"PreventionGenetics, part of Exact Sciences"[submitter] AND "CNTNAP5"[ - ClinVar

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

Search results

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2631676	NM_001367498.1(CNTNAP5):c.187+1G>A	CNTNAP5	Single nucleotide variant (splice donor variant)	CNTNAP5-related disorder	GUncertain significance
Select item 3043054	NM_001367498.1(CNTNAP5):c.279G>A (p.Thr93=)	CNTNAP5	Single nucleotide variant (synonymous variant)	CNTNAP5-related disorder	GLikely benign
Select item 710619	NM_001367498.1(CNTNAP5):c.291C>T (p.Tyr97=)	CNTNAP5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3049708	NM_001367498.1(CNTNAP5):c.345C>T (p.Arg115=)	CNTNAP5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3045076	NM_001367498.1(CNTNAP5):c.411C>T (p.Ser137=)	CNTNAP5	Single nucleotide variant (synonymous variant)	CNTNAP5-related disorder	GBenign
Select item 3039860	NM_001367498.1(CNTNAP5):c.618C>T (p.Ser206=)	CNTNAP5	Single nucleotide variant (synonymous variant)	CNTNAP5-related disorder	GLikely benign
Select item 778821	NM_001367498.1(CNTNAP5):c.752T>C (p.Leu251Pro)	CNTNAP5 (L251P)	Single nucleotide variant (missense variant)	CNTNAP5-related disorder +1 more	GLikely benign
Select item 789966	NM_001367498.1(CNTNAP5):c.1328-7C>T	CNTNAP5	Single nucleotide variant (intron variant)	CNTNAP5-related disorder +1 more	GBenign
Select item 3034427	NM_001367498.1(CNTNAP5):c.1332C>T (p.Ser444=)	CNTNAP5	Single nucleotide variant (synonymous variant)	CNTNAP5-related disorder	GLikely benign
Select item 3056463	NM_001367498.1(CNTNAP5):c.1358C>T (p.Ser453Leu)	CNTNAP5 (S452L +1 more)	Single nucleotide variant (missense variant)	CNTNAP5-related disorder	GBenign
Select item 3044645	NM_001367498.1(CNTNAP5):c.1485C>T (p.Pro495=)	CNTNAP5	Single nucleotide variant (synonymous variant)	CNTNAP5-related disorder	GLikely benign
Select item 3045724	NM_001367498.1(CNTNAP5):c.1776C>T (p.Cys592=)	CNTNAP5	Single nucleotide variant (synonymous variant)	CNTNAP5-related disorder	GBenign
Select item 773125	NM_001367498.1(CNTNAP5):c.1806C>T (p.Ala602=)	CNTNAP5	Single nucleotide variant (synonymous variant)	CNTNAP5-related disorder +1 more	GBenign/Likely benign
Select item 716759	NM_001367498.1(CNTNAP5):c.2078A>G (p.Asp693Gly)	CNTNAP5 (D692G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 777957	NM_001367498.1(CNTNAP5):c.2153T>C (p.Val718Ala)	CNTNAP5 (V717A +1 more)	Single nucleotide variant (missense variant)	CNTNAP5-related disorder +1 more	GBenign
Select item 710313	NM_001367498.1(CNTNAP5):c.2234+10A>C	CNTNAP5	Single nucleotide variant (intron variant)	CNTNAP5-related disorder +1 more	GBenign
Select item 3051191	NM_001367498.1(CNTNAP5):c.2619C>T (p.Asn873=)	CNTNAP5	Single nucleotide variant (synonymous variant)	CNTNAP5-related disorder	GLikely benign
Select item 3041264	NM_001367498.1(CNTNAP5):c.2790C>T (p.Cys930=)	CNTNAP5	Single nucleotide variant (synonymous variant)	CNTNAP5-related disorder	GLikely benign
Select item 736908	NM_001367498.1(CNTNAP5):c.2863C>T (p.Pro955Ser)	CNTNAP5 (P954S +1 more)	Single nucleotide variant (missense variant)	CNTNAP5-related disorder +1 more	GLikely benign
Select item 2588012	NM_001367498.1(CNTNAP5):c.2873C>T (p.Pro958Leu)	CNTNAP5 (P958L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2635396	NM_001367498.1(CNTNAP5):c.2876del (p.Gly959fs)	CNTNAP5 (G958fs +1 more)	Deletion (frameshift variant)	CNTNAP5-related disorder	GUncertain significance
Select item 714037	NM_001367498.1(CNTNAP5):c.2992+5C>G	CNTNAP5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 744086	NM_001367498.1(CNTNAP5):c.3129T>C (p.Leu1043=)	CNTNAP5	Single nucleotide variant (synonymous variant)	CNTNAP5-related disorder +1 more	GBenign/Likely benign
Select item 781947	NM_001367498.1(CNTNAP5):c.3559G>A (p.Ala1187Thr)	CNTNAP5 (A1187T +1 more)	Single nucleotide variant (missense variant)	CNTNAP5-related disorder +1 more	GBenign
Select item 3056415	NM_001367498.1(CNTNAP5):c.3587C>T (p.Thr1196Met)	CNTNAP5 (T1195M +1 more)	Single nucleotide variant (missense variant)	CNTNAP5-related disorder	GBenign
Select item 2636919	NM_001367498.1(CNTNAP5):c.3642G>A (p.Val1214=)	CNTNAP5	Single nucleotide variant (synonymous variant)	CNTNAP5-related disorder	GUncertain significance
Select item 2631258	NM_001367498.1(CNTNAP5):c.3725G>A (p.Gly1242Glu)	CNTNAP5 (G1241E +1 more)	Single nucleotide variant (missense variant)	CNTNAP5-related disorder	GUncertain significance
Select item 3041532	NM_001367498.1(CNTNAP5):c.3776T>C (p.Met1259Thr)	CNTNAP5 (M1258T +1 more)	Single nucleotide variant (missense variant)	CNTNAP5-related disorder	GLikely benign
Select item 3049333	NM_001367498.1(CNTNAP5):c.3786C>T (p.Phe1262=)	CNTNAP5	Single nucleotide variant (synonymous variant)	CNTNAP5-related disorder	GBenign
Select item 712361	NM_001367498.1(CNTNAP5):c.3894G>A (p.Val1298=)	CNTNAP5	Single nucleotide variant (synonymous variant)	CNTNAP5-related disorder +1 more	GLikely benign

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: 30