LOC126861215[gene] - ClinVar - NCBI

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

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154690	GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3	APLNR, BTBD18 +147 more	Copy number gain	See cases	GPathogenic
Select item 58162	GRCh38/hg38 11q12.1(chr11:57372226-57936167)x3	LOC130005708, LOC130005709 +48 more	Copy number gain	See cases	GUncertain significance
Select item 2266742	NM_001317078.4(MED19):c.568C>A (p.Pro190Thr)	LOC126861215, MED19 (P190T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350852	NM_001317078.4(MED19):c.548G>A (p.Arg183His)	LOC126861215, MED19 (R183H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481088	NM_001317078.4(MED19):c.522G>T (p.Lys174Asn)	LOC126861215, MED19 (K174N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125003	NM_001317078.4(MED19):c.479C>T (p.Pro160Leu)	LOC126861215, MED19 (P160L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210064	NM_001317078.4(MED19):c.472C>T (p.Pro158Ser)	LOC126861215, MED19 (P158S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460411	NM_001317078.4(MED19):c.385T>G (p.Ser129Ala)	LOC126861215, MED19 (S129A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125001	NM_001317078.4(MED19):c.368A>G (p.Asp123Gly)	LOC126861215, MED19 (D123G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance