LOC126806538[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	ACKR3, AGAP1 +393 more	Copy number loss	See cases	GPathogenic
Select item 3314159	NM_001167608.3(RHBDD1):c.881C>A (p.Pro294His)	COL4A4, LOC126806538 +1 more (P294H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769592	NM_001167608.3(RHBDD1):c.897C>T (p.Leu299=)	COL4A4, LOC126806538 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2251947	NM_001167608.3(RHBDD1):c.910A>G (p.Met304Val)	COL4A4, LOC126806538 +1 more (M304V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance