"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 256152	NM_000435.3(NOTCH3):c.6668C>T (p.Ala2223Val)	NOTCH3 (A2223V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 256151	NM_000435.3(NOTCH3):c.6438G>A (p.Ala2146=)	NOTCH3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 256145	NM_000435.3(NOTCH3):c.5816-8T>C	NOTCH3	Single nucleotide variant (intron variant)	Lateral meningocele syndrome +3 more	GBenign
Select item 256141	NM_000435.3(NOTCH3):c.5363-17C>T	NOTCH3	Single nucleotide variant (intron variant)	Lateral meningocele syndrome +3 more	GBenign
Select item 256140	NM_000435.3(NOTCH3):c.5362+3T>C	NOTCH3	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1206026	NM_000435.3(NOTCH3):c.4762A>C (p.Asn1588His)	NOTCH3 (N1588H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 256138	NM_000435.3(NOTCH3):c.4563A>G (p.Pro1521=)	NOTCH3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 790468	NM_000435.3(NOTCH3):c.4560G>T (p.Pro1520=)	NOTCH3	Single nucleotide variant (synonymous variant)	NOTCH3-related disorder +4 more	GLikely benign
Select item 328390	NM_000435.3(NOTCH3):c.4071C>T (p.Pro1357=)	NOTCH3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1209872	NM_000435.3(NOTCH3):c.3719-7C>T	NOTCH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 216972	NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys)	NOTCH3 (R1231C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 256132	NM_000435.3(NOTCH3):c.3399C>A (p.His1133Gln)	NOTCH3 (H1133Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 702452	NM_000435.3(NOTCH3):c.2932A>C (p.Ser978Arg)	NOTCH3 (S978R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 256130	NM_000435.3(NOTCH3):c.2742A>G (p.Pro914=)	NOTCH3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 256129	NM_000435.3(NOTCH3):c.2538C>T (p.Cys846=)	NOTCH3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 256128	NM_000435.3(NOTCH3):c.2411-4C>G	NOTCH3	Single nucleotide variant (intron variant)	Myofibromatosis, infantile, 2 +4 more	GBenign/Likely benign
Select item 256126	NM_000435.3(NOTCH3):c.2202C>T (p.Ala734=)	NOTCH3	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 697974	NM_000435.3(NOTCH3):c.1931T>A (p.Val644Asp)	NOTCH3 (V644D)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 256122	NM_000435.3(NOTCH3):c.1725G>A (p.Thr575=)	NOTCH3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 256118	NM_000435.3(NOTCH3):c.1192+15A>G	NOTCH3	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 256117	NM_000435.3(NOTCH3):c.1140T>C (p.Pro380=)	NOTCH3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 256148	NM_000435.3(NOTCH3):c.606A>G (p.Ala202=)	NOTCH3	Single nucleotide variant (synonymous variant)	Lateral meningocele syndrome +3 more	GBenign
Select item 447847	NM_000435.3(NOTCH3):c.432C>T (p.Cys144=)	NOTCH3	Single nucleotide variant (synonymous variant)	Stroke disorder +1 more	GBenign/Likely benign
Select item 256131	NM_000435.3(NOTCH3):c.303C>T (p.Thr101=)	NOTCH3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign

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Items: 24