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

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

Search results

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 227837	NM_001384140.1(PCDH15):c.4891C>T (p.Leu1631=)	PCDH15	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 504714	NM_001384140.1(PCDH15):c.4671+1438A>C	PCDH15 (E1649D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 178678	NM_001384140.1(PCDH15):c.4671+1053A>C	PCDH15 (E1521A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 46506	NM_033056.4(PCDH15):c.5603C>T (p.Thr1868Met)	PCDH15 (T1868M +8 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1 +2 more	GConflicting classifications of pathogenicity
Select item 46503	NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=)	PCDH15	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 177747	NM_033056.4(PCDH15):c.5557A>C (p.Met1853Leu)	PCDH15 (M1853L +8 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 46502	NM_033056.4(PCDH15):c.5550C>A (p.Thr1850=)	PCDH15	Single nucleotide variant (synonymous variant +1 more)	Usher syndrome type 1 +2 more	GBenign/Likely benign
Select item 46499	NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile)	PCDH15 (V1800I +8 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1D +6 more	GBenign/Likely benign
Select item 46498	NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser)	PCDH15 (P1787S +8 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 46494	NM_033056.4(PCDH15):c.5296_5304dup (p.Ala1766_Pro1768dup)	PCDH15	Duplication (inframe_insertion +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 421481	NM_033056.4(PCDH15):c.5278_5286del (p.Pro1760_Pro1762del)	PCDH15	Deletion (inframe_deletion +1 more)	PCDH15-related disorder +3 more	GLikely benign
Select item 46488	NM_033056.4(PCDH15):c.5245CCT[3] (p.Pro1752del)	PCDH15 (P1752del +8 more)	Microsatellite (inframe_deletion +1 more)	PCDH15-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 178519	NM_033056.4(PCDH15):c.4974A>C (p.Ser1658=)	PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 46487	NM_033056.4(PCDH15):c.4884T>C (p.Thr1628=)	PCDH15	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 1284331	NM_033056.4(PCDH15):c.4717C>G (p.Leu1573Val)	PCDH15 (L1504V +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 417942	NM_001384140.1(PCDH15):c.3857T>A (p.Val1286Glu)	PCDH15 (V1286E +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 196045	NM_001384140.1(PCDH15):c.3717+8G>C	PCDH15	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 46470	NM_001384140.1(PCDH15):c.3532G>A (p.Val1178Ile)	PCDH15 (V1178I +6 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 46469	NM_001384140.1(PCDH15):c.3502-8C>T	PCDH15	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 46458	NM_001384140.1(PCDH15):c.2885G>T (p.Arg962Leu)	PCDH15 (R962L +6 more)	Single nucleotide variant (missense variant)	PCDH15-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 46457	NM_001384140.1(PCDH15):c.2885G>A (p.Arg962His)	PCDH15 (R962H +6 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 164914	NM_001384140.1(PCDH15):c.2884C>T (p.Arg962Cys)	PCDH15 (R962C +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +3 more	GConflicting classifications of pathogenicity
Select item 860309	NM_001384140.1(PCDH15):c.2868+2T>C	PCDH15 (V957A)	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 792481	NM_001384140.1(PCDH15):c.2751+9T>C	PCDH15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 46454	NM_001384140.1(PCDH15):c.2625G>A (p.Ser875=)	PCDH15	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 300188	NM_001384140.1(PCDH15):c.2581G>A (p.Val861Met)	PCDH15 (V861M +6 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 46453	NM_001384140.1(PCDH15):c.2563C>T (p.Arg855Trp)	PCDH15 (R855W +6 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 178628	NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr)	PCDH15 (I812T +6 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 46447	NM_001384140.1(PCDH15):c.1702G>A (p.Ala568Thr)	PCDH15 (A568T +5 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 46443	NM_001384140.1(PCDH15):c.1362C>T (p.Val454=)	PCDH15	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 46434	NM_001384140.1(PCDH15):c.1039C>T (p.Leu347Phe)	PCDH15 (L347F +3 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +3 more	GConflicting classifications of pathogenicity
Select item 4933	NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter)	PCDH15 (R245* +3 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 23 +5 more	GPathogenic
Select item 504670	NM_001384140.1(PCDH15):c.92-10C>T	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 4931	NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter)	PCDH15 (R3*)	Single nucleotide variant (nonsense)	Rare genetic deafness +3 more	GPathogenic/Likely pathogenic

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: 34