ClinVar for Gene (Select 57575) - ClinVar

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Links from Gene

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3304561	NM_032961.3(PCDH10):c.146C>T (p.Ser49Leu)	PCDH10 (S49L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304560	NM_032961.3(PCDH10):c.288G>C (p.Glu96Asp)	PCDH10 (E96D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304559	NM_032961.3(PCDH10):c.637G>A (p.Gly213Arg)	PCDH10 (G213R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304558	NM_032961.3(PCDH10):c.1340A>G (p.Lys447Arg)	PCDH10 (K447R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304556	NM_032961.3(PCDH10):c.3057T>A (p.Asp1019Glu)	PCDH10 (D1019E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304555	NM_032961.3(PCDH10):c.2624C>T (p.Ser875Phe)	PCDH10 (S875F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304554	NM_032961.3(PCDH10):c.2550C>G (p.His850Gln)	PCDH10 (H850Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304553	NM_032961.3(PCDH10):c.469C>A (p.Arg157Ser)	PCDH10 (R157S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304552	NM_032961.3(PCDH10):c.2681G>A (p.Arg894Gln)	PCDH10 (R894Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304551	NM_032961.3(PCDH10):c.2399C>G (p.Ala800Gly)	PCDH10 (A800G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209125	NM_032961.3(PCDH10):c.751G>C (p.Asp251His)	PCDH10 (D251H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209124	NM_032961.3(PCDH10):c.677C>G (p.Pro226Arg)	PCDH10 (P226R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209123	NM_032961.3(PCDH10):c.625G>A (p.Gly209Arg)	PCDH10 (G209R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209121	NM_032961.3(PCDH10):c.3074C>T (p.Thr1025Met)	PCDH10 (T1025M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209120	NM_032961.3(PCDH10):c.2645G>A (p.Arg882Gln)	PCDH10 (R882Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209119	NM_032961.3(PCDH10):c.2536A>C (p.Thr846Pro)	PCDH10 (T846P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209118	NM_032961.3(PCDH10):c.2451G>T (p.Gln817His)	PCDH10 (Q817H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209117	NM_032961.3(PCDH10):c.2395C>G (p.Pro799Ala)	PCDH10 (P799A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209116	NM_032961.3(PCDH10):c.2156T>A (p.Ile719Asn)	PCDH10 (I719N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209115	NM_032961.3(PCDH10):c.1969G>A (p.Val657Met)	PCDH10 (V657M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209114	NM_032961.3(PCDH10):c.1872C>G (p.Asn624Lys)	PCDH10 (N624K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209113	NM_032961.3(PCDH10):c.1790G>T (p.Gly597Val)	PCDH10 (G597V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209112	NM_032961.3(PCDH10):c.1675A>G (p.Thr559Ala)	PCDH10 (T559A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209111	NM_032961.3(PCDH10):c.1598A>G (p.Tyr533Cys)	PCDH10 (Y533C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209110	NM_032961.3(PCDH10):c.1502C>T (p.Ser501Phe)	PCDH10 (S501F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209109	NM_032961.3(PCDH10):c.1306C>T (p.Arg436Trp)	PCDH10 (R436W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209107	NM_032961.3(PCDH10):c.1300G>C (p.Val434Leu)	PCDH10 (V434L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209106	NM_032961.3(PCDH10):c.107A>G (p.Asn36Ser)	PCDH10 (N36S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209105	NM_032961.3(PCDH10):c.1063G>A (p.Ala355Thr)	PCDH10 (A355T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	SPOCK3, SPRY1 +153 more	Copy number gain	not provided	GPathogenic
Select item 2614930	NM_032961.3(PCDH10):c.61C>T (p.His21Tyr)	PCDH10 (H21Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609939	NM_032961.3(PCDH10):c.1831G>A (p.Gly611Ser)	PCDH10 (G611S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607461	NM_032961.3(PCDH10):c.1727C>A (p.Ala576Glu)	PCDH10 (A576E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559017	NM_032961.3(PCDH10):c.677C>T (p.Pro226Leu)	PCDH10 (P226L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554522	NM_032961.3(PCDH10):c.1117C>G (p.Pro373Ala)	PCDH10 (P373A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540259	NM_032961.3(PCDH10):c.529G>A (p.Gly177Ser)	PCDH10 (G177S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539891	NM_032961.3(PCDH10):c.1249A>G (p.Thr417Ala)	PCDH10 (T417A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536374	NM_032961.3(PCDH10):c.1785G>T (p.Glu595Asp)	PCDH10 (E595D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496352	NM_032961.3(PCDH10):c.2539G>T (p.Asp847Tyr)	PCDH10 (D847Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460369	NM_032961.3(PCDH10):c.2006C>T (p.Ser669Phe)	PCDH10 (S669F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395014	NM_032961.3(PCDH10):c.845A>G (p.Asn282Ser)	PCDH10 (N282S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389028	NM_032961.3(PCDH10):c.1259C>T (p.Pro420Leu)	PCDH10 (P420L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381967	NM_032961.3(PCDH10):c.1442A>T (p.Tyr481Phe)	PCDH10 (Y481F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380799	NM_032961.3(PCDH10):c.1469G>T (p.Arg490Leu)	PCDH10 (R490L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360164	NM_032961.3(PCDH10):c.1396C>T (p.Pro466Ser)	PCDH10 (P466S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333780	NM_032961.3(PCDH10):c.2195C>T (p.Ala732Val)	PCDH10 (A732V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329075	NM_032961.3(PCDH10):c.2837C>G (p.Ala946Gly)	PCDH10 (A946G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309662	NM_032961.3(PCDH10):c.2104C>G (p.Pro702Ala)	PCDH10 (P702A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308460	NM_032961.3(PCDH10):c.2090G>A (p.Gly697Glu)	PCDH10 (G697E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294635	NM_032961.3(PCDH10):c.1438G>A (p.Ala480Thr)	PCDH10 (A480T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282809	NM_032961.3(PCDH10):c.2381A>G (p.Asn794Ser)	PCDH10 (N794S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282381	NM_032961.3(PCDH10):c.1457G>A (p.Ser486Asn)	PCDH10 (S486N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264088	NM_032961.3(PCDH10):c.911C>T (p.Ser304Leu)	PCDH10 (S304L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241291	NM_032961.3(PCDH10):c.34A>T (p.Met12Leu)	PCDH10 (M12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223132	NM_032961.3(PCDH10):c.2272C>T (p.Leu758Phe)	PCDH10 (L758F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219733	NM_032961.3(PCDH10):c.2232G>T (p.Lys744Asn)	PCDH10 (K744N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1328453	GRCh37/hg19 4q26-28.3(chr4:114872547-138005267)x1	TNIP3, TRPC3 +48 more	Copy number loss	not provided	GPathogenic
Select item 1180544	GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3	ETFDH, FAM218A +108 more	Copy number gain	not provided	GPathogenic
Select item 980139	GRCh37/hg19 4q28.3(chr4:133874103-138426933)x1	PCDH10, PABPC4L	Copy number loss	not provided	GUncertain significance
Select item 794526	NM_032961.3(PCDH10):c.2690+9T>C	PCDH10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 792316	NM_032961.3(PCDH10):c.768T>C (p.Thr256=)	PCDH10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 774617	NM_032961.3(PCDH10):c.2411T>C (p.Ile804Thr)	PCDH10 (I804T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 743093	NM_032961.3(PCDH10):c.2013C>G (p.Thr671=)	PCDH10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 740623	NM_032961.3(PCDH10):c.1290C>A (p.Thr430=)	PCDH10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 737970	NM_032961.3(PCDH10):c.1377C>T (p.Asn459=)	PCDH10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 731715	NM_032961.3(PCDH10):c.570C>T (p.Asp190=)	PCDH10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 730296	NM_032961.3(PCDH10):c.1283C>T (p.Ser428Phe)	PCDH10 (S428F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 729743	NM_032961.3(PCDH10):c.978G>A (p.Val326=)	PCDH10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 715498	NM_032961.3(PCDH10):c.1548T>G (p.Val516=)	PCDH10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 713855	NM_032961.3(PCDH10):c.2931C>G (p.Gly977=)	PCDH10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
Select item 686985	GRCh37/hg19 4q28.3-31.21(chr4:134054911-142601496)x1	CLGN, ELF2 +20 more	Copy number loss	not provided	GUncertain significance
Select item 686457	GRCh37/hg19 4q28.3(chr4:133993419-134954024)x3	PCDH10	Copy number gain	not provided	GUncertain significance
Select item 562969	GRCh37/hg19 4q28.3(chr4:132890351-135831973)x3	PABPC4L, PCDH10	Copy number gain	not provided	GUncertain significance
Select item 560144	Single allele	ABHD18, C4orf33 +24 more	Deletion	not provided	GPathogenic
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	CFAP97, CFI +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic
Select item 155140	GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1	ABHD18, ADAD1 +254 more	Copy number loss	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	LOC129993132, LOC129993133 +420 more	Copy number loss	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 57367	GRCh38/hg38 4q28.2-31.21(chr4:128119872-142431375)x1	LINC02479, LINC02485 +185 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 94