PCDHGA5[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 3304965	NM_018918.3(PCDHGA5):c.26G>T (p.Gly9Val)	PCDHG@, PCDHGA1 +6 more (G9V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209954	NM_018918.3(PCDHGA5):c.30C>G (p.Cys10Trp)	PCDHG@, PCDHGA1 +6 more (C10W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209956	NM_018918.3(PCDHGA5):c.46C>T (p.Pro16Ser)	PCDHG@, PCDHGA1 +6 more (P16S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209957	NM_018918.3(PCDHGA5):c.50T>C (p.Phe17Ser)	PCDHG@, PCDHGA1 +6 more (F17S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209939	NM_018918.3(PCDHGA5):c.142A>G (p.Ile48Val)	PCDHG@, PCDHGA1 +6 more (I48V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249014	NM_018918.3(PCDHGA5):c.143T>C (p.Ile48Thr)	PCDHG@, PCDHGA1 +6 more (I48T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588353	NM_018918.3(PCDHGA5):c.187G>A (p.Gly63Arg)	PCDHG@, PCDHGA1 +6 more (G63R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529396	NM_018918.3(PCDHGA5):c.194G>T (p.Arg65Leu)	PCDHG@, PCDHGA1 +6 more (R65L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273200	NM_018918.3(PCDHGA5):c.199G>A (p.Val67Ile)	PCDHG@, PCDHGA1 +6 more (V67I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209953	NM_018918.3(PCDHGA5):c.260C>G (p.Ala87Gly)	PCDHG@, PCDHGA1 +6 more (A87G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304958	NM_018918.3(PCDHGA5):c.265A>G (p.Arg89Gly)	PCDHG@, PCDHGA1 +6 more (R89G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559931	NM_018918.3(PCDHGA5):c.274C>G (p.Arg92Gly)	PCDHG@, PCDHGA1 +6 more (R92G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399007	NM_018918.3(PCDHGA5):c.275G>A (p.Arg92Gln)	PCDHG@, PCDHGA1 +6 more (R92Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615200	NM_018918.3(PCDHGA5):c.283C>G (p.Leu95Val)	PCDHG@, PCDHGA1 +6 more (L95V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334313	NM_018918.3(PCDHGA5):c.301C>G (p.Leu101Val)	PCDHG@, PCDHGA1 +6 more (L101V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209955	NM_018918.3(PCDHGA5):c.311T>C (p.Val104Ala)	PCDHG@, PCDHGA1 +6 more (V104A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570160	NM_018918.3(PCDHGA5):c.425T>C (p.Val142Ala)	PCDHG@, PCDHGA1 +6 more (V142A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342554	NM_018918.3(PCDHGA5):c.524A>G (p.Asn175Ser)	PCDHG@, PCDHGA1 +6 more (N175S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209958	NM_018918.3(PCDHGA5):c.567A>C (p.Gln189His)	PCDHG@, PCDHGA1 +6 more (Q189H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536333	NM_018918.3(PCDHGA5):c.604C>T (p.Arg202Cys)	PCDHGA1, PCDHGA2 +6 more (R202C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508416	NM_018918.3(PCDHGA5):c.638C>T (p.Thr213Ile)	PCDHG@, PCDHGA1 +6 more (T213I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351789	NM_018918.3(PCDHGA5):c.679C>T (p.His227Tyr)	PCDHG@, PCDHGA1 +6 more (H227Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304956	NM_018918.3(PCDHGA5):c.712A>T (p.Asn238Tyr)	PCDHG@, PCDHGA1 +6 more (N238Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234425	NM_018918.3(PCDHGA5):c.728C>A (p.Thr243Asn)	PCDHG@, PCDHGA1 +6 more (T243N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522675	NM_018918.3(PCDHGA5):c.733T>C (p.Ser245Pro)	PCDHG@, PCDHGA1 +6 more (S245P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209959	NM_018918.3(PCDHGA5):c.845G>T (p.Arg282Leu)	PCDHG@, PCDHGA1 +6 more (R282L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209960	NM_018918.3(PCDHGA5):c.856G>A (p.Glu286Lys)	PCDHG@, PCDHGA1 +6 more (E286K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209961	NM_018918.3(PCDHGA5):c.889A>G (p.Asn297Asp)	PCDHG@, PCDHGA1 +6 more (N297D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304961	NM_018918.3(PCDHGA5):c.902T>C (p.Ile301Thr)	PCDHG@, PCDHGA1 +6 more (I301T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209962	NM_018918.3(PCDHGA5):c.904T>C (p.Ser302Pro)	PCDHG@, PCDHGA1 +6 more (S302P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241980	NM_018918.3(PCDHGA5):c.997G>C (p.Val333Leu)	PCDHG@, PCDHGA1 +6 more (V333L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304962	NM_018918.3(PCDHGA5):c.1018G>A (p.Val340Met)	PCDHG@, PCDHGA1 +6 more (V340M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304963	NM_018918.3(PCDHGA5):c.1025A>G (p.Asp342Gly)	PCDHG@, PCDHGA1 +6 more (D342G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209936	NM_018918.3(PCDHGA5):c.1110C>A (p.Ser370Arg)	PCDHG@, PCDHGA1 +6 more (S370R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547474	NM_018918.3(PCDHGA5):c.1115A>C (p.His372Pro)	PCDHG@, PCDHGA1 +6 more (H372P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209411	NM_018918.3(PCDHGA5):c.1183G>C (p.Glu395Gln)	PCDHG@, PCDHGA1 +6 more (E395Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299500	NM_018918.3(PCDHGA5):c.1193T>C (p.Val398Ala)	PCDHG@, PCDHGA1 +6 more (V398A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403843	NM_018918.3(PCDHGA5):c.1225G>T (p.Asp409Tyr)	PCDHG@, PCDHGA1 +6 more (D409Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306511	NM_018918.3(PCDHGA5):c.1235G>A (p.Arg412Lys)	PCDHG@, PCDHGA1 +6 more (R412K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535893	NM_018918.3(PCDHGA5):c.1280A>C (p.His427Pro)	PCDHG@, PCDHGA1 +6 more (H427P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589021	NM_018918.3(PCDHGA5):c.1333G>C (p.Val445Leu)	PCDHG@, PCDHGA1 +6 more (V445L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333247	NM_018918.3(PCDHGA5):c.1336A>G (p.Asn446Asp)	PCDHG@, PCDHGA1 +6 more (N446D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320004	NM_018918.3(PCDHGA5):c.1349C>T (p.Pro450Leu)	PCDHG@, PCDHGA1 +6 more (P450L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218284	NM_018918.3(PCDHGA5):c.1409C>A (p.Ser470Tyr)	PCDHG@, PCDHGA1 +6 more (S470Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209938	NM_018918.3(PCDHGA5):c.1414T>A (p.Phe472Ile)	PCDHG@, PCDHGA1 +6 more (F472I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2681468	NM_018918.3(PCDHGA5):c.1444G>A (p.Gly482Ser)	PCDHG@, PCDHGA1 +6 more (G482S)	Single nucleotide variant (missense variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2496354	NM_018918.3(PCDHGA5):c.1447G>A (p.Asp483Asn)	PCDHG@, PCDHGA1 +6 more (D483N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2236955	NM_018918.3(PCDHGA5):c.1448A>G (p.Asp483Gly)	PCDHG@, PCDHGA1 +6 more (D483G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282583	NM_018918.3(PCDHGA5):c.1453G>T (p.Ala485Ser)	PCDHG@, PCDHGA1 +6 more (A485S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403844	NM_018918.3(PCDHGA5):c.1495G>T (p.Ala499Ser)	PCDHG@, PCDHGA1 +6 more (A499S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304955	NM_018918.3(PCDHGA5):c.1553G>A (p.Arg518Lys)	PCDHG@, PCDHGA1 +6 more (R518K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209940	NM_018918.3(PCDHGA5):c.1567G>A (p.Glu523Lys)	PCDHG@, PCDHGA1 +6 more (E523K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304959	NM_018918.3(PCDHGA5):c.1619C>T (p.Pro540Leu)	PCDHG@, PCDHGA1 +6 more (P540L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304957	NM_018918.3(PCDHGA5):c.1668C>A (p.Asn556Lys)	PCDHG@, PCDHGA1 +6 more (N556K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209941	NM_018918.3(PCDHGA5):c.1676C>A (p.Thr559Lys)	PCDHG@, PCDHGA1 +6 more (T559K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209942	NM_018918.3(PCDHGA5):c.1733C>A (p.Ala578Glu)	PCDHG@, PCDHGA1 +6 more (A578E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457831	NM_018918.3(PCDHGA5):c.1749A>T (p.Glu583Asp)	PCDHG@, PCDHGA1 +6 more (E583D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331269	NM_018918.3(PCDHGA5):c.1771G>A (p.Val591Met)	PCDHG@, PCDHGA1 +6 more (V591M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655846	NM_018918.3(PCDHGA5):c.1776A>G (p.Val592=)	PCDHG@, PCDHGA1 +6 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3209943	NM_018918.3(PCDHGA5):c.1837G>A (p.Glu613Lys)	PCDHG@, PCDHGA1 +6 more (E613K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209944	NM_018918.3(PCDHGA5):c.1891G>C (p.Ala631Pro)	PCDHG@, PCDHGA1 +6 more (A631P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209945	NM_018918.3(PCDHGA5):c.1931T>A (p.Val644Glu)	PCDHG@, PCDHGA1 +6 more (V644E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407233	NM_018918.3(PCDHGA5):c.2045T>C (p.Ile682Thr)	PCDHG@, PCDHGA1 +6 more (I682T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2523487	NM_018918.3(PCDHGA5):c.2071C>T (p.Leu691Phe)	PCDHG@, PCDHGA1 +6 more (L691F)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3209946	NM_018918.3(PCDHGA5):c.2105G>A (p.Cys702Tyr)	PCDHG@, PCDHGA1 +6 more (C702Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346459	NM_018918.3(PCDHGA5):c.2107G>A (p.Val703Ile)	PCDHG@, PCDHGA1 +6 more (V703I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209948	NM_018918.3(PCDHGA5):c.2128G>C (p.Val710Leu)	PCDHG@, PCDHGA1 +6 more (V710L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592747	NM_018918.3(PCDHGA5):c.2188A>G (p.Ser730Gly)	PCDHG@, PCDHGA1 +6 more (S730G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3209949	NM_018918.3(PCDHGA5):c.2196G>T (p.Leu732Phe)	PCDHG@, PCDHGA1 +6 more (L732F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229987	NM_018918.3(PCDHGA5):c.2227G>T (p.Val743Leu)	PCDHG@, PCDHGA1 +6 more (V743L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209950	NM_018918.3(PCDHGA5):c.2233G>A (p.Gly745Arg)	PCDHG@, PCDHGA1 +6 more (G745R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401081	NM_018918.3(PCDHGA5):c.2242G>A (p.Ala748Thr)	PCDHG@, PCDHGA1 +6 more (A748T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475691	NM_018918.3(PCDHGA5):c.2273C>G (p.Ser758Cys)	PCDHG@, PCDHGA1 +6 more (S758C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362939	NM_018918.3(PCDHGA5):c.2276T>A (p.Leu759His)	PCDHG@, PCDHGA1 +6 more (L759H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236424	NM_018918.3(PCDHGA5):c.2288C>T (p.Ser763Leu)	PCDHG@, PCDHGA1 +6 more (S763L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304964	NM_018918.3(PCDHGA5):c.2320A>G (p.Asn774Asp)	PCDHG@, PCDHGA1 +6 more (N774D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209951	NM_018918.3(PCDHGA5):c.2326G>T (p.Ala776Ser)	PCDHG@, PCDHGA1 +6 more (A776S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460357	NM_018918.3(PCDHGA5):c.2350A>T (p.Ser784Cys)	PCDHG@, PCDHGA1 +6 more (S784C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331543	NM_018918.3(PCDHGA5):c.2390T>C (p.Val797Ala)	PCDHG@, PCDHGA1 +6 more (V797A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209952	NM_018918.3(PCDHGA5):c.2411G>A (p.Arg804Gln)	PCDHG@, PCDHGA1 +6 more (R804Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486767	NM_018924.5(PCDHGB3):c.32C>T (p.Ala11Val)	PCDHG@, PCDHGA1 +7 more (A11V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210052	NM_018924.5(PCDHGB3):c.47T>C (p.Met16Thr)	PCDHG@, PCDHGA1 +7 more (M16T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544773	NM_018924.5(PCDHGB3):c.120G>T (p.Glu40Asp)	PCDHG@, PCDHGA1 +7 more (E40D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622300	NM_018924.5(PCDHGB3):c.250T>A (p.Leu84Ile)	PCDHG@, PCDHGA1 +7 more (L84I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388541	NM_018924.5(PCDHGB3):c.266G>T (p.Arg89Leu)	PCDHGA3, PCDHGA4 +7 more (R89L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338008	NM_018924.5(PCDHGB3):c.275G>T (p.Arg92Leu)	PCDHG@, PCDHGA1 +7 more (R92L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593656	NM_018924.5(PCDHGB3):c.299C>G (p.Ser100Trp)	PCDHG@, PCDHGA1 +7 more (S100W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274408	NM_018924.5(PCDHGB3):c.311T>C (p.Leu104Pro)	PCDHG@, PCDHGA1 +7 more (L104P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305025	NM_018924.5(PCDHGB3):c.338C>T (p.Pro113Leu)	PCDHG@, PCDHGA1 +7 more (P113L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372350	NM_018924.5(PCDHGB3):c.410T>C (p.Ile137Thr)	PCDHG@, PCDHGA1 +7 more (I137T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226611	NM_018924.5(PCDHGB3):c.536C>T (p.Ser179Phe)	PCDHG@, PCDHGA1 +7 more (S179F)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3210053	NM_018924.5(PCDHGB3):c.579G>T (p.Glu193Asp)	PCDHG@, PCDHGA1 +7 more (E193D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210054	NM_018924.5(PCDHGB3):c.676A>G (p.Thr226Ala)	PCDHG@, PCDHGA1 +7 more (T226A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305022	NM_018924.5(PCDHGB3):c.751G>A (p.Val251Ile)	PCDHG@, PCDHGA1 +7 more (V251I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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