"GeneDx"[submitter] AND "LOC130068449"[gene] - ClinVar - NCBI

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

Search results

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145980	GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1	HDAC8, HDX +410 more	Copy number loss	See cases	GPathogenic
Select item 145167	GRCh38/hg38 Xq11.1-21.1(chrX:62712219-78605009)x3	ABCB7, AMER1 +263 more	Copy number gain	See cases	GPathogenic
Select item 58641	GRCh38/hg38 Xq12-13.3(chrX:68382004-75243150)x2	ABCB7, ARR3 +161 more	Copy number gain	See cases	GPathogenic
Select item 58643	GRCh38/hg38 Xq13.3(chrX:75012979-75197052)x2	ABCB7, LOC130068449 +1 more	Copy number gain	See cases	GPathogenic
Select item 1188878	NM_001271696.3(ABCB7):c.168+69C>G	ABCB7, LOC130068449	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 213987	NM_001271696.3(ABCB7):c.121T>C (p.Trp41Arg)	LOC130068449, ABCB7 (W41R)	Single nucleotide variant (missense variant)	Sideroblastic Anemia and Ataxia +2 more	GBenign/Likely benign
Select item 385410	NM_001271696.3(ABCB7):c.111A>T (p.Ser37=)	ABCB7, LOC130068449	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 384253	NM_001271696.3(ABCB7):c.102T>C (p.Val34=)	ABCB7, LOC130068449	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1311902	NM_001271696.3(ABCB7):c.85C>T (p.Arg29Trp)	ABCB7, LOC130068449 (R29W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1229803	NC_000023.11:g.75156361G>C	ABCB7, LOC130068449	Single nucleotide variant	not provided	GBenign