LOC130056530[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	LOC130056359, LOC130056360 +663 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	LOC130056380, LOC130056381 +755 more	Copy number loss	See cases	GPathogenic
Select item 146074	GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	LOC130056535, LOC130056536 +671 more	Copy number gain	See cases	GPathogenic
Select item 57085	GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	LOC130056672, LOC130056673 +667 more	Copy number loss	See cases	GPathogenic
Select item 146615	GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	LOC130056604, LOC130056605 +654 more	Copy number gain	See cases	GPathogenic
Select item 144349	GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	ADSS1, AHNAK2 +632 more	Copy number loss	See cases	GPathogenic
Select item 146084	GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3	MIR493, MIR494 +530 more	Copy number gain	See cases	GPathogenic
Select item 57267	GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1	ADSS1, AHNAK2 +582 more	Copy number loss	See cases	GPathogenic
Select item 155595	GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1	LOC130056480, LOC130056481 +571 more	Copy number loss	See cases	GPathogenic
Select item 57413	GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1	IGHV1-46, IGHV1-58 +561 more	Copy number loss	See cases	GPathogenic
Select item 154386	GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1	MIR6765, MIR8071-1 +441 more	Copy number loss	See cases	GPathogenic
Select item 150835	GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1	ADSS1, AHNAK2 +416 more	Copy number loss	See cases	GPathogenic
Select item 57839	GRCh38/hg38 14q32.31-32.33(chr14:102210395-104449321)x1	LOC105378183, LOC112163684 +164 more	Copy number loss	See cases	GPathogenic
Select item 153602	GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1	ADSS1, AHNAK2 +397 more	Copy number loss	See cases	GPathogenic
Select item 2579167	GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1	LOC130056644, LOC130056645 +397 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2429110	NC_000014.9:g.102573453_103575949del	AMN, BAG5 +87 more	Deletion	Mitochondrial complex 4 deficiency, nuclear type 17	GPathogenic
Select item 57840	GRCh38/hg38 14q32.31-32.33(chr14:102584963-104898605)x1	ADSS1, AKT1 +177 more	Copy number loss	See cases	GPathogenic
Select item 2312227	NM_015156.4(RCOR1):c.133G>A (p.Ala45Thr)	LOC130056530, RCOR1 (A45T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1426848	NM_015156.4(RCOR1):c.154_192del (p.Ser52_Ala64del)	LOC130056530, RCOR1	Deletion (inframe_deletion)	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 3009238	NM_015156.4(RCOR1):c.175_192del (p.Ala59_Ala64del)	LOC130056530, RCOR1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3152743	NM_015156.4(RCOR1):c.181G>T (p.Ala61Ser)	LOC130056530, RCOR1 (A61S)	Single nucleotide variant (missense variant)	not specified	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 1364436	NM_015156.4(RCOR1):c.197A>G (p.Asn66Ser)	LOC130056530, RCOR1 (N66S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2817707	NM_015156.4(RCOR1):c.283T>A (p.Ser95Thr)	LOC130056530, RCOR1 (S95T)	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

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Items: 34