LOC130055744[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 12

	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 2312848	NM_022571.6(GPR135):c.238G>A (p.Glu80Lys)	GPR135, LOC130055744 (E80K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101406	NM_022571.6(GPR135):c.224C>T (p.Ser75Phe)	GPR135, LOC130055744 (S75F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244666	NM_022571.6(GPR135):c.162C>A (p.Asn54Lys)	GPR135, LOC130055744 (N54K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377721	NM_022571.6(GPR135):c.152C>A (p.Ala51Glu)	GPR135, LOC130055744 (A51E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555673	NM_022571.6(GPR135):c.134G>C (p.Ser45Thr)	GPR135, LOC130055744 (S45T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288562	NM_022571.6(GPR135):c.76G>A (p.Ala26Thr)	GPR135, LOC130055744 (A26T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389267	NM_022571.6(GPR135):c.62C>T (p.Ser21Phe)	GPR135, LOC130055744 (S21F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance