LOC130055732[gene] - ClinVar - NCBI

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Items: 11

	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 57781	GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1	ACTR10, AKAP5 +344 more	Copy number loss	See cases	GPathogenic
Select item 149300	GRCh38/hg38 14q23.1-23.2(chr14:57653413-64093528)x1	ACTR10, ARID4A +202 more	Copy number loss	See cases	GPathogenic
Select item 57782	GRCh38/hg38 14q23.1(chr14:58146022-61273619)x1	ACTR10, ARID4A +113 more	Copy number loss	See cases	GPathogenic
Select item 155360	GRCh38/hg38 14q23.1(chr14:58288658-58509423)x1	ARID4A, KIAA0586 +12 more	Copy number loss	See cases	GUncertain significance
Select item 2279652	NM_207377.3(TOMM20L):c.25C>G (p.Arg9Gly)	LOC130055732, TOMM20L (R9G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3181128	NM_207377.3(TOMM20L):c.66C>G (p.Phe22Leu)	LOC130055732, TOMM20L (F22L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328015	NM_207377.3(TOMM20L):c.88A>G (p.Asn30Asp)	LOC130055732, TOMM20L (N30D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2262989	NM_207377.3(TOMM20L):c.100C>G (p.Arg34Gly)	LOC130055732, TOMM20L (R34G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367584	NM_207377.3(TOMM20L):c.104G>A (p.Gly35Glu)	LOC130055732, TOMM20L (G35E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance