C2750246[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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

Search results

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 166907	NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr)	CNTNAP2 (A25T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 205301	NM_014141.6(CNTNAP2):c.286A>G (p.Ser96Gly)	CNTNAP2 (S96G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 411995	NM_014141.6(CNTNAP2):c.338A>G (p.Tyr113Cys)	CNTNAP2 (Y113C)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +1 more	GUncertain significance
Select item 128808	NM_014141.6(CNTNAP2):c.485T>G (p.Val162Gly)	CNTNAP2 (V162G)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 205308	NM_014141.6(CNTNAP2):c.515T>C (p.Ile172Thr)	CNTNAP2 (I172T)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1179560	NM_014141.6(CNTNAP2):c.681C>A (p.His227Gln)	CNTNAP2 (H227Q)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +1 more	GUncertain significance
Select item 468437	NM_014141.6(CNTNAP2):c.755-3C>T	CNTNAP2	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 2440177	NM_014141.6(CNTNAP2):c.789A>G (p.Thr263=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 1058975	NM_014141.6(CNTNAP2):c.845A>G (p.Glu282Gly)	CNTNAP2 (E282G)	Single nucleotide variant (missense variant)	CNTNAP2-related disorder +1 more	GUncertain significance
Select item 205227	NM_014141.6(CNTNAP2):c.857G>A (p.Arg286Gln)	CNTNAP2 (R286Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2270057	NM_014141.6(CNTNAP2):c.1096T>C (p.Phe366Leu)	CNTNAP2 (F366L)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +1 more	GUncertain significance
Select item 2440179	NM_014141.6(CNTNAP2):c.1530C>A (p.His510Gln)	CNTNAP2 (H510Q)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 1419906	NM_014141.6(CNTNAP2):c.1633G>A (p.Ala545Thr)	CNTNAP2 (A545T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2440176	NM_014141.6(CNTNAP2):c.1898-278_1898-276del	CNTNAP2	Microsatellite (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 910285	NM_014141.6(CNTNAP2):c.2038G>A (p.Glu680Lys)	CNTNAP2 (E680K)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +1 more	GUncertain significance
Select item 194529	NM_014141.6(CNTNAP2):c.2369G>A (p.Arg790His)	CNTNAP2 (R790H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2065115	NM_014141.6(CNTNAP2):c.2456C>T (p.Thr819Ile)	CNTNAP2 (T819I)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 136819	NM_014141.6(CNTNAP2):c.2609T>C (p.Val870Ala)	CNTNAP2 (V870A)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 434807	NM_014141.6(CNTNAP2):c.2744G>A (p.Arg915His)	CNTNAP2 (R915H)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +1 more	GUncertain significance
Select item 1322100	NM_014141.6(CNTNAP2):c.2884G>T (p.Gly962Ter)	CNTNAP2, LOC126860216 (G962*)	Single nucleotide variant (nonsense)	Cortical dysplasia-focal epilepsy syndrome	GPathogenic
Select item 285115	NM_014141.6(CNTNAP2):c.3180G>A (p.Ala1060=)	CNTNAP2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1368534	NM_014141.6(CNTNAP2):c.3197A>G (p.Tyr1066Cys)	CNTNAP2 (Y1066C)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 15 +1 more	GUncertain significance
Select item 845872	NM_014141.6(CNTNAP2):c.3262C>T (p.Arg1088Ter)	CNTNAP2 (R1088*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 205284	NM_014141.6(CNTNAP2):c.3304G>A (p.Val1102Ile)	CNTNAP2 (V1102I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 379020	NM_014141.6(CNTNAP2):c.3476-7C>T	CNTNAP2	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2440178	NM_014141.6(CNTNAP2):c.3476-4T>C	CNTNAP2	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 937098	NM_014141.6(CNTNAP2):c.3679G>A (p.Ala1227Thr)	CNTNAP2 (A1227T)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +1 more	GUncertain significance
Select item 205292	NM_014141.6(CNTNAP2):c.3781T>G (p.Ser1261Ala)	CNTNAP2 (S1261A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 28