"GeneDx"[submitter] AND "LOC126860130"[gene] - ClinVar - NCBI

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

Search results

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60283	GRCh38/hg38 7q22.1-22.3(chr7:102808199-105701108)x1	ARMC10, ATXN7L1 +86 more	Copy number loss	See cases	GPathogenic
Select item 514562	NM_005045.4(RELN):c.9747C>T (p.Cys3249=)	LOC126860130, RELN +1 more	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 130146	NM_005045.4(RELN):c.9730G>A (p.Gly3244Ser)	LOC126860130, RELN +1 more (G3244S)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +4 more	GBenign/Likely benign
Select item 130145	NM_005045.4(RELN):c.9714C>T (p.His3238=)	SLC26A5-AS1, LOC126860130 +1 more	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +2 more	GBenign
Select item 212050	NM_005045.4(RELN):c.9708C>T (p.Ser3236=)	LOC126860130, RELN +1 more	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1295479	NM_005045.4(RELN):c.9606-57T>C	LOC126860130, RELN +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 668966	NM_005045.4(RELN):c.9605+310T>C	LOC126860130, RELN +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190607	NM_005045.4(RELN):c.9605+202G>A	LOC126860130, RELN +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188197	NM_005045.4(RELN):c.9605+64G>C	LOC126860130, RELN +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 452441	NM_005045.4(RELN):c.9560G>A (p.Ser3187Asn)	LOC126860130, RELN +1 more (S3187N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364941	NM_005045.4(RELN):c.9550A>G (p.Asn3184Asp)	LOC126860130, RELN +1 more (N3184D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 358381	NM_005045.4(RELN):c.9524A>C (p.His3175Pro)	LOC126860130, RELN +1 more (H3175P)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +4 more	GBenign/Likely benign
Select item 452260	NM_005045.4(RELN):c.9500T>C (p.Ile3167Thr)	LOC126860130, RELN +1 more (I3167T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1397456	NM_005045.4(RELN):c.9447G>A (p.Ser3149=)	LOC126860130, RELN +1 more	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +2 more	GConflicting classifications of pathogenicity