"GeneDx"[submitter] AND "RORA-AS1"[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57882	GRCh38/hg38 15q21.3-22.2(chr15:57567950-63019415)x1	ADAM10, ALDH1A2 +163 more	Copy number loss	See cases	GPathogenic
Select item 1804298	NM_134261.3(RORA):c.1571_*29del (p.Ter524SerextTer?)	RORA, RORA-AS1	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3365469	NM_134261.3(RORA):c.1549C>G (p.Pro517Ala)	RORA, RORA-AS1 (P462A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 559568	NM_134261.3(RORA):c.1498C>T (p.Arg500Ter)	RORA, RORA-AS1 (R500* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3377945	NM_134261.3(RORA):c.1486C>G (p.Pro496Ala)	RORA, RORA-AS1 (P441A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 982776	NM_134261.3(RORA):c.1447C>T (p.Arg483Ter)	RORA, RORA-AS1 (R428* +3 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia +1 more	GConflicting classifications of pathogenicity
Select item 1310499	NM_134261.3(RORA):c.1397T>C (p.Ile466Thr)	RORA, RORA-AS1 (I411T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 549842	NM_134261.3(RORA):c.1385G>A (p.Arg462Gln)	RORA, RORA-AS1 (R462Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1691814	NM_134261.3(RORA):c.1384C>T (p.Arg462Ter)	RORA, RORA-AS1 (R407* +3 more)	Single nucleotide variant	not provided	GPathogenic
Select item 2442497	NM_134261.3(RORA):c.1382A>G (p.His461Arg)	RORA, RORA-AS1 (H406R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581972	NM_134261.3(RORA):c.1087G>C (p.Val363Leu)	RORA, RORA-AS1 (V308L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310282	NM_134261.3(RORA):c.1072G>A (p.Ala358Thr)	RORA, RORA-AS1 (A303T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810617	NM_134261.3(RORA):c.1022T>C (p.Ile341Thr)	RORA, RORA-AS1 (I286T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368426	NM_134261.3(RORA):c.1018C>T (p.Arg340Cys)	RORA, RORA-AS1 (R285C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342822	NM_134261.3(RORA):c.1013C>A (p.Ala338Asp)	RORA, RORA-AS1 (A283D +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 985819	NM_134261.3(RORA):c.983C>G (p.Thr328Arg)	RORA, RORA-AS1 (T273R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 549841	NM_134261.3(RORA):c.804_805del (p.Ser269fs)	RORA-AS1, RORA (S269fs +3 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2428808	NM_134261.3(RORA):c.788A>G (p.Glu263Gly)	RORA, RORA-AS1 (E208G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302482	NM_134261.3(RORA):c.773C>G (p.Ser258Trp)	RORA, RORA-AS1 (S203W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575856	NM_134261.3(RORA):c.631G>A (p.Gly211Arg)	RORA-AS1, RORA (G156R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3372839	NM_134261.3(RORA):c.573C>G (p.Asn191Lys)	RORA, RORA-AS1 (N136K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663181	NM_134261.3(RORA):c.506A>T (p.Gln169Leu)	RORA, RORA-AS1 (Q114L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1273579	NM_134261.3(RORA):c.504G>A (p.Gln168=)	RORA, RORA-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2430758	NM_134261.3(RORA):c.451A>C (p.Lys151Gln)	RORA-AS1, RORA (K151Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505975	NM_134261.3(RORA):c.443T>C (p.Met148Thr)	RORA, RORA-AS1 (M148T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1300412	NM_134261.3(RORA):c.439C>T (p.Arg147Ter)	RORA, RORA-AS1 (R147* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3375957	NM_134261.3(RORA):c.437G>A (p.Gly146Asp)	RORA, RORA-AS1 (G146D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367380	NM_134261.3(RORA):c.424+4A>C	RORA, RORA-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3253371	NM_134261.3(RORA):c.419G>A (p.Arg140Gln)	RORA, RORA-AS1 (R140Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377903	NM_134261.3(RORA):c.416C>G (p.Ser139Cys)	RORA, RORA-AS1 (S139C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365271	NM_134261.3(RORA):c.370C>A (p.Arg124Ser)	RORA, RORA-AS1 (R124S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1254934	NM_134261.3(RORA):c.351_354del (p.Asp118fs)	RORA, RORA-AS1 (D118fs +3 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 3373026	NM_134261.3(RORA):c.251A>C (p.His84Pro)	RORA, RORA-AS1 (H109P +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1304790	NM_134261.3(RORA):c.230G>T (p.Gly77Val)	RORA, RORA-AS1 (G102V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375530	NM_134261.3(RORA):c.196+51420G>A	RORA, RORA-AS1	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance

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Items: 35