"GeneDx"[submitter] AND "LOC126861831"[gene] - ClinVar - NCBI

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

Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59924	GRCh38/hg38 13q32.3-34(chr13:100039860-114327173)x3	LOC132090158, LOC132090159 +395 more	Copy number gain	See cases	GPathogenic
Select item 58280	GRCh38/hg38 13q32.3-33.1(chr13:101049614-101636191)x3	ITGBL1, LOC121468006 +6 more	Copy number gain	See cases	GUncertain significance
Select item 1181415	NM_052867.4(NALCN):c.1266+262T>G	LOC126861831, NALCN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191409	NM_052867.4(NALCN):c.1266+192T>G	LOC126861831, NALCN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228477	NM_052867.4(NALCN):c.1266+177C>T	LOC126861831, NALCN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197973	NM_052867.4(NALCN):c.1263G>A (p.Ala421=)	LOC126861831, NALCN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1806579	NM_052867.4(NALCN):c.1216T>G (p.Tyr406Asp)	LOC126861831, NALCN (Y377D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1203078	NM_052867.4(NALCN):c.1197C>G (p.Ile399Met)	LOC126861831, NALCN (I370M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1312315	NM_052867.4(NALCN):c.1195A>G (p.Ile399Val)	LOC126861831, NALCN (I370V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311584	NM_052867.4(NALCN):c.1139T>C (p.Met380Thr)	LOC126861831, NALCN (M351T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1174461	NM_052867.4(NALCN):c.1138dup (p.Met380fs)	LOC126861831, NALCN (M351fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 697642	NM_052867.4(NALCN):c.1135-10G>A	LOC126861831, NALCN	Single nucleotide variant (intron variant)	Congenital contractures of the limbs and face, hypotonia, and developmental delay +2 more	GBenign/Likely benign
Select item 1273019	NM_052867.4(NALCN):c.1135-11C>T	LOC126861831, NALCN	Single nucleotide variant (intron variant)	not provided	GBenign