"Ambry Genetics"[submitter] AND "LOC126863207"[gene] - ClinVar - NCBI

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

Search results

Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 92878	NM_000381.4(MID1):c.2000C>T (p.Pro667Leu)	LOC126863207, MID1 (P667L +1 more)	Single nucleotide variant (missense variant)	X-linked Opitz G/BBB syndrome +3 more	GConflicting classifications of pathogenicity
Select item 92877	NM_000381.4(MID1):c.1988C>T (p.Thr663Ile)	LOC126863207, MID1 (T663I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 755922	NM_000381.4(MID1):c.1968C>T (p.Ile656=)	LOC126863207, MID1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign
Select item 3294808	NM_000381.4(MID1):c.1891G>A (p.Val631Ile)	LOC126863207, MID1 (V593I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2265226	NM_000381.4(MID1):c.1858G>T (p.Ala620Ser)	LOC126863207, MID1 (A620S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1781028	NM_000381.4(MID1):c.1835A>G (p.Asn612Ser)	LOC126863207, MID1 (N574S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2203547	NM_000381.4(MID1):c.1793C>T (p.Ala598Val)	LOC126863207, MID1 (A598V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 497698	NM_000381.4(MID1):c.1698A>G (p.Glu566=)	LOC126863207, MID1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign