PCDHB12[gene] - ClinVar

Search results

Items: 93

	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 58791	GRCh38/hg38 5q31.3(chr5:141185055-141211630)x1	PCDHB10, PCDHB11 +4 more	Copy number loss	See cases	GUncertain significance
Select item 2528551	NM_018932.4(PCDHB12):c.32T>C (p.Ile11Thr)	PCDHB12, PCDHB@ (I11T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3304808	NM_018932.4(PCDHB12):c.67A>G (p.Met23Val)	PCDHB12, PCDHB@ (M23V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478374	NM_018932.4(PCDHB12):c.69G>A (p.Met23Ile)	PCDHB12, PCDHB@ (M23I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318067	NM_018932.4(PCDHB12):c.82T>C (p.Ser28Pro)	PCDHB12, PCDHB@ (S28P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281240	NM_018932.4(PCDHB12):c.109G>A (p.Glu37Lys)	PCDHB12, PCDHB@ (E37K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244299	NM_018932.4(PCDHB12):c.129C>A (p.Ser43Arg)	PCDHB12, PCDHB@ (S43R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315665	NM_018932.4(PCDHB12):c.142T>G (p.Leu48Val)	PCDHB12, PCDHB@ (L48V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209608	NM_018932.4(PCDHB12):c.157G>A (p.Gly53Arg)	PCDHB12, PCDHB@ (G53R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255159	NM_018932.4(PCDHB12):c.210T>A (p.Asp70Glu)	PCDHB12, PCDHB@ (D70E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374337	NM_018932.4(PCDHB12):c.247G>T (p.Asp83Tyr)	PCDHB12, PCDHB@ (D83Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523674	NM_018932.4(PCDHB12):c.322G>T (p.Val108Leu)	PCDHB12, PCDHB@ (V108L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209619	NM_018932.4(PCDHB12):c.329T>A (p.Met110Lys)	PCDHB12, PCDHB@ (M110K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256284	NM_018932.4(PCDHB12):c.465A>C (p.Glu155Asp)	PCDHB12, PCDHB@ (E155D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365918	NM_018932.4(PCDHB12):c.537C>A (p.His179Gln)	PCDHB12, PCDHB@ (H179Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209620	NM_018932.4(PCDHB12):c.548G>A (p.Arg183Lys)	PCDHB12, PCDHB@ (R183K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209621	NM_018932.4(PCDHB12):c.583G>A (p.Val195Ile)	PCDHB12, PCDHB@ (V195I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332970	NM_018932.4(PCDHB12):c.598C>A (p.Leu200Met)	PCDHB12, PCDHB@ (L200M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558865	NM_018932.4(PCDHB12):c.613C>T (p.Arg205Cys)	PCDHB12, PCDHB@ (R205C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323168	NM_018932.4(PCDHB12):c.616C>A (p.Pro206Thr)	PCDHB12, PCDHB@ (P206T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233928	NM_018932.4(PCDHB12):c.682G>A (p.Val228Ile)	PCDHB12, PCDHB@ (V228I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354585	NM_018932.4(PCDHB12):c.815G>T (p.Gly272Val)	PCDHB12, PCDHB@ (G272V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365273	NM_018932.4(PCDHB12):c.823A>G (p.Ser275Gly)	PCDHB12, PCDHB@ (S275G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2365274	NM_018932.4(PCDHB12):c.829C>A (p.Leu277Ile)	PCDHB12, PCDHB@ (L277I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2365275	NM_018932.4(PCDHB12):c.833C>G (p.Ser278Cys)	PCDHB12, PCDHB@ (S278C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592071	NM_018932.4(PCDHB12):c.844T>C (p.Ser282Pro)	PCDHB12, PCDHB@ (S282P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344504	NM_018932.4(PCDHB12):c.904A>C (p.Thr302Pro)	PCDHB12, PCDHB@ (T302P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352489	NM_018932.4(PCDHB12):c.916C>T (p.Pro306Ser)	PCDHB12, PCDHB@ (P306S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2486865	NM_018932.4(PCDHB12):c.971G>A (p.Gly324Glu)	PCDHB12, PCDHB@ (G324E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549874	NM_018932.4(PCDHB12):c.974G>A (p.Gly325Glu)	PCDHB12, PCDHB@ (G325E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618924	NM_018932.4(PCDHB12):c.1001G>T (p.Arg334Ile)	PCDHB12, PCDHB@ (R334I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304807	NM_018932.4(PCDHB12):c.1075A>G (p.Asn359Asp)	PCDHB12, PCDHB@ (N359D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655832	NM_018932.4(PCDHB12):c.1086G>A (p.Glu362=)	PCDHB12, PCDHB@	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3209604	NM_018932.4(PCDHB12):c.1088C>T (p.Thr363Ile)	PCDHB12, PCDHB@ (T363I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304810	NM_018932.4(PCDHB12):c.1098G>T (p.Met366Ile)	PCDHB12, PCDHB@ (M366I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617123	NM_018932.4(PCDHB12):c.1117A>G (p.Arg373Gly)	PCDHB12, PCDHB@ (R373G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352316	NM_018932.4(PCDHB12):c.1148G>T (p.Cys383Phe)	PCDHB12, PCDHB@ (C383F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304805	NM_018932.4(PCDHB12):c.1156C>A (p.Pro386Thr)	PCDHB12, PCDHB@ (P386T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227736	NM_018932.4(PCDHB12):c.1202A>G (p.Tyr401Cys)	PCDHB12, PCDHB@ (Y401C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310812	NM_018932.4(PCDHB12):c.1222C>A (p.Pro408Thr)	PCDHB12, PCDHB@ (P408T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2590977	NM_018932.4(PCDHB12):c.1238G>C (p.Ser413Thr)	PCDHB12, PCDHB@ (S413T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617952	NM_018932.4(PCDHB12):c.1291C>G (p.Leu431Val)	PCDHB12, PCDHB@ (L431V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338702	NM_018932.4(PCDHB12):c.1307A>G (p.Asn436Ser)	PCDHB12, PCDHB@ (N436S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209605	NM_018932.4(PCDHB12):c.1310T>C (p.Ile437Thr)	PCDHB12, PCDHB@ (I437T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250149	NM_018932.4(PCDHB12):c.1331T>C (p.Val444Ala)	PCDHB12, PCDHB@ (V444A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209607	NM_018932.4(PCDHB12):c.1348G>A (p.Ala450Thr)	PCDHB12, PCDHB@ (A450T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395879	NM_018932.4(PCDHB12):c.1410C>G (p.Ile470Met)	PCDHB12, PCDHB@ (I470M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252823	NM_018932.4(PCDHB12):c.1431C>A (p.Asp477Glu)	PCDHB12, PCDHB@ (D477E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367885	NM_018932.4(PCDHB12):c.1522G>A (p.Ala508Thr)	PCDHB12, PCDHB@ (A508T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242160	NM_018932.4(PCDHB12):c.1534C>T (p.His512Tyr)	PCDHB12, PCDHB@ (H512Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304811	NM_018932.4(PCDHB12):c.1576G>A (p.Gly526Arg)	PCDHB12, PCDHB@ (G526R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209609	NM_018932.4(PCDHB12):c.1588C>T (p.Arg530Cys)	PCDHB12, PCDHB@ (R530C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322658	NM_018932.4(PCDHB12):c.1591G>A (p.Val531Met)	PCDHB12, PCDHB@ (V531M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209610	NM_018932.4(PCDHB12):c.1607A>T (p.His536Leu)	PCDHB12, PCDHB@ (H536L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331268	NM_018932.4(PCDHB12):c.1622T>C (p.Leu541Ser)	PCDHB12, PCDHB@ (L541S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463651	NM_018932.4(PCDHB12):c.1775T>C (p.Val592Ala)	PCDHB12, PCDHB@ (V592A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249506	NM_018932.4(PCDHB12):c.1801T>C (p.Trp601Arg)	PCDHB12, PCDHB@ (W601R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209611	NM_018932.4(PCDHB12):c.1856C>T (p.Ala619Val)	PCDHB12, PCDHB@ (A619V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519795	NM_018932.4(PCDHB12):c.1913A>G (p.His638Arg)	PCDHB12, PCDHB@ (H638R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209612	NM_018932.4(PCDHB12):c.1930G>A (p.Val644Ile)	PCDHB12, PCDHB@ (V644I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209613	NM_018932.4(PCDHB12):c.1943G>A (p.Gly648Asp)	PCDHB12, PCDHB@ (G648D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209614	NM_018932.4(PCDHB12):c.1961C>A (p.Ala654Asp)	PCDHB12, PCDHB@ (A654D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454979	NM_018932.4(PCDHB12):c.1985T>C (p.Leu662Pro)	PCDHB12, PCDHB@ (L662P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304343	NM_018932.4(PCDHB12):c.2006C>A (p.Pro669His)	PCDHB12, PCDHB@ (P669H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357212	NM_018932.4(PCDHB12):c.2035G>A (p.Ala679Thr)	PCDHB12, PCDHB@ (A679T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304806	NM_018932.4(PCDHB12):c.2107T>C (p.Phe703Leu)	PCDHB12, PCDHB@ (F703L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3209615	NM_018932.4(PCDHB12):c.2131G>C (p.Val711Leu)	PCDHB12, PCDHB@ (V711L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278776	NM_018932.4(PCDHB12):c.2138T>A (p.Leu713Gln)	PCDHB12, PCDHB@ (L713Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351237	NM_018932.4(PCDHB12):c.2144G>A (p.Arg715Lys)	PCDHB12, PCDHB@ (R715K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594613	NM_018932.4(PCDHB12):c.2158G>A (p.Ala720Thr)	PCDHB12, PCDHB@ (A720T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304809	NM_018932.4(PCDHB12):c.2183C>A (p.Pro728His)	PCDHB12, PCDHB@ (P728H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209616	NM_018932.4(PCDHB12):c.2221G>A (p.Gly741Ser)	PCDHB12, PCDHB@ (G741S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209617	NM_018932.4(PCDHB12):c.2278A>G (p.Arg760Gly)	PCDHB12, PCDHB@ (R760G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2488644	NM_018932.4(PCDHB12):c.2285A>G (p.Asn762Ser)	PCDHB12, PCDHB@ (N762S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1808769	GRCh37/hg19 5q31.3(chr5:140082762-140773954)x3	PCDHA1, PCDHA10 +49 more	Copy number gain	not provided	GUncertain significance
Select item 1020265	NC_000005.9:g.(?_136633338)_(140998481_?)dup	APBB3, BRD8 +116 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 687529	GRCh37/hg19 5q31.3-32(chr5:140424333-148985999)x3	ABLIM3, ADRB2 +92 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563111	GRCh37/hg19 5q31.2-31.3(chr5:139147238-141540491)x1	PCDHA13, PCDHGB5 +92 more	Copy number loss	not provided	GPathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	CCDC69, CCNH +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 395109	GRCh37/hg19 5q31.3(chr5:140581626-140589370)x3	PCDHB11, PCDHB12 +1 more	Copy number gain	See cases	GBenign/Likely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 394093	GRCh37/hg19 5q31.3(chr5:140581626-140593602)x3	PCDHB11, PCDHB12 +2 more	Copy number gain	See cases	GBenign

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Items: 93