Related gene-specific medical variations for Gene (Select 23186) - ClinVar

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Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3009238	NM_015156.4(RCOR1):c.175_192del (p.Ala59_Ala64del)	LOC130056530, RCOR1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2969755	NM_015156.4(RCOR1):c.1190-13C>T	LOC126862064, RCOR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2888896	NM_015156.4(RCOR1):c.716C>T (p.Thr239Met)	LOC126862063, RCOR1 (T239M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2860946	NM_015156.4(RCOR1):c.1414G>A (p.Asp472Asn)	LOC126862064, RCOR1 (D472N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2858387	NM_015156.4(RCOR1):c.361+10_361+11del	LOC130056530, RCOR1	Deletion (intron variant)	not provided	GBenign
Select item 2817707	NM_015156.4(RCOR1):c.283T>A (p.Ser95Thr)	LOC130056530, RCOR1 (S95T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2715840	NM_015156.4(RCOR1):c.153CTC[1] (p.Ser53del)	LOC130056530, RCOR1 (S53del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2644584	NM_015156.4(RCOR1):c.742C>T (p.Arg248Cys)	LOC126862063, RCOR1 (R248C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2312227	NM_015156.4(RCOR1):c.133G>A (p.Ala45Thr)	LOC130056530, RCOR1 (A45T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2171992	NM_015156.4(RCOR1):c.192C>T (p.Ala64=)	LOC130056530, RCOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2093909	NM_015156.4(RCOR1):c.751C>T (p.Arg251Trp)	LOC126862063, RCOR1 (R251W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2082085	NM_015156.4(RCOR1):c.717G>A (p.Thr239=)	LOC126862063, RCOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2003291	NM_015156.4(RCOR1):c.204C>T (p.Gly68=)	LOC130056530, RCOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1622744	NM_015156.4(RCOR1):c.1404C>T (p.Pro468=)	LOC126862064, RCOR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1621977	NM_015156.4(RCOR1):c.1349A>G (p.Asn450Ser)	LOC126862064, RCOR1 (N450S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1578452	NM_015156.4(RCOR1):c.138C>T (p.Ala46=)	LOC130056530, RCOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1545799	NM_015156.4(RCOR1):c.1190-9C>T	LOC126862064, RCOR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1426848	NM_015156.4(RCOR1):c.154_192del (p.Ser52_Ala64del)	LOC130056530, RCOR1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1364436	NM_015156.4(RCOR1):c.197A>G (p.Asn66Ser)	LOC130056530, RCOR1 (N66S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 548645	NM_015156.4(RCOR1):c.446-3C>T	RCOR1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely pathogenic

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Links from Gene

Items: 20