LOC126806028[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 146329	GRCh38/hg38 1q41(chr1:222676842-223882311)x1	AIDA, BROX +35 more	Copy number loss	See cases	GLikely pathogenic
Select item 147449	GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1	ACBD3, ACBD3-AS1 +287 more	Copy number loss	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146036	GRCh38/hg38 1q41-42.12(chr1:223749425-224604271)x1	CAPN2, CNIH3 +40 more	Copy number loss	See cases	GUncertain significance
Select item 2398157	NM_001748.5(CAPN2):c.1001A>T (p.His334Leu)	CAPN2, LOC126806028 (H256L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263214	NM_001748.5(CAPN2):c.1004A>G (p.Tyr335Cys)	CAPN2, LOC126806028 (Y257C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717138	NM_001748.5(CAPN2):c.1044C>T (p.Leu348=)	CAPN2, LOC126806028	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2258278	NM_001748.5(CAPN2):c.1083G>A (p.Met361Ile)	CAPN2, LOC126806028 (M283I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590419	NM_001748.5(CAPN2):c.1100G>A (p.Arg367Gln)	CAPN2, LOC126806028 (R367Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487198	NM_001748.5(CAPN2):c.1114G>A (p.Gly372Arg)	CAPN2, LOC126806028 (G294R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance