"Ambry Genetics"[submitter] AND "SUN1"[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2150946	NM_001130965.3(SUN1):c.7T>C (p.Phe3Leu)	LOC126859921, SUN1 (F3L +1 more)	Single nucleotide variant (missense variant +3 more)	not specified +1 more	GUncertain significance
Select item 461657	NM_001130965.3(SUN1):c.23T>C (p.Met8Thr)	LOC126859921, SUN1 (M8T +1 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 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 461659	NM_001130965.3(SUN1):c.362C>G (p.Thr121Ser)	SUN1 (T121S +4 more)	Single nucleotide variant (missense variant +2 more)	Emery-Dreifuss muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 1057576	NM_001130965.3(SUN1):c.386C>T (p.Thr129Ile)	SUN1 (T129I +4 more)	Single nucleotide variant (missense variant +2 more)	Emery-Dreifuss muscular dystrophy +1 more	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 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 2281069	NM_001130965.3(SUN1):c.502G>A (p.Gly168Arg)	SUN1 (G168R +5 more)	Single nucleotide variant (missense variant +4 more)	not specified	GUncertain significance
Select item 580749	NM_001130965.3(SUN1):c.535G>A (p.Ala179Thr)	SUN1 (A179T +5 more)	Single nucleotide variant (missense variant +4 more)	not specified +1 more	GUncertain significance
Select item 1485094	NM_001130965.3(SUN1):c.555C>G (p.Cys185Trp)	SUN1 (C135W +6 more)	Single nucleotide variant (missense variant +3 more)	not specified +1 more	GUncertain significance
Select item 1061459	NM_001130965.3(SUN1):c.581G>A (p.Arg194His)	SUN1 (A42T +7 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy +1 more	GUncertain significance
Select item 2053145	NM_001130965.3(SUN1):c.652C>A (p.Gln218Lys)	SUN1 (Q218K +6 more)	Single nucleotide variant (missense variant +4 more)	not specified +1 more	GUncertain significance
Select item 2378286	NM_001130965.3(SUN1):c.686G>C (p.Arg229Thr)	SUN1 (G114R +22 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1058865	NM_001130965.3(SUN1):c.697G>C (p.Val233Leu)	SUN1 (C16S +21 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy +1 more	GUncertain significance
Select item 461665	NM_001130965.3(SUN1):c.715A>G (p.Arg239Gly)	SUN1 (R239G +21 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy +1 more	GUncertain significance
Select item 573750	NM_001130965.3(SUN1):c.733C>G (p.Leu245Val)	SUN1 (L245V +21 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy +1 more	GUncertain significance
Select item 2164773	NM_001130965.3(SUN1):c.745G>A (p.Val249Met)	SUN1 (V223M +21 more)	Single nucleotide variant (missense variant +3 more)	not specified +1 more	GUncertain significance
Select item 1523498	NM_001130965.3(SUN1):c.767C>T (p.Ala256Val)	SUN1 (A173V +30 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 2243606	NM_001130965.3(SUN1):c.824C>T (p.Ser275Phe)	SUN1 (S192F +30 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1002198	NM_001130965.3(SUN1):c.900C>G (p.Phe300Leu)	SUN1 (F111L +31 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 652278	NM_001130965.3(SUN1):c.962T>G (p.Leu321Trp)	SUN1 (L132W +44 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 2321669	NM_001130965.3(SUN1):c.971C>T (p.Ala324Val)	SUN1 (A207V +44 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 569233	NM_001130965.3(SUN1):c.992G>A (p.Arg331Gln)	SUN1 (R331Q +45 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy +1 more	GUncertain significance
Select item 3172110	NM_001130965.3(SUN1):c.1045C>T (p.Pro349Ser)	SUN1 (P232S +45 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362760	NM_001130965.3(SUN1):c.1073C>T (p.Pro358Leu)	SUN1 (P373L +45 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246162	NM_001130965.3(SUN1):c.1156C>A (p.Leu386Met)	SUN1 (L269M +45 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1015187	NM_001130965.3(SUN1):c.1216G>A (p.Gly406Arg)	SUN1 (G168R +45 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy +1 more	GUncertain significance
Select item 947405	NM_001130965.3(SUN1):c.1240G>A (p.Ala414Thr)	SUN1 (A364T +45 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 2487517	NM_001130965.3(SUN1):c.1298T>G (p.Val433Gly)	SUN1 (V244G +50 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524665	NM_001130965.3(SUN1):c.1438C>G (p.Leu480Val)	SUN1 (L291V +50 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172111	NM_001130965.3(SUN1):c.1462G>C (p.Glu488Gln)	SUN1 (E250Q +50 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1376770	NM_001130965.3(SUN1):c.1513G>A (p.Val505Ile)	SUN1 (V388I +50 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 943395	NM_001130965.3(SUN1):c.1530C>A (p.Asp510Glu)	SUN1 (D357E +50 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2465637	NM_001130965.3(SUN1):c.1567G>A (p.Glu523Lys)	SUN1 (E467K +50 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 582611	NM_001130965.3(SUN1):c.1582G>T (p.Gly528Cys)	SUN1 (G528C +50 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1927732	NM_001130965.3(SUN1):c.1612T>C (p.Ser538Pro)	SUN1 (S300P +50 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 461641	NM_001130965.3(SUN1):c.1613C>T (p.Ser538Leu)	SUN1 (S538L +50 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy +1 more	GUncertain significance
Select item 3172113	NM_001130965.3(SUN1):c.1729G>A (p.Ala577Thr)	SUN1 (A460T +50 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1059215	NM_001130965.3(SUN1):c.1732G>A (p.Val578Met)	SUN1 (V340M +50 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy +1 more	GUncertain significance
Select item 461643	NM_001130965.3(SUN1):c.1754C>T (p.Ala585Val)	SUN1 (A585V +50 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy +1 more	GUncertain significance
Select item 530827	NM_001130965.3(SUN1):c.1861G>A (p.Gly621Ser)	SUN1 (G621S +50 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1023177	NM_001130965.3(SUN1):c.1921A>G (p.Met641Val)	SUN1 (M403V +50 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 952855	NM_001130965.3(SUN1):c.1955C>T (p.Ser652Leu)	SUN1 (S414L +50 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2726118	NM_001130965.3(SUN1):c.1956G>A (p.Ser652=)	SUN1	Single nucleotide variant (synonymous variant +1 more)	Emery-Dreifuss muscular dystrophy +1 more	GLikely benign
Select item 2207123	NM_001130965.3(SUN1):c.2068G>A (p.Ala690Thr)	SUN1 (A452T +50 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 461649	NM_001130965.3(SUN1):c.2143G>A (p.Val715Ile)	SUN1 (V715I +50 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 461652	NM_001130965.3(SUN1):c.2227A>G (p.Met743Val)	SUN1 (M743V +50 more)	Single nucleotide variant (missense variant +2 more)	Emery-Dreifuss muscular dystrophy +1 more	GUncertain significance
Select item 941919	NM_001130965.3(SUN1):c.2254G>A (p.Asp752Asn)	SUN1 (D514N +63 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 855759	NM_001130965.3(SUN1):c.2344G>A (p.Glu782Lys)	SUN1 (E629K +62 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance

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Items: 55