PCDHA7[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 2395415	NM_018910.3(PCDHA7):c.4G>A (p.Val2Met)	PCDHA1, PCDHA2 +6 more (V2M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209466	NM_018910.3(PCDHA7):c.178G>A (p.Val60Met)	PCDHA1, PCDHA2 +6 more (V60M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209470	NM_018910.3(PCDHA7):c.254T>C (p.Phe85Ser)	PCDHA1, PCDHA2 +6 more (F85S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593935	NM_018910.3(PCDHA7):c.274C>A (p.Arg92Ser)	PCDHA1, PCDHA2 +6 more (R92S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300271	NM_018910.3(PCDHA7):c.283C>G (p.Leu95Val)	PCDHA1, PCDHA2 +6 more (L95V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304730	NM_018910.3(PCDHA7):c.307A>G (p.Ser103Gly)	PCDHA1, PCDHA2 +6 more (S103G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618019	NM_018910.3(PCDHA7):c.332A>T (p.Glu111Val)	PCDHA1, PCDHA2 +6 more (E111V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304725	NM_018910.3(PCDHA7):c.427G>T (p.Ala143Ser)	PCDHA1, PCDHA2 +6 more (A143S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320594	NM_018910.3(PCDHA7):c.572C>T (p.Pro191Leu)	PCDHA1, PCDHA2 +6 more (P191L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655763	NM_018910.3(PCDHA7):c.645C>T (p.Thr215=)	PCDHA1, PCDHA2 +6 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2560395	NM_018910.3(PCDHA7):c.867A>G (p.Ile289Met)	PCDHA1, PCDHA2 +6 more (I289M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209471	NM_018910.3(PCDHA7):c.899G>T (p.Gly300Val)	PCDHA1, PCDHA2 +6 more (G300V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209472	NM_018910.3(PCDHA7):c.923T>C (p.Met308Thr)	PCDHA1, PCDHA2 +6 more (M308T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610589	NM_018910.3(PCDHA7):c.955C>T (p.Pro319Ser)	PCDHA1, PCDHA2 +6 more (P319S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246767	NM_018910.3(PCDHA7):c.1054C>G (p.Leu352Val)	PCDHA1, PCDHA2 +6 more (L352V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3304729	NM_018910.3(PCDHA7):c.1075A>G (p.Ile359Val)	PCDHA2, PCDHA3 +6 more (I359V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2216173	NM_018910.3(PCDHA7):c.1102G>T (p.Val368Phe)	PCDHA1, PCDHA2 +6 more (V368F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253648	NM_018910.3(PCDHA7):c.1137T>G (p.Phe379Leu)	PCDHA1, PCDHA2 +6 more (F379L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209458	NM_018910.3(PCDHA7):c.1147G>C (p.Gly383Arg)	PCDHA1, PCDHA2 +6 more (G383R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209459	NM_018910.3(PCDHA7):c.1185C>G (p.Phe395Leu)	PCDHA1, PCDHA2 +6 more (F395L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267816	NM_018910.3(PCDHA7):c.1188G>T (p.Lys396Asn)	PCDHA1, PCDHA2 +6 more (K396N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320398	NM_018910.3(PCDHA7):c.1306T>C (p.Trp436Arg)	PCDHA1, PCDHA2 +6 more (W436R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491341	NM_018910.3(PCDHA7):c.1384G>A (p.Val462Met)	PCDHA1, PCDHA2 +6 more (V462M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655764	NM_018910.3(PCDHA7):c.1414T>C (p.Cys472Arg)	PCDHA1, PCDHA2 +6 more (C472R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2615470	NM_018910.3(PCDHA7):c.1415G>C (p.Cys472Ser)	PCDHA1, PCDHA2 +6 more (C472S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555749	NM_018910.3(PCDHA7):c.1438G>A (p.Gly480Arg)	PCDHA1, PCDHA2 +6 more (G480R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3304728	NM_018910.3(PCDHA7):c.1441G>A (p.Asp481Asn)	PCDHA1, PCDHA2 +6 more (D481N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304727	NM_018910.3(PCDHA7):c.1468G>C (p.Val490Leu)	PCDHA1, PCDHA2 +6 more (V490L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372224	NM_018910.3(PCDHA7):c.1495G>T (p.Val499Leu)	PCDHA1, PCDHA2 +6 more (V499L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409682	NM_018910.3(PCDHA7):c.1498G>A (p.Gly500Ser)	PCDHA1, PCDHA2 +6 more (G500S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259220	NM_018910.3(PCDHA7):c.1503G>T (p.Glu501Asp)	PCDHA1, PCDHA2 +6 more (E501D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209460	NM_018910.3(PCDHA7):c.1508C>T (p.Ala503Val)	PCDHA1, PCDHA2 +6 more (A503V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209461	NM_018910.3(PCDHA7):c.1592T>G (p.Leu531Trp)	PCDHA1, PCDHA2 +6 more (L531W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304724	NM_018910.3(PCDHA7):c.1615G>A (p.Asp539Asn)	PCDHA1, PCDHA2 +6 more (D539N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655765	NM_018910.3(PCDHA7):c.1617T>C (p.Asp539=)	PCDHA1, PCDHA2 +6 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2523992	NM_018910.3(PCDHA7):c.1671C>A (p.Asp557Glu)	PCDHA1, PCDHA2 +6 more (D557E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209462	NM_018910.3(PCDHA7):c.1685C>T (p.Ala562Val)	PCDHA1, PCDHA2 +6 more (A562V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480224	NM_018910.3(PCDHA7):c.1688C>T (p.Pro563Leu)	PCDHA1, PCDHA2 +6 more (P563L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360902	NM_018910.3(PCDHA7):c.1700C>A (p.Ala567Glu)	PCDHA1, PCDHA2 +6 more (A567E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410383	NM_018910.3(PCDHA7):c.1711G>A (p.Gly571Ser)	PCDHA1, PCDHA2 +6 more (G571S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209464	NM_018910.3(PCDHA7):c.1712G>A (p.Gly571Asp)	PCDHA1, PCDHA2 +6 more (G571D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272830	NM_018910.3(PCDHA7):c.1737G>C (p.Glu579Asp)	PCDHA1, PCDHA2 +6 more (E579D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507602	NM_018910.3(PCDHA7):c.1739T>C (p.Leu580Pro)	PCDHA1, PCDHA2 +6 more (L580P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389931	NM_018910.3(PCDHA7):c.1760C>T (p.Ala587Val)	PCDHA1, PCDHA2 +6 more (A587V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321281	NM_018910.3(PCDHA7):c.1760C>A (p.Ala587Glu)	PCDHA1, PCDHA2 +6 more (A587E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209465	NM_018910.3(PCDHA7):c.1784G>T (p.Arg595Leu)	PCDHA1, PCDHA2 +6 more (R595L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209467	NM_018910.3(PCDHA7):c.1833G>C (p.Leu611Phe)	PCDHA1, PCDHA2 +6 more (L611F)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2509826	NM_018910.3(PCDHA7):c.1924G>A (p.Ala642Thr)	PCDHA1, PCDHA2 +6 more (A642T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396692	NM_018910.3(PCDHA7):c.1975C>G (p.Leu659Val)	PCDHA1, PCDHA2 +6 more (L659V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209468	NM_018910.3(PCDHA7):c.2016C>A (p.Ser672Arg)	PCDHA1, PCDHA2 +6 more (S672R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591927	NM_018910.3(PCDHA7):c.2036C>G (p.Ser679Trp)	PCDHA1, PCDHA2 +6 more (S679W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338400	NM_018910.3(PCDHA7):c.2039C>G (p.Ser680Trp)	PCDHA1, PCDHA2 +6 more (S680W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403048	NM_018910.3(PCDHA7):c.2045C>T (p.Ala682Val)	PCDHA1, PCDHA2 +6 more (A682V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493786	NM_018910.3(PCDHA7):c.2075A>T (p.Glu692Val)	PCDHA1, PCDHA2 +6 more (E692V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209469	NM_018910.3(PCDHA7):c.2117C>A (p.Ala706Glu)	PCDHA1, PCDHA2 +6 more (A706E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327466	NM_018910.3(PCDHA7):c.2189G>A (p.Gly730Asp)	PCDHA1, PCDHA2 +6 more (G730D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278464	NM_018910.3(PCDHA7):c.2194T>C (p.Cys732Arg)	PCDHA1, PCDHA2 +6 more (C732R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398794	NM_018910.3(PCDHA7):c.2203G>T (p.Val735Leu)	PCDHA1, PCDHA2 +6 more (V735L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615897	NM_018910.3(PCDHA7):c.2275T>G (p.Cys759Gly)	PCDHA1, PCDHA2 +6 more (C759G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304731	NM_018910.3(PCDHA7):c.2293C>A (p.Pro765Thr)	PCDHA1, PCDHA2 +6 more (P765T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304726	NM_018910.3(PCDHA7):c.2344T>A (p.Ser782Thr)	PCDHA1, PCDHA2 +6 more (S782T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247704	NM_018910.3(PCDHA7):c.2345C>G (p.Ser782Cys)	PCDHA1, PCDHA2 +6 more (S782C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655766	NM_018911.3(PCDHA8):c.4G>A (p.Asp2Asn)	PCDHA1, PCDHA2 +7 more (D2N)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3209491	NM_018911.3(PCDHA8):c.38G>T (p.Arg13Leu)	PCDHA1, PCDHA2 +7 more (R13L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364587	NM_018911.3(PCDHA8):c.56T>C (p.Leu19Pro)	PCDHA1, PCDHA2 +7 more (L19P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554806	NM_018911.3(PCDHA8):c.123C>A (p.His41Gln)	PCDHA1, PCDHA2 +7 more (H41Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513249	NM_018911.3(PCDHA8):c.170C>A (p.Ala57Glu)	PCDHA1, PCDHA2 +7 more (A57E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346860	NM_018911.3(PCDHA8):c.214C>G (p.Arg72Gly)	PCDHA1, PCDHA2 +7 more (R72G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3209489	NM_018911.3(PCDHA8):c.239A>G (p.Gln80Arg)	PCDHA1, PCDHA2 +7 more (Q80R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388115	NM_018911.3(PCDHA8):c.256G>A (p.Val86Met)	PCDHA1, PCDHA2 +7 more (V86M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590618	NM_018911.3(PCDHA8):c.275G>T (p.Arg92Leu)	PCDHA1, PCDHA2 +7 more (R92L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316963	NM_018911.3(PCDHA8):c.290G>A (p.Gly97Glu)	PCDHA1, PCDHA2 +7 more (G97E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304742	NM_018911.3(PCDHA8):c.301G>A (p.Glu101Lys)	PCDHA1, PCDHA2 +7 more (E101K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387056	NM_018911.3(PCDHA8):c.320A>T (p.Glu107Val)	PCDHA1, PCDHA2 +7 more (E107V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209490	NM_018911.3(PCDHA8):c.352C>T (p.His118Tyr)	PCDHA1, PCDHA2 +7 more (H118Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532492	NM_018911.3(PCDHA8):c.455T>G (p.Phe152Cys)	PCDHA1, PCDHA2 +7 more (F152C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270870	NM_018911.3(PCDHA8):c.496T>G (p.Ser166Ala)	PCDHA1, PCDHA2 +7 more (S166A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2290741	NM_018911.3(PCDHA8):c.612C>A (p.Asp204Glu)	PCDHA1, PCDHA2 +7 more (D204E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2299499	NM_018911.3(PCDHA8):c.644C>T (p.Thr215Ile)	PCDHA1, PCDHA2 +7 more (T215I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209492	NM_018911.3(PCDHA8):c.718C>T (p.Pro240Ser)	PCDHA1, PCDHA2 +7 more (P240S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304740	NM_018911.3(PCDHA8):c.727G>C (p.Glu243Gln)	PCDHA1, PCDHA2 +7 more (E243Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655767	NM_018911.3(PCDHA8):c.780A>G (p.Thr260=)	PCDHA1, PCDHA2 +7 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3304735	NM_018911.3(PCDHA8):c.835T>G (p.Tyr279Asp)	PCDHA1, PCDHA2 +7 more (Y279D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345067	NM_018911.3(PCDHA8):c.857A>C (p.Glu286Ala)	PCDHA1, PCDHA2 +7 more (E286A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2345068	NM_018911.3(PCDHA8):c.859A>G (p.Thr287Ala)	PCDHA1, PCDHA2 +7 more (T287A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209493	NM_018911.3(PCDHA8):c.965C>T (p.Ala322Val)	PCDHA1, PCDHA2 +7 more (A322V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655768	NM_018911.3(PCDHA8):c.1020T>C (p.Ile340=)	PCDHA6, PCDHA7 +7 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3209473	NM_018911.3(PCDHA8):c.1202T>A (p.Phe401Tyr)	PCDHA1, PCDHA2 +7 more (F401Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338484	NM_018911.3(PCDHA8):c.1234G>T (p.Ala412Ser)	PCDHA1, PCDHA2 +7 more (A412S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607187	NM_018911.3(PCDHA8):c.1259C>G (p.Ala420Gly)	PCDHA1, PCDHA2 +7 more (A420G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302456	NM_018911.3(PCDHA8):c.1292G>T (p.Gly431Val)	PCDHA1, PCDHA2 +7 more (G431V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521068	NM_018911.3(PCDHA8):c.1316C>T (p.Ala439Val)	PCDHA1, PCDHA2 +7 more (A439V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304734	NM_018911.3(PCDHA8):c.1342G>A (p.Val448Met)	PCDHA7, PCDHA@ +7 more (V448M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304743	NM_018911.3(PCDHA8):c.1360G>T (p.Ala454Ser)	PCDHA1, PCDHA2 +7 more (A454S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209474	NM_018911.3(PCDHA8):c.1376A>T (p.Glu459Val)	PCDHA1, PCDHA2 +7 more (E459V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209475	NM_018911.3(PCDHA8):c.1390G>C (p.Val464Leu)	PCDHA1, PCDHA2 +7 more (V464L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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