Related gene-specific medical variations for Gene (Select 56121) - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3304842	NM_018935.4(PCDHB15):c.1487C>G (p.Pro496Arg)	PCDHB15, PCDHB@ (P496R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304841	NM_018935.4(PCDHB15):c.269T>G (p.Leu90Arg)	PCDHB15, PCDHB@ (L90R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304840	NM_018935.4(PCDHB15):c.2134C>T (p.Arg712Trp)	PCDHB15, PCDHB@ (R712W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304839	NM_018935.4(PCDHB15):c.1928T>C (p.Leu643Pro)	PCDHB15, PCDHB@ (L643P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304838	NM_018935.4(PCDHB15):c.1732C>T (p.Arg578Trp)	PCDHB15, PCDHB@ (R578W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304837	NM_018935.4(PCDHB15):c.1708G>T (p.Ala570Ser)	PCDHB15, PCDHB@ (A570S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304836	NM_018935.4(PCDHB15):c.2116T>C (p.Phe706Leu)	PCDHB15, PCDHB@ (F706L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3304835	NM_018935.4(PCDHB15):c.322G>C (p.Val108Leu)	PCDHB15, PCDHB@ (V108L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304834	NM_018935.4(PCDHB15):c.172G>A (p.Glu58Lys)	PCDHB15, PCDHB@ (E58K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304833	NM_018935.4(PCDHB15):c.443T>C (p.Leu148Pro)	PCDHB15, PCDHB@ (L148P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3209684	NM_018935.4(PCDHB15):c.98A>G (p.Tyr33Cys)	PCDHB15, PCDHB@ (Y33C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209683	NM_018935.4(PCDHB15):c.708T>A (p.Asn236Lys)	PCDHB15, PCDHB@ (N236K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209682	NM_018935.4(PCDHB15):c.704C>G (p.Ala235Gly)	PCDHB15, PCDHB@ (A235G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209681	NM_018935.4(PCDHB15):c.693G>C (p.Leu231Phe)	PCDHB15, PCDHB@ (L231F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209680	NM_018935.4(PCDHB15):c.62T>C (p.Leu21Pro)	PCDHB15, PCDHB@ (L21P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209679	NM_018935.4(PCDHB15):c.536A>G (p.His179Arg)	PCDHB15, PCDHB@ (H179R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209678	NM_018935.4(PCDHB15):c.469G>A (p.Ala157Thr)	PCDHB15, PCDHB@ (A157T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209677	NM_018935.4(PCDHB15):c.445G>A (p.Gly149Arg)	PCDHB15, PCDHB@ (G149R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209676	NM_018935.4(PCDHB15):c.236T>C (p.Leu79Pro)	PCDHB15, PCDHB@ (L79P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209675	NM_018935.4(PCDHB15):c.2205T>G (p.His735Gln)	PCDHB15, PCDHB@ (H735Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209674	NM_018935.4(PCDHB15):c.19C>A (p.Arg7Ser)	PCDHB15, PCDHB@ (R7S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209673	NM_018935.4(PCDHB15):c.1935G>C (p.Lys645Asn)	PCDHB15, PCDHB@ (K645N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209672	NM_018935.4(PCDHB15):c.1759A>T (p.Thr587Ser)	PCDHB15, PCDHB@ (T587S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209671	NM_018935.4(PCDHB15):c.1726G>A (p.Val576Met)	PCDHB15, PCDHB@ (V576M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209670	NM_018935.4(PCDHB15):c.1460C>A (p.Thr487Asn)	PCDHB15, PCDHB@ (T487N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209669	NM_018935.4(PCDHB15):c.1307G>A (p.Ser436Asn)	PCDHB15, PCDHB@ (S436N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3209668	NM_018935.4(PCDHB15):c.1305G>C (p.Gln435His)	PCDHB15, PCDHB@ (Q435H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2613550	NM_018935.4(PCDHB15):c.268C>G (p.Leu90Val)	PCDHB15, PCDHB@ (L90V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610014	NM_018935.4(PCDHB15):c.200T>C (p.Val67Ala)	PCDHB15, PCDHB@ (V67A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605732	NM_018935.4(PCDHB15):c.1616C>T (p.Pro539Leu)	PCDHB15, PCDHB@ (P539L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600087	NM_018935.4(PCDHB15):c.50T>A (p.Leu17His)	PCDHB15, PCDHB@ (L17H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598562	NM_018935.4(PCDHB15):c.649G>A (p.Gly217Ser)	PCDHB15, PCDHB@ (G217S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551356	NM_018935.4(PCDHB15):c.1411G>A (p.Gly471Ser)	PCDHB15, PCDHB@ (G471S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548887	NM_018935.4(PCDHB15):c.1537C>A (p.Leu513Met)	PCDHB15, PCDHB@ (L513M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530519	NM_018935.4(PCDHB15):c.49C>A (p.Leu17Ile)	PCDHB15, PCDHB@ (L17I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529099	NM_018935.4(PCDHB15):c.905G>A (p.Arg302Gln)	PCDHB15, PCDHB@ (R302Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522092	NM_018935.4(PCDHB15):c.1411G>C (p.Gly471Arg)	PCDHB15, PCDHB@ (G471R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514617	NM_018935.4(PCDHB15):c.688A>C (p.Ile230Leu)	PCDHB15, PCDHB@ (I230L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512389	NM_018935.4(PCDHB15):c.1846G>C (p.Gly616Arg)	PCDHB15, PCDHB@ (G616R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481320	NM_018935.4(PCDHB15):c.644T>C (p.Val215Ala)	PCDHB15, PCDHB@ (V215A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471841	NM_018935.4(PCDHB15):c.554G>T (p.Arg185Leu)	PCDHB15, PCDHB@ (R185L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465243	NM_018935.4(PCDHB15):c.1584G>C (p.Glu528Asp)	PCDHB15, PCDHB@ (E528D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464034	NM_018935.4(PCDHB15):c.1118G>C (p.Arg373Pro)	PCDHB15, PCDHB@ (R373P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458223	NM_018935.4(PCDHB15):c.1531G>C (p.Gly511Arg)	PCDHB15, PCDHB@ (G511R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404601	NM_018935.4(PCDHB15):c.2009A>T (p.Tyr670Phe)	PCDHB15, PCDHB@ (Y670F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399164	NM_018935.4(PCDHB15):c.1342G>T (p.Ala448Ser)	PCDHB15, PCDHB@ (A448S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386023	NM_018935.4(PCDHB15):c.518C>A (p.Ser173Tyr)	PCDHB15, PCDHB@ (S173Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381353	NM_018935.4(PCDHB15):c.1648C>G (p.Leu550Val)	PCDHB15, PCDHB@ (L550V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370439	NM_018935.4(PCDHB15):c.1819C>T (p.Leu607Phe)	PCDHB15, PCDHB@ (L607F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361328	NM_018935.4(PCDHB15):c.2189G>A (p.Gly730Asp)	PCDHB15, PCDHB@ (G730D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354401	NM_018935.4(PCDHB15):c.1348G>T (p.Ala450Ser)	PCDHB15, PCDHB@ (A450S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348720	NM_018935.4(PCDHB15):c.2327G>A (p.Ser776Asn)	PCDHB15, PCDHB@ (S776N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337519	NM_018935.4(PCDHB15):c.664C>G (p.Arg222Gly)	PCDHB15, PCDHB@ (R222G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330512	NM_018935.4(PCDHB15):c.214G>A (p.Glu72Lys)	PCDHB15, PCDHB@ (E72K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327553	NM_018935.4(PCDHB15):c.2159C>A (p.Ala720Asp)	PCDHB15, PCDHB@ (A720D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313914	NM_018935.4(PCDHB15):c.341T>C (p.Leu114Ser)	PCDHB15, PCDHB@ (L114S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311240	NM_018935.4(PCDHB15):c.1634C>T (p.Ala545Val)	PCDHB15, PCDHB@ (A545V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310813	NM_018935.4(PCDHB15):c.1396C>T (p.Pro466Ser)	PCDHB15, PCDHB@ (P466S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291803	NM_018935.4(PCDHB15):c.1217A>T (p.Glu406Val)	PCDHB15, PCDHB@ (E406V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289626	NM_018935.4(PCDHB15):c.1573C>A (p.Gln525Lys)	PCDHB15, PCDHB@ (Q525K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274977	NM_018935.4(PCDHB15):c.1651G>T (p.Val551Leu)	PCDHB15, PCDHB@ (V551L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265929	NM_018935.4(PCDHB15):c.1304A>T (p.Gln435Leu)	PCDHB15, PCDHB@ (Q435L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263244	NM_018935.4(PCDHB15):c.2293A>C (p.Lys765Gln)	PCDHB15, PCDHB@ (K765Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259017	NM_018935.4(PCDHB15):c.233A>T (p.Asp78Val)	PCDHB15, PCDHB@ (D78V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244732	NM_018935.4(PCDHB15):c.1687T>G (p.Tyr563Asp)	PCDHB15, PCDHB@ (Y563D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242161	NM_018935.4(PCDHB15):c.1355C>T (p.Thr452Ile)	PCDHB15, PCDHB@ (T452I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211377	NM_018935.4(PCDHB15):c.1977A>C (p.Gln659His)	PCDHB15, PCDHB@ (Q659H)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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Links from Gene

Items: 67