"GeneDx"[submitter] AND "LOC126860794"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	LOC130003068, LOC130003069 +392 more	Copy number gain	See cases	GPathogenic
Select item 59136	GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	ABCA2, AGPAT2 +371 more	Copy number loss	See cases	GPathogenic
Select item 59137	GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1	ABCA2, AGPAT2 +311 more	Copy number loss	See cases	GPathogenic
Select item 59139	GRCh38/hg38 9q34.3(chr9:136323542-136565950)x1	C9orf163, CARD9 +46 more	Copy number loss	See cases	GPathogenic
Select item 680690	NM_017617.5(NOTCH1):c.6180+284G>A	LOC126860794, NOTCH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678558	NM_017617.5(NOTCH1):c.6180+189C>T	LOC126860794, NOTCH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678115	NM_017617.5(NOTCH1):c.6180+176T>C	LOC126860794, NOTCH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187452	NM_017617.5(NOTCH1):c.6180+151C>T	LOC126860794, NOTCH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679457	NM_017617.5(NOTCH1):c.6180+126G>A	LOC126860794, NOTCH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287921	NM_017617.5(NOTCH1):c.6180+44T>C	LOC126860794, NOTCH1	Single nucleotide variant (intron variant)	Aortic valve disease 1 +2 more	GBenign
Select item 514089	NM_017617.5(NOTCH1):c.6180+9G>A	LOC126860794, NOTCH1	Single nucleotide variant (intron variant)	NOTCH1-related condition +3 more	GLikely benign
Select item 513894	NM_017617.5(NOTCH1):c.6180+9G>T	LOC126860794, NOTCH1	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 5 +2 more	GLikely benign
Select item 511861	NM_017617.5(NOTCH1):c.6180+8C>T	LOC126860794, NOTCH1	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 5 +1 more	GLikely benign
Select item 372952	NM_017617.5(NOTCH1):c.6173ACA[1] (p.Asn2059del)	LOC126860794, NOTCH1 (N2059del)	Microsatellite (inframe_deletion)	not provided	GLikely pathogenic
Select item 2579358	NM_017617.5(NOTCH1):c.6152G>A (p.Gly2051Glu)	LOC126860794, NOTCH1 (G2051E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442752	NM_017617.5(NOTCH1):c.6151G>A (p.Gly2051Arg)	NOTCH1, LOC126860794 (G2051R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 510897	NM_017617.5(NOTCH1):c.6150C>T (p.Asn2050=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5 +2 more	GBenign/Likely benign
Select item 1314450	NM_017617.5(NOTCH1):c.6137T>C (p.Val2046Ala)	LOC126860794, NOTCH1 (V2046A)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +2 more	GUncertain significance
Select item 426315	NM_017617.5(NOTCH1):c.6131C>T (p.Ala2044Val)	LOC126860794, NOTCH1 (A2044V)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 263917	NM_017617.5(NOTCH1):c.6130G>A (p.Ala2044Thr)	LOC126860794, NOTCH1 (A2044T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 415421	NM_017617.5(NOTCH1):c.6120T>C (p.Asn2040=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Aortic valve disease 1 +3 more	GBenign/Likely benign
Select item 508330	NM_017617.5(NOTCH1):c.6111C>G (p.Ala2037=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 477957	NM_017617.5(NOTCH1):c.6108C>T (p.Ala2036=)	NOTCH1, LOC126860794	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 241158	NM_017617.5(NOTCH1):c.6105C>T (p.Ala2035=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5 +4 more	GBenign/Likely benign
Select item 507703	NM_017617.5(NOTCH1):c.6083-4G>A	LOC126860794, NOTCH1	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 5 +2 more	GBenign/Likely benign
Select item 415418	NM_017617.5(NOTCH1):c.6083-5C>T	LOC126860794, NOTCH1	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1150750	NM_017617.5(NOTCH1):c.6083-10T>G	LOC126860794, NOTCH1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 390637	NM_017617.5(NOTCH1):c.6083-15G>C	LOC126860794, NOTCH1	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 5 +1 more	GLikely benign
Select item 517796	NM_017617.5(NOTCH1):c.6082+18C>T	LOC126860794, NOTCH1	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 5 +2 more	GLikely benign
Select item 508258	NM_017617.5(NOTCH1):c.6082+10C>T	LOC126860794, NOTCH1	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 5 +4 more	GConflicting classifications of pathogenicity
Select item 509013	NM_017617.5(NOTCH1):c.6069C>T (p.Ala2023=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5 +3 more	GLikely benign
Select item 2573695	NM_017617.5(NOTCH1):c.6061G>T (p.Val2021Phe)	NOTCH1, LOC126860794 (V2021F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 561318	NM_017617.5(NOTCH1):c.6057C>T (p.Ala2019=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 504027	NM_017617.5(NOTCH1):c.6045del (p.Asn2016fs)	LOC126860794, NOTCH1 (N2016fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 426306	NM_017617.5(NOTCH1):c.6028A>T (p.Met2010Leu)	NOTCH1, LOC126860794 (M2010L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 241157	NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	NOTCH1-related condition +6 more	GBenign/Likely benign
Select item 450093	NM_017617.5(NOTCH1):c.5981A>G (p.Asp1994Gly)	LOC126860794, NOTCH1 (D1994G)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +2 more	GConflicting classifications of pathogenicity
Select item 264008	NM_017617.5(NOTCH1):c.5967T>C (p.Asp1989=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5 +3 more	GBenign/Likely benign

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Items: 38