ClinVar for Gene (Select 55780) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
Select item 3090303	NM_018341.3(ERMARD):c.91A>G (p.Asn31Asp)	ERMARD (N31D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090302	NM_018341.3(ERMARD):c.692A>G (p.His231Arg)	ERMARD (H105R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090301	NM_018341.3(ERMARD):c.568T>C (p.Trp190Arg)	ERMARD (W64R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090300	NM_018341.3(ERMARD):c.406G>A (p.Ala136Thr)	ERMARD (A10T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090299	NM_018341.3(ERMARD):c.329T>C (p.Ile110Thr)	ERMARD (I110T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090297	NM_018341.3(ERMARD):c.1937A>G (p.Asn646Ser)	ERMARD (N646S +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3090296	NM_018341.3(ERMARD):c.1828G>T (p.Ala610Ser)	ERMARD (A563S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090295	NM_018341.3(ERMARD):c.1706G>A (p.Arg569His)	ERMARD (R443H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090294	NM_018341.3(ERMARD):c.1654G>A (p.Val552Ile)	ERMARD (V552I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090293	NM_018341.3(ERMARD):c.143C>T (p.Thr48Ile)	ERMARD (T48I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090292	NM_018341.3(ERMARD):c.1172T>G (p.Leu391Arg)	ERMARD (L255R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090291	NM_018341.3(ERMARD):c.116C>G (p.Thr39Ser)	ERMARD (T39S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090290	NM_018341.3(ERMARD):c.1123G>A (p.Gly375Arg)	ERMARD (G249R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090289	NM_018341.3(ERMARD):c.1115T>C (p.Leu372Ser)	ERMARD (L372S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068306	NM_018341.3(ERMARD):c.1395-1G>T	ERMARD	Single nucleotide variant (splice acceptor variant)	Periventricular nodular heterotopia 6	GLikely pathogenic
Select item 3062910	GRCh37/hg19 6q26-27(chr6:162079329-170919482)x1	AFDN, C6orf118 +33 more	Copy number loss	not specified	GPathogenic
Select item 3062904	GRCh37/hg19 6q27(chr6:170158867-170919482)x1	DLL1, ERMARD +4 more	Copy number loss	not specified	GLikely pathogenic
Select item 3055072	NM_018341.3(ERMARD):c.1782C>T (p.Leu594=)	ERMARD	Single nucleotide variant (synonymous variant)	ERMARD-related disorder	GLikely benign
Select item 3049949	NM_018341.3(ERMARD):c.1099C>T (p.Arg367Cys)	ERMARD (R231C +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3036402	NM_018341.3(ERMARD):c.1521-63A>G	ERMARD (R527G)	Single nucleotide variant (missense variant +1 more)	ERMARD-related disorder	GLikely benign
Select item 3031903	NM_018341.3(ERMARD):c.1830G>A (p.Ala610=)	ERMARD	Single nucleotide variant (synonymous variant)	ERMARD-related disorder	GLikely benign
Select item 3025585	NM_018341.3(ERMARD):c.1634G>A (p.Arg545His)	ERMARD (R409H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3024639	GRCh37/hg19 6q26-27(chr6:162124972-170893669)x1	AFDN, C6orf118 +33 more	Copy number loss	not provided	GPathogenic
Select item 3023434	NM_018341.3(ERMARD):c.694C>T (p.Arg232Cys)	ERMARD (R106C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021970	NM_018341.3(ERMARD):c.796T>C (p.Phe266Leu)	ERMARD (F140L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021680	NM_018341.3(ERMARD):c.1486G>T (p.Val496Leu)	ERMARD (V370L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016017	NM_018341.3(ERMARD):c.361_363del (p.Ala121del)	ERMARD (A121del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 3010550	NM_018341.3(ERMARD):c.623T>C (p.Ile208Thr)	ERMARD (I208T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993184	NM_018341.3(ERMARD):c.961-5T>C	ERMARD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989555	NM_018341.3(ERMARD):c.1371A>G (p.Glu457=)	ERMARD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988160	NM_018341.3(ERMARD):c.6+15G>C	ERMARD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979783	NM_018341.3(ERMARD):c.428T>G (p.Leu143Arg)	ERMARD (L17R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970560	NM_018341.3(ERMARD):c.201C>T (p.Ser67=)	ERMARD	Single nucleotide variant (synonymous variant +1 more)	ERMARD-related disorder +1 more	GLikely benign
Select item 2969049	NM_018341.3(ERMARD):c.1740-17C>T	ERMARD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965078	NM_018341.3(ERMARD):c.1216C>T (p.Leu406=)	ERMARD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960672	NM_018341.3(ERMARD):c.1610G>A (p.Arg537Gln)	ERMARD (R537Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2959187	NM_018341.3(ERMARD):c.6+12G>A	ERMARD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2955143	NM_018341.3(ERMARD):c.743-16G>A	ERMARD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917339	NM_018341.3(ERMARD):c.1489T>A (p.Leu497Ile)	ERMARD (L497I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2908115	NM_018341.3(ERMARD):c.1204G>A (p.Val402Ile)	ERMARD (V276I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2905574	NM_018341.3(ERMARD):c.1389del (p.Val464fs)	ERMARD (V328fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2887130	NM_018341.3(ERMARD):c.1780C>A (p.Leu594Ile)	ERMARD (L458I +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2885880	NM_018341.3(ERMARD):c.1854-10T>G	ERMARD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2881226	NM_018341.3(ERMARD):c.1183C>T (p.Leu395Phe)	ERMARD (L259F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879236	NM_018341.3(ERMARD):c.1758T>G (p.Pro586=)	ERMARD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870275	NM_018341.3(ERMARD):c.1569G>C (p.Leu523=)	ERMARD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2803752	NM_018341.3(ERMARD):c.1736G>A (p.Ser579Asn)	ERMARD (S453N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2800053	NM_018341.3(ERMARD):c.417+1G>A	ERMARD	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2798582	NM_018341.3(ERMARD):c.461A>T (p.Asp154Val)	ERMARD (D154V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2785301	NM_018341.3(ERMARD):c.509T>C (p.Met170Thr)	ERMARD (M170T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2783955	NM_018341.3(ERMARD):c.991-11del	ERMARD	Deletion (intron variant)	not provided	GBenign
Select item 2778854	NM_018341.3(ERMARD):c.961-16C>A	ERMARD	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2721428	NM_018341.3(ERMARD):c.379A>G (p.Met127Val)	ERMARD (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2712410	NM_018341.3(ERMARD):c.1295C>T (p.Pro432Leu)	ERMARD (P306L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2709535	NM_018341.3(ERMARD):c.743-15T>C	ERMARD	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2707242	NM_018341.3(ERMARD):c.1829C>T (p.Ala610Val)	ERMARD (A537V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688697	NM_018341.3(ERMARD):c.1819G>C (p.Gly607Arg)	ERMARD (G471R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685219	GRCh37/hg19 6q27(chr6:167091844-170919482)x1	AFDN, C6orf120 +22 more	Copy number loss	not provided	GPathogenic
Select item 2657148	NM_018341.3(ERMARD):c.1694C>T (p.Thr565Met)	ERMARD (T429M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2657147	NM_018341.3(ERMARD):c.1369G>A (p.Glu457Lys)	ERMARD (E321K +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2657146	NM_018341.3(ERMARD):c.675T>A (p.Thr225=)	ERMARD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2629129	NM_018341.3(ERMARD):c.1521-120C>A	ERMARD (P508T)	Single nucleotide variant (missense variant +1 more)	ERMARD-related disorder	GUncertain significance
Select item 2611737	NM_018341.3(ERMARD):c.1712G>C (p.Arg571Pro)	ERMARD (R571P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608776	NM_018341.3(ERMARD):c.733G>T (p.Val245Phe)	ERMARD (V245F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603206	NM_018341.3(ERMARD):c.818C>T (p.Pro273Leu)	ERMARD (P147L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583044	GRCh37/hg19 6q25.3-27(chr6:160952761-170892276)x1	AFDN, AGPAT4 +37 more	Copy number loss	not provided	GPathogenic
Select item 2579276	GRCh38/hg38 6q26-27(chr6:161349282-170584790)x1	AFDN, AFDN-DT +254 more	Copy number loss	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GPathogenic
Select item 2571271	GRCh37/hg19 6q25.3-27(chr6:159006336-170713678)x3	ACAT2, AFDN +54 more	Copy number gain	not provided	GUncertain significance
Select item 2570552	NM_018341.3(ERMARD):c.1267G>A (p.Ala423Thr)	ERMARD (A287T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551399	NM_018341.3(ERMARD):c.554T>C (p.Leu185Pro)	ERMARD (L185P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2543747	NM_018341.3(ERMARD):c.1446G>A (p.Met482Ile)	ERMARD (M346I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2539444	NM_174910.3(DYNLT2):c.67G>C (p.Ala23Pro)	DYNLT2, ERMARD (A23P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2536575	NM_018341.3(ERMARD):c.713C>G (p.Thr238Arg)	ERMARD (T112R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530947	NM_018341.3(ERMARD):c.170A>G (p.Glu57Gly)	ERMARD (E57G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515313	NM_018341.3(ERMARD):c.1909G>A (p.Glu637Lys)	ERMARD (E501K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494654	NM_018341.3(ERMARD):c.801A>G (p.Ile267Met)	ERMARD (I141M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493134	NM_018341.3(ERMARD):c.1572C>G (p.Phe524Leu)	ERMARD (F398L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474111	NM_018341.3(ERMARD):c.647A>C (p.Gln216Pro)	ERMARD (Q90P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467053	NM_018341.3(ERMARD):c.839T>C (p.Val280Ala)	ERMARD (V280A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456844	NM_018341.3(ERMARD):c.1325G>A (p.Ser442Asn)	ERMARD (S442N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445504	NC_000006.11:g.(?_170151754)_(170599227_?)del	DLL1, ERMARD	Deletion	not provided	GUncertain significance
Select item 2429374	NM_018341.3(ERMARD):c.277C>T (p.Arg93Ter)	ERMARD (R93*)	Single nucleotide variant (nonsense +1 more)	Periventricular nodular heterotopia 6	GLikely pathogenic
Select item 2422115	NM_018341.3(ERMARD):c.1203C>T (p.Phe401=)	ERMARD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2323144	NM_018341.3(ERMARD):c.2030T>G (p.Leu677Arg)	ERMARD (L541R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296122	NM_018341.3(ERMARD):c.1013A>G (p.Asp338Gly)	ERMARD (D202G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294883	NM_018341.3(ERMARD):c.1741A>G (p.Ile581Val)	ERMARD (I455V +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2292600	NM_018341.3(ERMARD):c.388A>G (p.Thr130Ala)	ERMARD (T4A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250013	NM_018341.3(ERMARD):c.782T>C (p.Met261Thr)	ERMARD (M261T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2247613	NM_018341.3(ERMARD):c.484G>A (p.Ala162Thr)	ERMARD (A162T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235582	NM_018341.3(ERMARD):c.1274G>T (p.Gly425Val)	ERMARD (G299V +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2234158	NM_018341.3(ERMARD):c.1705C>T (p.Arg569Cys)	ERMARD (R433C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209627	NM_018341.3(ERMARD):c.89A>G (p.Glu30Gly)	ERMARD (E30G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2176902	NM_018341.3(ERMARD):c.202G>A (p.Val68Met)	ERMARD (V68M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2171494	NM_018341.3(ERMARD):c.1697T>A (p.Leu566Gln)	ERMARD (L430Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2170516	NM_018341.3(ERMARD):c.1908C>T (p.Tyr636=)	ERMARD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2166561	NM_018341.3(ERMARD):c.314A>G (p.Glu105Gly)	ERMARD (E105G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2151136	NM_018341.3(ERMARD):c.1794G>A (p.Glu598=)	ERMARD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2148818	NM_018341.3(ERMARD):c.1538G>A (p.Arg513His)	ERMARD (R377H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2139149	NM_018341.3(ERMARD):c.743A>G (p.Asp248Gly)	ERMARD (D122G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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