RCOR1[gene] and "single gene"[properties] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1944963	NM_015156.4(RCOR1):c.8C>A (p.Ala3Asp)	RCOR1 (A3D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1944368	NM_015156.4(RCOR1):c.35C>T (p.Ser12Leu)	RCOR1 (S12L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1643092	NM_015156.4(RCOR1):c.76_96del (p.Ser26_Ala32del)	RCOR1	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 2177079	NM_015156.4(RCOR1):c.70TCCGCC[1] (p.24SA[1])	RCOR1	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2853807	NM_015156.4(RCOR1):c.68C>T (p.Ala23Val)	RCOR1 (A23V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2721972	NM_015156.4(RCOR1):c.69C>T (p.Ala23=)	RCOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2420186	NM_015156.4(RCOR1):c.73GCCTCCGCCGCCGCC[3] (p.Ala34_Ser35insAlaSerAlaAlaAla)	RCOR1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1494061	NM_015156.4(RCOR1):c.73GCCTCCGCCGCCGCC[1] (p.25ASAAA[1])	RCOR1	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2073764	NM_015156.4(RCOR1):c.76T>G (p.Ser26Ala)	RCOR1 (S26A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1476816	NM_015156.4(RCOR1):c.79GCC[5] (p.Ala30dup)	RCOR1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1588256	NM_015156.4(RCOR1):c.93C>T (p.Ser31=)	RCOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2274411	NM_015156.4(RCOR1):c.107C>T (p.Ala36Val)	RCOR1 (A36V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152744	NM_015156.4(RCOR1):c.400G>T (p.Gly134Cys)	RCOR1 (G134C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1561232	NM_015156.4(RCOR1):c.432G>C (p.Leu144=)	RCOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 548645	NM_015156.4(RCOR1):c.446-3C>T	RCOR1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely pathogenic
Select item 2885317	NM_015156.4(RCOR1):c.462C>T (p.Ala154=)	RCOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 771907	NM_015156.4(RCOR1):c.498+9A>G	RCOR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1528766	NM_015156.4(RCOR1):c.567C>A (p.Thr189=)	RCOR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2112969	NM_015156.4(RCOR1):c.795A>G (p.Glu265=)	RCOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2059784	NM_015156.4(RCOR1):c.858+14dup	RCOR1	Duplication (intron variant)	not provided	GBenign
Select item 1905625	NM_015156.4(RCOR1):c.859-6A>T	RCOR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2865306	NM_015156.4(RCOR1):c.864C>T (p.Pro288=)	RCOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2055691	NM_015156.4(RCOR1):c.963A>G (p.Gln321=)	RCOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3152745	NM_015156.4(RCOR1):c.994A>G (p.Thr332Ala)	RCOR1 (T332A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2868193	NM_015156.4(RCOR1):c.1053+12C>A	RCOR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995815	NM_015156.4(RCOR1):c.1053+19T>G	RCOR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1620665	NM_015156.4(RCOR1):c.1065T>C (p.Ile355=)	RCOR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1957792	NM_015156.4(RCOR1):c.1189+17C>A	RCOR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899686	NM_015156.4(RCOR1):c.1420-15T>C	RCOR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3244098	NC_000014.8:g.(?_103148212)_(103192843_?)dup	RCOR1	Duplication	not provided	GUncertain significance

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Items: 30