ERMARD[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	ACAT2, AFDN +571 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	ACAT2, AFDN +563 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	LOC129997707, LOC129997708 +548 more	Copy number loss	See cases	GPathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	ACAT2, AFDN +539 more	Copy number loss	See cases	GPathogenic
Select item 58455	GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1	ACAT2, AFDN +339 more	Copy number loss	See cases	GPathogenic
Select item 58456	GRCh38/hg38 6q25.3-27(chr6:159825913-170612001)x1	C6orf118, C6orf120 +321 more	Copy number loss	See cases	GPathogenic
Select item 150838	GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1	AFDN, AFDN-DT +322 more	Copy number loss	See cases	GPathogenic
Select item 58458	GRCh38/hg38 6q25.3-27(chr6:160359686-170608818)x1	AFDN, AFDN-DT +299 more	Copy number loss	See cases	GPathogenic
Select item 144539	GRCh38/hg38 6q25.3-27(chr6:160484810-170612011)x1	AFDN, AFDN-DT +297 more	Copy number loss	See cases	GPathogenic
Select item 155552	GRCh38/hg38 6q26-27(chr6:160899898-170610394)x1	AFDN, AFDN-DT +277 more	Copy number loss	See cases	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 58468	GRCh38/hg38 6q26-27(chr6:162042846-170608818)x1	AFDN, AFDN-DT +247 more	Copy number loss	See cases	GPathogenic
Select item 58469	GRCh38/hg38 6q26-27(chr6:162789915-170602152)x1	AFDN, AFDN-DT +243 more	Copy number loss	See cases	GPathogenic
Select item 58470	GRCh38/hg38 6q26-27(chr6:163420224-170608818)x1	AFDN, AFDN-DT +224 more	Copy number loss	See cases	GPathogenic
Select item 146089	GRCh38/hg38 6q27(chr6:164790270-170612001)x1	AFDN, AFDN-DT +203 more	Copy number loss	See cases	GPathogenic
Select item 58472	GRCh38/hg38 6q27(chr6:166370159-170602152)x1	AFDN, AFDN-DT +168 more	Copy number loss	See cases	GPathogenic
Select item 148449	GRCh38/hg38 6q27(chr6:167145050-170714507)x1	AFDN, AFDN-DT +112 more	Copy number loss	See cases	GPathogenic
Select item 155515	GRCh38/hg38 6q27(chr6:167760366-170610394)x1	AFDN, AFDN-DT +87 more	Copy number loss	See cases	GPathogenic
Select item 152206	GRCh38/hg38 6q27(chr6:167896913-170714507)x1	AFDN, C6orf120 +78 more	Copy number loss	See cases	GPathogenic
Select item 58474	GRCh38/hg38 6q27(chr6:167924952-170602152)x1	PHF10, PSMB1 +77 more	Copy number loss	See cases	GPathogenic
Select item 150709	GRCh38/hg38 6q27(chr6:167963618-170597678)x1	AFDN, C6orf120 +77 more	Copy number loss	See cases	GPathogenic
Select item 58475	GRCh38/hg38 6q27(chr6:168180473-170583214)x1	C6orf120, DACT2 +68 more	Copy number loss	See cases	GPathogenic
Select item 57303	GRCh38/hg38 6q27(chr6:168524169-170612001)x1	C6orf120, DLL1 +60 more	Copy number loss	See cases	GPathogenic
Select item 151758	GRCh38/hg38 6q27(chr6:168581259-170610394)x1	C6orf120, DLL1 +60 more	Copy number loss	See cases	GPathogenic
Select item 148570	GRCh38/hg38 6q27(chr6:168802993-170714507)x1	C6orf120, DLL1 +57 more	Copy number loss	See cases	GLikely pathogenic
Select item 148678	GRCh38/hg38 6q27(chr6:168881467-170602152)x1	C6orf120, DLL1 +56 more	Copy number loss	See cases	GPathogenic
Select item 58487	GRCh38/hg38 6q27(chr6:169021176-170602152)x1	C6orf120, DLL1 +54 more	Copy number loss	See cases	GPathogenic
Select item 57021	GRCh38/hg38 6q27(chr6:169441378-170612001)x1	C6orf120, DLL1 +40 more	Copy number loss	See cases	GPathogenic
Select item 57508	GRCh38/hg38 6q27(chr6:169641704-170612001)x1	C6orf120, DLL1 +37 more	Copy number loss	See cases	GPathogenic
Select item 147670	GRCh38/hg38 6q27(chr6:169688809-170583214)x1	C6orf120, DLL1 +34 more	Copy number loss	See cases	GPathogenic
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 1316319	NM_174910.3(DYNLT2):c.-11A>G	DYNLT2, ERMARD	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1320598	NC_000006.12:g.169751603G>C	ERMARD	Single nucleotide variant	not provided	GLikely benign
Select item 386762	NM_018341.3(ERMARD):c.-29A>T	ERMARD	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 384877	NM_018341.3(ERMARD):c.-13G>C	ERMARD	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 507371	NM_018341.3(ERMARD):c.5A>T (p.Glu2Val)	ERMARD (E2V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 380783	NM_018341.3(ERMARD):c.6+7C>T	ERMARD	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1900893	NM_018341.3(ERMARD):c.6+10G>T	ERMARD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959187	NM_018341.3(ERMARD):c.6+12G>A	ERMARD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2988160	NM_018341.3(ERMARD):c.6+15G>C	ERMARD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1991451	NM_018341.3(ERMARD):c.6+18C>T	ERMARD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 509163	NM_018341.3(ERMARD):c.6+19C>T	ERMARD	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1640015	NM_018341.3(ERMARD):c.6+20C>T	ERMARD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242689	NM_018341.3(ERMARD):c.7-258A>C	ERMARD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1904125	NM_018341.3(ERMARD):c.7-23TTTTA[2]	ERMARD	Microsatellite (intron variant)	not provided +1 more	GLikely benign
Select item 1645025	NM_018341.3(ERMARD):c.7-19_7-17del	ERMARD	Deletion (intron variant)	not provided	GLikely benign
Select item 384836	NM_018341.3(ERMARD):c.9A>C (p.Val3=)	ERMARD	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1711651	NM_018341.3(ERMARD):c.33_34del (p.Cys12fs)	ERMARD (C12fs)	Deletion (frameshift variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1418773	NM_018341.3(ERMARD):c.68A>G (p.Asn23Ser)	ERMARD (N23S)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 2132242	NM_018341.3(ERMARD):c.100A>G (p.Ile34Val)	ERMARD (I34V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2058713	NM_018341.3(ERMARD):c.103A>C (p.Asn35His)	ERMARD (N35H)	Single nucleotide variant (missense variant +1 more)	not provided	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 1346404	NM_018341.3(ERMARD):c.138G>C (p.Trp46Cys)	ERMARD (W46C)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 388833	NM_018341.3(ERMARD):c.171G>C (p.Glu57Asp)	ERMARD (E57D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1990246	NM_018341.3(ERMARD):c.175G>A (p.Glu59Lys)	ERMARD (E59K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1326166	NM_018341.3(ERMARD):c.176-141A>G	ERMARD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1264744	NM_018341.3(ERMARD):c.176-48A>T	ERMARD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1338526	NM_018341.3(ERMARD):c.189_199del (p.Asp63fs)	ERMARD (D63fs)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 382931	NM_018341.3(ERMARD):c.192C>T (p.Tyr64=)	ERMARD	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
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 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 435091	NM_018341.3(ERMARD):c.241C>T (p.His81Tyr)	ERMARD (H81Y)	Single nucleotide variant (missense variant +1 more)	ERMARD-related disorder +2 more	GBenign/Likely benign
Select item 386574	NM_018341.3(ERMARD):c.257C>A (p.Thr86Asn)	ERMARD (T86N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1494686	NM_018341.3(ERMARD):c.259A>G (p.Lys87Glu)	ERMARD (K87E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 384878	NM_018341.3(ERMARD):c.265C>A (p.Gln89Lys)	ERMARD (Q89K)	Single nucleotide variant (missense variant +1 more)	ERMARD-related disorder +2 more	GBenign/Likely benign
Select item 380810	NM_018341.3(ERMARD):c.274A>G (p.Ile92Val)	ERMARD (I92V)	Single nucleotide variant (missense variant +1 more)	ERMARD-related disorder +2 more	GBenign
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 747185	NM_018341.3(ERMARD):c.278G>A (p.Arg93Gln)	ERMARD (R93Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1578229	NM_018341.3(ERMARD):c.309T>C (p.Phe103=)	ERMARD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 977896	NM_018341.3(ERMARD):c.313G>C (p.Glu105Gln)	ERMARD (E105Q)	Single nucleotide variant (missense variant +1 more)	Periventricular nodular heterotopia 6	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 1228931	NM_018341.3(ERMARD):c.315+116G>A	ERMARD	Single nucleotide variant (intron variant)	not provided	GBenign
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 747611	NM_018341.3(ERMARD):c.351A>G (p.Leu117=)	ERMARD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1377667	NM_018341.3(ERMARD):c.353A>G (p.Gln118Arg)	ERMARD (Q118R)	Single nucleotide variant (missense variant +1 more)	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 515406	NM_018341.3(ERMARD):c.364A>G (p.Ile122Val)	ERMARD (I122V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 792165	NM_018341.3(ERMARD):c.378A>G (p.Leu126=)	ERMARD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2089152	NM_018341.3(ERMARD):c.380T>C (p.Met127Thr)	ERMARD (M127T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2026216	NM_018341.3(ERMARD):c.384A>G (p.Lys128=)	ERMARD	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 390449	NM_018341.3(ERMARD):c.385C>T (p.Leu129=)	ERMARD	Single nucleotide variant (synonymous variant)	not specified +1 more	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 765662	NM_018341.3(ERMARD):c.393G>A (p.Ser131=)	ERMARD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2800053	NM_018341.3(ERMARD):c.417+1G>A	ERMARD	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1239962	NM_018341.3(ERMARD):c.418-132T>C	ERMARD	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 2139148	NM_018341.3(ERMARD):c.489A>G (p.Gln163=)	ERMARD	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 680094	NM_018341.3(ERMARD):c.507+75A>G	ERMARD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318309	NM_018341.3(ERMARD):c.508-241T>C	ERMARD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251624	NM_018341.3(ERMARD):c.508-196A>G	ERMARD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175488	NM_018341.3(ERMARD):c.508-41G>A	ERMARD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 512200	NM_018341.3(ERMARD):c.508-17A>C	ERMARD	Single nucleotide variant (intron variant)	not specified	GLikely benign

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