ClinVar for Gene (Select 2036) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338551	NM_012156.2(EPB41L1):c.1136C>T (p.Pro379Leu)	EPB41L1 (P317L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337080	NM_012156.2(EPB41L1):c.2268+4A>G	EPB41L1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3275750	NM_012156.2(EPB41L1):c.79G>A (p.Ala27Thr)	EPB41L1 (A27T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275749	NM_012156.2(EPB41L1):c.1328G>A (p.Ser443Asn)	EPB41L1 (S381N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250807	NM_012156.2(EPB41L1):c.1352A>C (p.Asp451Ala)	EPB41L1 (D388A +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3238826	NM_012156.2(EPB41L1):c.1026+4A>G	EPB41L1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 11	GUncertain significance
Select item 3089377	NM_012156.2(EPB41L1):c.853G>C (p.Val285Leu)	EPB41L1 (V223L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089375	NM_012156.2(EPB41L1):c.2320C>G (p.Gln774Glu)	EPB41L1 (Q547E +26 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089374	NM_012156.2(EPB41L1):c.2246C>T (p.Thr749Met)	EPB41L1 (T537M +15 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089373	NM_012156.2(EPB41L1):c.2138C>T (p.Pro713Leu)	EPB41L1, LOC126863021 (P639L +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089372	NM_012156.2(EPB41L1):c.2021G>A (p.Gly674Asp)	EPB41L1 (G600D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089371	NM_012156.2(EPB41L1):c.1955C>G (p.Thr652Ser)	EPB41L1 (T577S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089370	NM_012156.2(EPB41L1):c.1894G>A (p.Ala632Thr)	EPB41L1 (A557T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089369	NM_012156.2(EPB41L1):c.188T>C (p.Met63Thr)	EPB41L1 (M63T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089368	NM_012156.2(EPB41L1):c.1877G>A (p.Gly626Asp)	EPB41L1 (G613D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089367	NM_012156.2(EPB41L1):c.1867A>G (p.Thr623Ala)	EPB41L1 (T548A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089365	NM_012156.2(EPB41L1):c.1589G>A (p.Arg530Gln)	EPB41L1 (R517Q +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052328	NM_012156.2(EPB41L1):c.1242A>C (p.Ala414=)	EPB41L1	Single nucleotide variant (synonymous variant)	EPB41L1-related disorder	GLikely benign
Select item 3051190	NM_012156.2(EPB41L1):c.1949C>T (p.Ser650Leu)	EPB41L1 (S575L +5 more)	Single nucleotide variant (missense variant +1 more)	EPB41L1-related disorder	GLikely benign
Select item 3047614	NM_012156.2(EPB41L1):c.2079+4C>T	EPB41L1	Single nucleotide variant (intron variant)	EPB41L1-related disorder	GLikely benign
Select item 3046524	NM_012156.2(EPB41L1):c.2361C>T (p.Ile787=)	EPB41L1	Single nucleotide variant (synonymous variant +1 more)	EPB41L1-related disorder	GLikely benign
Select item 3043090	NM_012156.2(EPB41L1):c.2037G>A (p.Pro679=)	EPB41L1	Single nucleotide variant (synonymous variant +1 more)	EPB41L1-related disorder	GLikely benign
Select item 3032897	NM_012156.2(EPB41L1):c.1994C>T (p.Ala665Val)	EPB41L1 (A590V +5 more)	Single nucleotide variant (missense variant +1 more)	EPB41L1-related disorder	GUncertain significance
Select item 3029252	NM_012156.2(EPB41L1):c.2079+5A>G	EPB41L1	Single nucleotide variant (intron variant)	EPB41L1-related disorder	GLikely benign
Select item 3026798	NM_012156.2(EPB41L1):c.1330G>A (p.Glu444Lys)	EPB41L1 (E381K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025316	NM_012156.2(EPB41L1):c.1394G>A (p.Arg465Gln)	EPB41L1 (R402Q +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2684905	GRCh37/hg19 20q11.23(chr20:34795376-35025530)x3	AAR2, DLGAP4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2682429	NM_012156.2(EPB41L1):c.665C>T (p.Ala222Val)	EPB41L1 (A160V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652298	NM_012156.2(EPB41L1):c.2610C>G (p.Ser870=)	EPB41L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652297	NM_012156.2(EPB41L1):c.1732_1733del (p.Glu577_Ser578insTer)	EPB41L1	Microsatellite (nonsense +1 more)	not provided	GUncertain significance
Select item 2652296	NM_012156.2(EPB41L1):c.1714C>T (p.Arg572Cys)	EPB41L1 (R497C +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2652295	NM_012156.2(EPB41L1):c.1669-1775C>A	EPB41L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2652294	NM_012156.2(EPB41L1):c.1669-3105C>T	EPB41L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2652293	NM_012156.2(EPB41L1):c.1669-3415A>C	EPB41L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2652292	NM_012156.2(EPB41L1):c.1201G>A (p.Ala401Thr)	EPB41L1 (A339T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2652291	NM_012156.2(EPB41L1):c.783T>C (p.Tyr261=)	EPB41L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652290	NM_012156.2(EPB41L1):c.414C>T (p.Phe138=)	EPB41L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652289	NM_012156.2(EPB41L1):c.240C>A (p.Pro80=)	EPB41L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652288	NM_012156.2(EPB41L1):c.213C>T (p.Ala71=)	EPB41L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2616521	NM_012156.2(EPB41L1):c.133A>G (p.Asn45Asp)	EPB41L1 (N45D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614920	NM_012156.2(EPB41L1):c.2161G>T (p.Val721Phe)	EPB41L1, LOC126863021 (V522F +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613631	NM_012156.2(EPB41L1):c.123G>T (p.Glu41Asp)	EPB41L1 (E41D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608820	NM_012156.2(EPB41L1):c.2218T>A (p.Phe740Ile)	EPB41L1 (F527I +15 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599671	NM_012156.2(EPB41L1):c.740C>G (p.Thr247Ser)	EPB41L1 (T247S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2577083	NM_012156.2(EPB41L1):c.1318G>C (p.Ala440Pro)	EPB41L1 (A378P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539461	NM_012156.2(EPB41L1):c.2354C>T (p.Pro785Leu)	EPB41L1 (P784L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493081	NM_012156.2(EPB41L1):c.1462A>G (p.Thr488Ala)	EPB41L1 (T488A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397915	NM_012156.2(EPB41L1):c.161C>T (p.Thr54Met)	EPB41L1 (T54M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397829	NM_012156.2(EPB41L1):c.112G>A (p.Gly38Ser)	EPB41L1 (G38S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389067	NM_012156.2(EPB41L1):c.1975C>T (p.Arg659Trp)	EPB41L1 (R659W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367424	NM_012156.2(EPB41L1):c.2240T>C (p.Ile747Thr)	EPB41L1 (I567T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361433	NM_012156.2(EPB41L1):c.353G>A (p.Arg118Gln)	EPB41L1 (R118Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343260	NM_012156.2(EPB41L1):c.1405G>A (p.Glu469Lys)	EPB41L1 (E438K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330271	NM_012156.2(EPB41L1):c.197A>G (p.Lys66Arg)	EPB41L1 (K35R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324988	NM_012156.2(EPB41L1):c.1763A>T (p.Glu588Val)	EPB41L1 (E514V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309196	NM_012156.2(EPB41L1):c.129C>G (p.Asn43Lys)	EPB41L1 (N43K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284046	NM_012156.2(EPB41L1):c.1978G>C (p.Asp660His)	EPB41L1 (D660H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2274604	NM_012156.2(EPB41L1):c.22G>A (p.Asp8Asn)	EPB41L1 (D8N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267384	NM_012156.2(EPB41L1):c.1943G>A (p.Ser648Asn)	EPB41L1 (S648N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257370	NM_012156.2(EPB41L1):c.2351C>G (p.Ser784Cys)	EPB41L1 (S682C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249443	NM_012156.2(EPB41L1):c.1396T>A (p.Ser466Thr)	EPB41L1 (S404T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244713	NM_012156.2(EPB41L1):c.1664A>G (p.Asn555Ser)	EPB41L1 (N481S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2228348	NM_012156.2(EPB41L1):c.1603G>C (p.Glu535Gln)	EPB41L1 (E535Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224932	NM_012156.2(EPB41L1):c.2255T>C (p.Ile752Thr)	EPB41L1 (I751T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1878288	NM_012156.2(EPB41L1):c.1684G>A (p.Glu562Lys)	EPB41L1 (E488K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809278	GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	AAR2, ACSS2 +98 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808687	GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3	ACSS2, ACTL10 +86 more	Copy number gain	not provided	GLikely pathogenic
Select item 1805753	NM_001258330.1(EPB41L1):c.17G>A (p.Arg6Lys)	EPB41L1 (R6K)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 11	GUncertain significance
Select item 1803745	NM_012156.2(EPB41L1):c.1807C>T (p.Arg603Cys)	EPB41L1 (R529C +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 11	GUncertain significance
Select item 1778159	NM_012156.2(EPB41L1):c.1692C>T (p.Ser564=)	EPB41L1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1773465	NM_012156.2(EPB41L1):c.1476C>T (p.His492=)	EPB41L1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1707595	NM_012156.2(EPB41L1):c.1982T>C (p.Leu661Pro)	EPB41L1, EPB41L1-AS1 (L587P +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 11	GUncertain significance
Select item 1341873	NM_012156.2(EPB41L1):c.130T>C (p.Ser44Pro)	EPB41L1 (S44P)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 11	GUncertain significance
Select item 1338253	NM_012156.2(EPB41L1):c.1180C>T (p.Arg394Trp)	EPB41L1 (R332W +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1337118	NM_012156.2(EPB41L1):c.1781T>C (p.Leu594Pro)	EPB41L1 (L520P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1336827	NM_012156.2(EPB41L1):c.343-6C>T	EPB41L1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1301595	NM_001258329.1(EPB41L1):c.-15+11729G>A	EPB41L1	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1027767	NM_012156.2(EPB41L1):c.1892G>T (p.Ser631Ile)	EPB41L1 (S631I +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 11	GUncertain significance
Select item 975688	NM_012156.2(EPB41L1):c.2269_2271del	EPB41L1	Deletion (splice acceptor variant)	Intellectual disability	GLikely benign
Select item 975550	NM_012156.2(EPB41L1):c.1325T>A (p.Val442Asp)	EPB41L1 (V380D +2 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 975549	NM_012156.2(EPB41L1):c.1600C>T (p.Arg534Trp)	EPB41L1 (R460W +2 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 931461	NM_012156.2(EPB41L1):c.2207T>C (p.Val736Ala)	EPB41L1 (V736A +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 11	GUncertain significance
Select item 793557	NM_012156.2(EPB41L1):c.1791C>T (p.Asn597=)	EPB41L1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 788625	NM_012156.2(EPB41L1):c.1182G>A (p.Arg394=)	EPB41L1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 787147	NM_012156.2(EPB41L1):c.1026+10C>T	EPB41L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 775435	NM_012156.2(EPB41L1):c.582G>C (p.Leu194=)	EPB41L1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 762410	NM_012156.2(EPB41L1):c.786-10T>C	EPB41L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 756776	NM_012156.2(EPB41L1):c.372C>T (p.Asp124=)	EPB41L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 756350	NM_012156.2(EPB41L1):c.566+7G>A	EPB41L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 747522	NM_012156.2(EPB41L1):c.849C>T (p.Tyr283=)	EPB41L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742788	NM_012156.2(EPB41L1):c.1401G>A (p.Glu467=)	EPB41L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 740862	NM_012156.2(EPB41L1):c.2638-4C>T	EPB41L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 736818	NM_012156.2(EPB41L1):c.768G>A (p.Glu256=)	EPB41L1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 736431	NM_012156.2(EPB41L1):c.942G>A (p.Leu314=)	EPB41L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736255	NM_012156.2(EPB41L1):c.111C>T (p.His37=)	EPB41L1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 735599	NM_012156.2(EPB41L1):c.903C>T (p.Gly301=)	EPB41L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 731743	NM_012156.2(EPB41L1):c.566+8C>T	EPB41L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 727921	NM_012156.2(EPB41L1):c.1635C>T (p.Pro545=)	EPB41L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 711243	NM_012156.2(EPB41L1):c.1323G>A (p.Ser441=)	EPB41L1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 689044	GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3	AAR2, ACSS2 +88 more	Copy number gain	not provided	GPathogenic

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