"Ambry Genetics"[submitter] AND "PCDHB8"[gene] - ClinVar

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

Search results

Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3304910	NM_019120.5(PCDHB8):c.106G>C (p.Val36Leu)	PCDHB8, PCDHB@ (V36L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278465	NM_019120.5(PCDHB8):c.123G>C (p.Glu41Asp)	PCDHB8, PCDHB@ (E41D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304903	NM_019120.5(PCDHB8):c.144T>C (p.Asn48=)	PCDHB8, PCDHB@	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3304897	NM_019120.5(PCDHB8):c.149C>G (p.Ala50Gly)	PCDHB8, PCDHB@ (A50G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519946	NM_019120.5(PCDHB8):c.323A>C (p.Gln108Pro)	PCDHB8, PCDHB@ (Q108P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611030	NM_019120.5(PCDHB8):c.325G>A (p.Val109Met)	PCDHB8, PCDHB@ (V109M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222189	NM_019120.5(PCDHB8):c.364C>G (p.Leu122Val)	PCDHB8, PCDHB@ (L122V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222190	NM_019120.5(PCDHB8):c.417G>T (p.Met139Ile)	PCDHB8, PCDHB@ (M139I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3209817	NM_019120.5(PCDHB8):c.427G>A (p.Val143Ile)	PCDHB8, PCDHB@ (V143I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3209819	NM_019120.5(PCDHB8):c.454G>A (p.Ala152Thr)	PCDHB8, PCDHB@ (A152T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2278987	NM_019120.5(PCDHB8):c.455C>A (p.Ala152Glu)	PCDHB8, PCDHB@ (A152E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528695	NM_019120.5(PCDHB8):c.631T>G (p.Leu211Val)	PCDHB8, PCDHB@ (L211V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600227	NM_019120.5(PCDHB8):c.749T>C (p.Val250Ala)	PCDHB8, PCDHB@ (V250A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209820	NM_019120.5(PCDHB8):c.753G>T (p.Gln251His)	PCDHB8, PCDHB@ (Q251H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304909	NM_019120.5(PCDHB8):c.766A>G (p.Ser256Gly)	PCDHB8, PCDHB@ (S256G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469200	NM_019120.5(PCDHB8):c.776G>C (p.Ser259Thr)	PCDHB8, PCDHB@ (S259T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304906	NM_019120.5(PCDHB8):c.826G>A (p.Gly276Arg)	PCDHB8, PCDHB@ (G276R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209821	NM_019120.5(PCDHB8):c.861T>G (p.Asp287Glu)	PCDHB8, PCDHB@ (D287E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3209822	NM_019120.5(PCDHB8):c.886G>A (p.Asp296Asn)	PCDHB8, PCDHB@ (D296N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2261456	NM_019120.5(PCDHB8):c.904A>G (p.Ile302Val)	PCDHB8, PCDHB@ (I302V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378245	NM_019120.5(PCDHB8):c.1049T>A (p.Met350Lys)	PCDHB8, PCDHB@ (M350K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209805	NM_019120.5(PCDHB8):c.1075G>A (p.Glu359Lys)	PCDHB8, PCDHB@ (E359K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339828	NM_019120.5(PCDHB8):c.1082C>A (p.Ala361Glu)	PCDHB8, PCDHB@ (A361E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209806	NM_019120.5(PCDHB8):c.1138G>A (p.Gly380Arg)	PCDHB8, PCDHB@ (G380R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298908	NM_019120.5(PCDHB8):c.1150T>C (p.Cys384Arg)	PCDHB8, PCDHB@ (C384R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209807	NM_019120.5(PCDHB8):c.1162G>A (p.Glu388Lys)	PCDHB8, PCDHB@ (E388K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304908	NM_019120.5(PCDHB8):c.1238A>G (p.Glu413Gly)	PCDHB8, PCDHB@ (E413G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209808	NM_019120.5(PCDHB8):c.1240A>T (p.Ser414Cys)	PCDHB8, PCDHB@ (S414C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209809	NM_019120.5(PCDHB8):c.1301C>G (p.Thr434Arg)	PCDHB8, PCDHB@ (T434R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209810	NM_019120.5(PCDHB8):c.1315A>G (p.Thr439Ala)	PCDHB8, PCDHB@ (T439A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304905	NM_019120.5(PCDHB8):c.1324G>T (p.Val442Leu)	PCDHB8, PCDHB@ (V442L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304900	NM_019120.5(PCDHB8):c.1358C>T (p.Thr453Ile)	PCDHB8, PCDHB@ (T453I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304902	NM_019120.5(PCDHB8):c.1413C>G (p.Ile471Met)	PCDHB8, PCDHB@ (I471M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309764	NM_019120.5(PCDHB8):c.1424G>A (p.Ser475Asn)	PCDHB8, PCDHB@ (S475N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363499	NM_019120.5(PCDHB8):c.1425C>A (p.Ser475Arg)	PCDHB8, PCDHB@ (S475R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246448	NM_019120.5(PCDHB8):c.1441T>G (p.Ser481Ala)	PCDHB8, PCDHB@ (S481A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3209811	NM_019120.5(PCDHB8):c.1452C>G (p.Asn484Lys)	PCDHB8, PCDHB@ (N484K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250956	NM_019120.5(PCDHB8):c.1453G>A (p.Ala485Thr)	PCDHB8, PCDHB@ (A485T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302458	NM_019120.5(PCDHB8):c.1478C>G (p.Pro493Arg)	PCDHB8, PCDHB@ (P493R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209812	NM_019120.5(PCDHB8):c.1501C>G (p.Leu501Val)	PCDHB8, PCDHB@ (L501V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304899	NM_019120.5(PCDHB8):c.1523A>G (p.Asn508Ser)	PCDHB8, PCDHB@ (N508S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461585	NM_019120.5(PCDHB8):c.1525A>G (p.Thr509Ala)	PCDHB8, PCDHB@ (T509A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2320878	NM_019120.5(PCDHB8):c.1603T>G (p.Ser535Ala)	PCDHB8, PCDHB@ (S535A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3209813	NM_019120.5(PCDHB8):c.1706G>A (p.Gly569Asp)	PCDHB8, PCDHB@ (G569D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403834	NM_019120.5(PCDHB8):c.1712C>T (p.Ala571Val)	PCDHB8, PCDHB@ (A571V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485944	NM_019120.5(PCDHB8):c.1862A>G (p.His621Arg)	PCDHB8, PCDHB@ (H621R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304901	NM_019120.5(PCDHB8):c.1872G>T (p.Glu624Asp)	PCDHB8, PCDHB@ (E624D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304907	NM_019120.5(PCDHB8):c.1879A>G (p.Thr627Ala)	PCDHB8, PCDHB@ (T627A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340031	NM_019120.5(PCDHB8):c.1900C>G (p.Arg634Gly)	PCDHB8, PCDHB@ (R634G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281241	NM_019120.5(PCDHB8):c.1973C>T (p.Thr658Met)	PCDHB8, PCDHB@ (T658M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509597	NM_019120.5(PCDHB8):c.1995C>G (p.Asp665Glu)	PCDHB8, PCDHB@ (D665E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211141	NM_019120.5(PCDHB8):c.1996G>C (p.Gly666Arg)	PCDHB8, PCDHB@ (G666R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242942	NM_019120.5(PCDHB8):c.2027A>G (p.Glu676Gly)	PCDHB8, PCDHB@ (E676G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215095	NM_019120.5(PCDHB8):c.2044G>A (p.Gly682Ser)	PCDHB8, PCDHB@ (G682S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209814	NM_019120.5(PCDHB8):c.2045G>C (p.Gly682Ala)	PCDHB8, PCDHB@ (G682A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2301736	NM_019120.5(PCDHB8):c.2047C>G (p.Gln683Glu)	PCDHB8, PCDHB@ (Q683E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240291	NM_019120.5(PCDHB8):c.2053G>A (p.Asp685Asn)	PCDHB8, PCDHB@ (D685N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304898	NM_019120.5(PCDHB8):c.2063C>T (p.Thr688Ile)	PCDHB8, PCDHB@ (T688I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210864	NM_019120.5(PCDHB8):c.2080G>A (p.Ala694Thr)	PCDHB8, PCDHB@ (A694T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399257	NM_019120.5(PCDHB8):c.2106C>G (p.Phe702Leu)	PCDHB8, PCDHB@ (F702L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209815	NM_019120.5(PCDHB8):c.2114C>T (p.Ser705Leu)	PCDHB8, PCDHB@ (S705L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369517	NM_019120.5(PCDHB8):c.2153G>A (p.Ser718Asn)	PCDHB8, PCDHB@ (S718N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359990	NM_019120.5(PCDHB8):c.2164T>C (p.Ser722Pro)	PCDHB8, PCDHB@ (S722P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226919	NM_019120.5(PCDHB8):c.2174G>T (p.Arg725Leu)	PCDHB8, PCDHB@ (R725L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606715	NM_019120.5(PCDHB8):c.2192G>A (p.Gly731Asp)	PCDHB8, PCDHB@ (G731D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226173	NM_019120.5(PCDHB8):c.2203G>A (p.Gly735Arg)	PCDHB8, PCDHB@ (G735R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304896	NM_019120.5(PCDHB8):c.2215G>C (p.Asp739His)	PCDHB8, PCDHB@ (D739H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542370	NM_019120.5(PCDHB8):c.2230G>T (p.Gly744Trp)	PCDHB8, PCDHB@ (G744W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622419	NM_019120.5(PCDHB8):c.2282G>T (p.Gly761Val)	PCDHB8, PCDHB@ (G761V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337815	NM_019120.5(PCDHB8):c.2303T>G (p.Leu768Arg)	PCDHB8, PCDHB@ (L768R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604030	NM_019120.5(PCDHB8):c.2312T>A (p.Val771Glu)	PCDHB8, PCDHB@ (V771E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209816	NM_019120.5(PCDHB8):c.2349A>T (p.Glu783Asp)	PCDHB8, PCDHB@ (E783D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524485	NM_019120.5(PCDHB8):c.2367C>G (p.Asn789Lys)	PCDHB8, PCDHB@ (N789K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304904	NM_019120.5(PCDHB8):c.2378G>A (p.Gly793Asp)	PCDHB8, PCDHB@ (G793D)	Single nucleotide variant (missense variant)	not specified	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: 74