.389G>A (p.Arg130Gln)	SUN1 (R130Q +4 more)	Single nucleotide variant (missense variant +2 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 530828	NM_001130965.3(SUN1):c.389G>T (p.Arg130Leu)	SUN1 (R130L +4 more)	Single nucleotide variant (missense variant +2 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2058706	NM_001130965.3(SUN1):c.397C>T (p.Pro133Ser)	SUN1 (P154S +4 more)	Single nucleotide variant (missense variant +2 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1046692	NM_001130965.3(SUN1):c.398C>A (p.Pro133His)	SUN1 (P206H +4 more)	Single nucleotide variant (missense variant +2 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2781144	NM_001130965.3(SUN1):c.402A>T (p.Val134=)	SUN1	Single nucleotide variant (synonymous variant +2 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 1609961	NM_001130965.3(SUN1):c.408C>T (p.Asp136=)	SUN1	Single nucleotide variant (synonymous variant +2 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 1967732	NM_001130965.3(SUN1):c.413C>G (p.Ser138Cys)	SUN1 (S138C +4 more)	Single nucleotide variant (missense variant +2 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2400178	NM_001130965.3(SUN1):c.421C>T (p.Arg141Cys)	SUN1 (R141C +4 more)	Single nucleotide variant (missense variant +2 more)	Emery-Dreifuss muscular dystrophy +1 more	GUncertain significance
Select item 1929877	NM_001130965.3(SUN1):c.422G>A (p.Arg141His)	SUN1 (R141H +4 more)	Single nucleotide variant (missense variant +2 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 934178	NM_001130965.3(SUN1):c.424G>C (p.Glu142Gln)	SUN1 (E163Q +4 more)	Single nucleotide variant (missense variant +2 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1577929	NM_001130965.3(SUN1):c.429G>A (p.Gln143=)	SUN1	Single nucleotide variant (synonymous variant +2 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2284207	NM_001130965.3(SUN1):c.434C>T (p.Thr145Ile)	SUN1 (T82I +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1119684	NM_001130965.3(SUN1):c.435A>G (p.Thr145=)	SUN1	Single nucleotide variant (synonymous variant +2 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 1386090	NM_001130965.3(SUN1):c.447C>A (p.Phe149Leu)	SUN1 (F170L +4 more)	Single nucleotide variant (missense variant +2 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2969875	NM_001130965.3(SUN1):c.449G>C (p.Trp150Ser)	SUN1 (W100S +4 more)	Single nucleotide variant (missense variant +2 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 737051	NM_001130965.3(SUN1):c.451+7C>T	SUN1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 1634957	NM_001130965.3(SUN1):c.451+13G>A	SUN1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy +1 more	GLikely benign

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