LOC130058534[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 545184	Single allele	BCAR4, CPPED1 +85 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 148522	GRCh38/hg38 16p13.13-13.11(chr16:11952467-15186199)x1	BFAR, CPPED1 +113 more	Copy number loss	See cases	GLikely pathogenic
Select item 58701	GRCh38/hg38 16p13.13-13.11(chr16:11967831-15162888)x1	BFAR, CPPED1 +110 more	Copy number loss	See cases	GPathogenic
Select item 149026	GRCh38/hg38 16p13.12(chr16:12641872-13439605)x1	CPPED1, LOC112296188 +14 more	Copy number loss	See cases	GLikely benign
Select item 2589534	NM_018340.3(CPPED1):c.67G>T (p.Ala23Ser)	CPPED1, LOC130058534 (A23S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2206291	NM_018340.3(CPPED1):c.59C>G (p.Ala20Gly)	CPPED1, LOC130058534 (A20G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269254	NM_018340.3(CPPED1):c.53T>C (p.Leu18Pro)	CPPED1, LOC130058534 (L18P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622290	NM_018340.3(CPPED1):c.48G>C (p.Arg16Ser)	CPPED1, LOC130058534 (R16S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364956	NM_018340.3(CPPED1):c.25G>C (p.Val9Leu)	CPPED1, LOC130058534 (V9L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391701	NM_018340.3(CPPED1):c.8C>T (p.Ala3Val)	CPPED1, LOC130058534 (A3V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance