Related gene-specific medical variations for Gene (Select 5101) - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3304634	NM_203487.3(PCDH9):c.3361G>C (p.Gly1121Arg)	PCDH9, PCDH9-AS1 (G1121R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304631	NM_203487.3(PCDH9):c.3097A>G (p.Thr1033Ala)	PCDH9, PCDH9-AS2 (T1033A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3209262	NM_203487.3(PCDH9):c.3511G>C (p.Asp1171His)	PCDH9, PCDH9-AS1 (D1137H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209261	NM_203487.3(PCDH9):c.3461C>T (p.Pro1154Leu)	PCDH9, PCDH9-AS1 (P1154L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685470	GRCh37/hg19 13q21.32(chr13:66543803-67157862)x1	PCDH9	Copy number loss	not provided	GUncertain significance
Select item 2684704	GRCh37/hg19 13q21.2-21.32(chr13:62280955-67477774)x3	PCDH9	Copy number gain	not provided	GUncertain significance
Select item 2643837	NM_203487.3(PCDH9):c.3051C>A (p.Ser1017Arg)	PCDH9, PCDH9-AS2 (S1017R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2643836	NM_203487.3(PCDH9):c.3627C>A (p.Ser1209Arg)	PCDH9, PCDH9-AS1 (S1133R +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2558219	NM_203487.3(PCDH9):c.3098C>T (p.Thr1033Met)	PCDH9, PCDH9-AS2 (T1033M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479630	NM_203487.3(PCDH9):c.3488C>T (p.Pro1163Leu)	PCDH9, PCDH9-AS1 (P1087L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384065	NM_203487.3(PCDH9):c.3482T>G (p.Phe1161Cys)	PCDH9, PCDH9-AS1 (F1127C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293386	NM_203487.3(PCDH9):c.3553G>C (p.Glu1185Gln)	PCDH9, PCDH9-AS1 (E1143Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278952	NM_203487.3(PCDH9):c.3634A>G (p.Thr1212Ala)	PCDH9, PCDH9-AS1 (T1136A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262685	NM_203487.3(PCDH9):c.3505A>G (p.Lys1169Glu)	PCDH9, PCDH9-AS1 (K1127E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226352	NM_203487.3(PCDH9):c.3098C>A (p.Thr1033Lys)	PCDH9, PCDH9-AS2 (T1033K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1527779	GRCh37/hg19 13q21.31-21.33(chr13:63311033-68892738)	PCDH9	Copy number loss	not specified	GUncertain significance
Select item 815596	GRCh37/hg19 13q21.32-21.33(chr13:66469055-70013798)x1	PCDH9	Copy number loss	not provided	GUncertain significance
Select item 687112	GRCh37/hg19 13q21.2-21.32(chr13:62153364-67984114)x1	PCDH9	Copy number loss	not provided	GUncertain significance
Select item 564051	GRCh37/hg19 13q21.32(chr13:66219509-67216145)x3	PCDH9	Copy number gain	not provided	GLikely benign
Select item 564019	GRCh37/hg19 13q21.32(chr13:67289765-67562987)x1	PCDH9	Copy number loss	not provided	GUncertain significance
Select item 563997	GRCh37/hg19 13q21.32(chr13:67348782-67434306)x1	PCDH9	Copy number loss	not provided	GUncertain significance
Select item 394862	GRCh37/hg19 13q21.32(chr13:67109147-67162425)x1	PCDH9	Copy number loss	See cases	GBenign
Select item 394359	GRCh37/hg19 13q21.32(chr13:67593035-67716015)x3	PCDH9	Copy number gain	See cases	GBenign
Select item 394261	GRCh37/hg19 13q21.32(chr13:67307371-67369938)x1	PCDH9	Copy number loss	See cases	GBenign
Select item 153018	GRCh38/hg38 13q21.32(chr13:66753669-66767786)x1	PCDH9	Copy number loss	See cases	GBenign
Select item 145266	GRCh38/hg38 13q21.32(chr13:66753669-66774687)x1	PCDH9	Copy number loss	See cases	GBenign

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Links from Gene

Items: 26