LOC111828512[gene] - ClinVar - NCBI

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

Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 58844	GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1	ABCB6, ACSL3 +195 more	Copy number loss	See cases	GPathogenic
Select item 146029	GRCh38/hg38 2q36.1-36.2(chr2:221663502-224426183)x1	ACSL3, ACSL3-AS1 +75 more	Copy number loss	See cases	GPathogenic
Select item 156823	Single allele	LOC111828512, MOGAT1	Deletion	Gestational diabetes mellitus uncontrolled	Gnot provided
Select item 3191765	NM_058165.3(MOGAT1):c.874C>T (p.Arg292Cys)	LOC111828512, MOGAT1 (R292C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance