PCDHGA10[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	See cases	GPathogenic
Select item 147816	GRCh38/hg38 5q31.3(chr5:140963199-142322798)x1	ARAP3, DELE1 +123 more	Copy number loss	See cases	GUncertain significance
Select item 150685	GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	ABLIM3, ADRB2 +313 more	Copy number gain	See cases	GPathogenic
Select item 736375	NM_018913.3(PCDHGA10):c.32C>G (p.Ser11Ter)	PCDHG@, PCDHGA1 +15 more (S11*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign
Select item 3304921	NM_018913.3(PCDHGA10):c.97C>T (p.Arg33Trp)	PCDHG@, PCDHGA1 +15 more (R33W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249593	NM_018913.3(PCDHGA10):c.164A>G (p.Asp55Gly)	PCDHG@, PCDHGA1 +15 more (D55G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209856	NM_018913.3(PCDHGA10):c.232C>G (p.Leu78Val)	PCDHG@, PCDHGA1 +15 more (L78V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304918	NM_018913.3(PCDHGA10):c.241C>G (p.Leu81Val)	PCDHG@, PCDHGA1 +15 more (L81V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 720930	NM_018913.3(PCDHGA10):c.251G>T (p.Arg84Leu)	PCDHG@, PCDHGA1 +15 more (R84L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3304920	NM_018913.3(PCDHGA10):c.260G>T (p.Ser87Ile)	PCDHG@, PCDHGA1 +15 more (S87I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344571	NM_018913.3(PCDHGA10):c.349A>T (p.Arg117Trp)	PCDHG@, PCDHGA1 +15 more (R117W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319873	NM_018913.3(PCDHGA10):c.425T>A (p.Leu142Gln)	PCDHG@, PCDHGA1 +15 more (L142Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209858	NM_018913.3(PCDHGA10):c.449T>C (p.Val150Ala)	PCDHG@, PCDHGA1 +15 more (V150A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209859	NM_018913.3(PCDHGA10):c.520T>C (p.Tyr174His)	PCDHG@, PCDHGA1 +15 more (Y174H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330971	NM_018913.3(PCDHGA10):c.577G>A (p.Val193Ile)	PCDHG@, PCDHGA1 +15 more (V193I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209860	NM_018913.3(PCDHGA10):c.613G>A (p.Asp205Asn)	PCDHG@, PCDHGA1 +15 more (D205N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278828	NM_018913.3(PCDHGA10):c.619G>A (p.Glu207Lys)	PCDHG@, PCDHGA1 +15 more (E207K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 780961	NM_018913.3(PCDHGA10):c.651C>T (p.Thr217=)	PCDHG@, PCDHGA1 +15 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3304919	NM_018913.3(PCDHGA10):c.731C>T (p.Pro244Leu)	PCDHG@, PCDHGA1 +15 more (P244L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3064660	NM_018912.3(PCDHGA1):c.2422-80809G>A	PCDHG@, PCDHGA1 +15 more (E275K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295942	NM_018913.3(PCDHGA10):c.840A>T (p.Glu280Asp)	PCDHG@, PCDHGA1 +15 more (E280D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655861	NM_018913.3(PCDHGA10):c.990A>G (p.Ala330=)	PCDHG@, PCDHGA1 +15 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2250708	NM_018913.3(PCDHGA10):c.995T>C (p.Leu332Pro)	PCDHG@, PCDHGA1 +15 more (L332P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521925	NM_018913.3(PCDHGA10):c.1000A>G (p.Thr334Ala)	PCDHG@, PCDHGA1 +15 more (T334A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290359	NM_018913.3(PCDHGA10):c.1014G>C (p.Leu338Phe)	PCDHG@, PCDHGA1 +15 more (L338F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465148	NM_018913.3(PCDHGA10):c.1298G>C (p.Ser433Thr)	PCDHG@, PCDHGA1 +15 more (S433T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209848	NM_018913.3(PCDHGA10):c.1304C>G (p.Pro435Arg)	PCDHG@, PCDHGA1 +15 more (P435R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209849	NM_018913.3(PCDHGA10):c.1478A>G (p.Tyr493Cys)	PCDHG@, PCDHGA1 +15 more (Y493C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476887	NM_018913.3(PCDHGA10):c.1481C>A (p.Ser494Tyr)	PCDHG@, PCDHGA1 +15 more (S494Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237434	NM_018913.3(PCDHGA10):c.1499T>A (p.Ile500Asn)	PCDHG@, PCDHGA1 +15 more (I500N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369951	NM_018913.3(PCDHGA10):c.1511C>A (p.Pro504His)	PCDHG@, PCDHGA1 +15 more (P504H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215167	NM_018913.3(PCDHGA10):c.1522T>A (p.Tyr508Asn)	PCDHG@, PCDHGA1 +15 more (Y508N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341093	NM_018913.3(PCDHGA10):c.1604A>G (p.Gln535Arg)	PCDHG@, PCDHGA1 +15 more (Q535R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412261	NM_018913.3(PCDHGA10):c.1612G>C (p.Ala538Pro)	PCDHG@, PCDHGA1 +15 more (A538P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209850	NM_018913.3(PCDHGA10):c.1648G>T (p.Val550Leu)	PCDHG@, PCDHGA1 +15 more (V550L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320638	NM_018913.3(PCDHGA10):c.1723G>A (p.Gly575Ser)	PCDHG@, PCDHGA1 +15 more (G575S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250284	NM_018913.3(PCDHGA10):c.1790C>T (p.Ala597Val)	PCDHG@, PCDHGA1 +15 more (A597V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 792013	NM_018913.3(PCDHGA10):c.1834C>T (p.Leu612=)	PCDHG@, PCDHGA1 +15 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2253248	NM_018913.3(PCDHGA10):c.1856G>T (p.Gly619Val)	PCDHG@, PCDHGA1 +15 more (G619V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209851	NM_018913.3(PCDHGA10):c.1862T>G (p.Phe621Cys)	PCDHG@, PCDHGA1 +15 more (F621C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209852	NM_018913.3(PCDHGA10):c.1887G>T (p.Glu629Asp)	PCDHG@, PCDHGA1 +15 more (E629D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 776069	NM_018913.3(PCDHGA10):c.1932A>G (p.Gln644=)	PCDHG@, PCDHGA1 +15 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2322098	NM_018913.3(PCDHGA10):c.1990C>G (p.Leu664Val)	PCDHG@, PCDHGA1 +15 more (L664V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324322	NM_018913.3(PCDHGA10):c.2020C>G (p.Gln674Glu)	PCDHG@, PCDHGA1 +15 more (Q674E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2285889	NM_018913.3(PCDHGA10):c.2035C>G (p.Leu679Val)	PCDHG@, PCDHGA1 +15 more (L679V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655862	NM_018913.3(PCDHGA10):c.2109G>C (p.Ala703=)	PCDHG@, PCDHGA1 +15 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3209854	NM_018913.3(PCDHGA10):c.2117G>T (p.Cys706Phe)	PCDHG@, PCDHGA1 +15 more (C706F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209855	NM_018913.3(PCDHGA10):c.2134G>C (p.Val712Leu)	PCDHG@, PCDHGA1 +15 more (V712L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 782455	NM_018913.3(PCDHGA10):c.2188C>T (p.Gln730Ter)	PCDHGA3, PCDHGA4 +15 more (Q730*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign
Select item 2589551	NM_018913.3(PCDHGA10):c.2411C>T (p.Pro804Leu)	PCDHG@, PCDHGA1 +15 more (P804L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209857	NM_018913.3(PCDHGA10):c.2413A>G (p.Ile805Val)	PCDHG@, PCDHGA1 +15 more (I805V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2469915	NM_018927.4(PCDHGB7):c.100C>T (p.Arg34Cys)	PCDHG@, PCDHGA1 +16 more (R34C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251283	NM_018927.4(PCDHGB7):c.121C>A (p.Leu41Met)	PCDHGA10, PCDHGA2 +16 more (L41M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210100	NM_018927.4(PCDHGB7):c.182T>C (p.Val61Ala)	PCDHG@, PCDHGA1 +16 more (V61A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458349	NM_018927.4(PCDHGB7):c.182T>G (p.Val61Gly)	PCDHG@, PCDHGA1 +16 more (V61G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210102	NM_018927.4(PCDHGB7):c.197T>G (p.Leu66Arg)	PCDHG@, PCDHGA1 +16 more (L66R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305057	NM_018927.4(PCDHGB7):c.226A>C (p.Ser76Arg)	PCDHG@, PCDHGA1 +16 more (S76R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539926	NM_018927.4(PCDHGB7):c.262G>A (p.Asp88Asn)	PCDHG@, PCDHGA1 +16 more (D88N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305056	NM_018927.4(PCDHGB7):c.385C>T (p.His129Tyr)	PCDHG@, PCDHGA1 +16 more (H129Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310895	NM_018927.4(PCDHGB7):c.391C>T (p.Pro131Ser)	PCDHG@, PCDHGA1 +16 more (P131S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271920	NM_018927.4(PCDHGB7):c.557C>G (p.Pro186Arg)	PCDHG@, PCDHGA1 +16 more (P186R)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 3305054	NM_018927.4(PCDHGB7):c.565G>A (p.Gly189Ser)	PCDHG@, PCDHGA1 +16 more (G189S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210107	NM_018927.4(PCDHGB7):c.631G>A (p.Val211Ile)	PCDHGB3, PCDHGB4 +16 more (V211I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555614	NM_018927.4(PCDHGB7):c.655G>A (p.Asp219Asn)	PCDHG@, PCDHGA1 +16 more (D219N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330393	NM_018927.4(PCDHGB7):c.661C>A (p.Pro221Thr)	PCDHG@, PCDHGA1 +16 more (P221T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490251	NM_018927.4(PCDHGB7):c.736G>A (p.Val246Met)	PCDHG@, PCDHGA1 +16 more (V246M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208991	NM_018927.4(PCDHGB7):c.761A>T (p.Asp254Val)	PCDHG@, PCDHGA1 +16 more (D254V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210109	NM_018927.4(PCDHGB7):c.904C>G (p.Leu302Val)	PCDHG@, PCDHGA1 +16 more (L302V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313730	NM_018927.4(PCDHGB7):c.947C>T (p.Thr316Met)	PCDHG@, PCDHGA1 +16 more (T316M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559409	NM_018927.4(PCDHGB7):c.955A>G (p.Ile319Val)	PCDHG@, PCDHGA1 +16 more (I319V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3210110	NM_018927.4(PCDHGB7):c.956T>C (p.Ile319Thr)	PCDHG@, PCDHGA1 +16 more (I319T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264089	NM_018927.4(PCDHGB7):c.989G>A (p.Arg330Gln)	PCDHG@, PCDHGA1 +16 more (R330Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2609291	NM_018927.4(PCDHGB7):c.1091T>A (p.Val364Glu)	PCDHG@, PCDHGA1 +16 more (V364E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276976	NM_018927.4(PCDHGB7):c.1204T>A (p.Tyr402Asn)	PCDHG@, PCDHGA1 +16 more (Y402N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345847	NM_018927.4(PCDHGB7):c.1205A>G (p.Tyr402Cys)	PCDHGA2, PCDHGA3 +16 more (Y402C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599796	NM_018927.4(PCDHGB7):c.1310C>T (p.Thr437Ile)	PCDHG@, PCDHGA1 +16 more (T437I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210099	NM_018927.4(PCDHGB7):c.1463C>T (p.Ser488Phe)	PCDHG@, PCDHGA1 +16 more (S488F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401804	NM_018927.4(PCDHGB7):c.1477G>A (p.Ala493Thr)	PCDHG@, PCDHGA1 +16 more (A493T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305055	NM_018927.4(PCDHGB7):c.1513G>A (p.Val505Met)	PCDHG@, PCDHGA1 +16 more (V505M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340386	NM_018927.4(PCDHGB7):c.1534G>C (p.Gly512Arg)	PCDHG@, PCDHGA1 +16 more (G512R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305052	NM_018927.4(PCDHGB7):c.1558T>G (p.Phe520Val)	PCDHG@, PCDHGA1 +16 more (F520V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569465	NM_018927.4(PCDHGB7):c.1579A>G (p.Thr527Ala)	PCDHG@, PCDHGA1 +16 more (T527A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2569466	NM_018927.4(PCDHGB7):c.1584C>G (p.Phe528Leu)	PCDHG@, PCDHGA1 +16 more (F528L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552110	NM_018927.4(PCDHGB7):c.1598A>G (p.Gln533Arg)	PCDHG@, PCDHGA1 +16 more (Q533R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569467	NM_018927.4(PCDHGB7):c.1611G>C (p.Gln537His)	PCDHG@, PCDHGA1 +16 more (Q537H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373247	NM_018927.4(PCDHGB7):c.1616C>T (p.Ser539Leu)	PCDHG@, PCDHGA1 +16 more (S539L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569468	NM_018927.4(PCDHGB7):c.1627A>C (p.Ser543Arg)	PCDHG@, PCDHGA1 +16 more (S543R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228037	NM_018927.4(PCDHGB7):c.1668C>G (p.Asn556Lys)	PCDHG@, PCDHGA1 +16 more (N556K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329076	NM_018927.4(PCDHGB7):c.1703G>A (p.Gly568Asp)	PCDHG@, PCDHGA1 +16 more (G568D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352240	NM_018927.4(PCDHGB7):c.1732G>A (p.Val578Met)	PCDHG@, PCDHGA1 +16 more (V578M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210101	NM_018927.4(PCDHGB7):c.1901A>T (p.Asp634Val)	PCDHG@, PCDHGA1 +16 more (D634V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386470	NM_018927.4(PCDHGB7):c.2051C>T (p.Ser684Phe)	PCDHG@, PCDHGA1 +16 more (S684F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511050	NM_018927.4(PCDHGB7):c.2116G>A (p.Ala706Thr)	PCDHG@, PCDHGA1 +16 more (A706T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210103	NM_018927.4(PCDHGB7):c.2135C>T (p.Ala712Val)	PCDHG@, PCDHGA1 +16 more (A712V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321193	NM_018927.4(PCDHGB7):c.2173G>A (p.Asp725Asn)	PCDHG@, PCDHGA1 +16 more (D725N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398227	NM_018927.4(PCDHGB7):c.2231G>A (p.Ser744Asn)	PCDHG@, PCDHGA1 +16 more (S744N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2326470	NM_018927.4(PCDHGB7):c.2242T>A (p.Leu748Met)	PCDHG@, PCDHGA1 +16 more (L748M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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