"GeneDx"[submitter] AND "LOC126860131"[gene] - ClinVar - NCBI

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Items: 10

	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 1205426	NM_005045.4(RELN):c.1441+311G>A	LOC126860131, RELN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207254	NM_005045.4(RELN):c.1441+155C>T	LOC126860131, RELN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 944838	NM_005045.4(RELN):c.1435G>T (p.Val479Leu)	LOC126860131, RELN (V479L)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +3 more	GUncertain significance
Select item 542564	NM_005045.4(RELN):c.1379A>C (p.Lys460Thr)	LOC126860131, RELN (K460T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 130114	NM_005045.4(RELN):c.1377G>A (p.Arg459=)	LOC126860131, RELN	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 542574	NM_005045.4(RELN):c.1336G>C (p.Glu446Gln)	LOC126860131, RELN (E446Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 95210	NM_005045.4(RELN):c.1290-3dup	LOC126860131, RELN	Duplication (intron variant)	Familial temporal lobe epilepsy 7 +3 more	GBenign/Likely benign
Select item 1298060	NM_005045.4(RELN):c.1290-143G>A	LOC126860131, RELN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204441	NM_005045.4(RELN):c.1290-162T>C	LOC126860131, RELN	Single nucleotide variant (intron variant)	not provided	GLikely benign