ClinVar for Gene (Select 56134) - ClinVar

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Links from Gene

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3304774	NM_018899.6(PCDHAC2):c.96G>C (p.Leu32Phe)	PCDHA1, PCDHA10 +14 more (L32F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304772	NM_018899.6(PCDHAC2):c.1924A>G (p.Ile642Val)	PCDHA1, PCDHA10 +14 more (I642V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304771	NM_018899.6(PCDHAC2):c.906C>G (p.Asp302Glu)	PCDHA1, PCDHA10 +14 more (D302E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304770	NM_018899.6(PCDHAC2):c.2285A>G (p.Asn762Ser)	PCDHA1, PCDHA10 +14 more (N762S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304769	NM_018899.6(PCDHAC2):c.2452G>A (p.Gly818Arg)	PCDHA1, PCDHA10 +14 more (G818R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304768	NM_018899.6(PCDHAC2):c.2428A>G (p.Asn810Asp)	PCDHA1, PCDHA10 +14 more (N810D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304767	NM_018899.6(PCDHAC2):c.2023G>A (p.Ala675Thr)	PCDHA1, PCDHA10 +14 more (A675T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209536	NM_018899.6(PCDHAC2):c.710G>T (p.Arg237Leu)	PCDHA1, PCDHA10 +14 more (R237L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209535	NM_018899.6(PCDHAC2):c.314T>C (p.Ile105Thr)	PCDHA1, PCDHA10 +14 more (I105T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209534	NM_018899.6(PCDHAC2):c.2206G>A (p.Ala736Thr)	PCDHA1, PCDHA10 +14 more (A736T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209533	NM_018899.6(PCDHAC2):c.2096G>A (p.Arg699Gln)	PCDHA1, PCDHA10 +14 more (R699Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209532	NM_018899.6(PCDHAC2):c.196G>C (p.Gly66Arg)	PCDHA1, PCDHA10 +14 more (G66R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209531	NM_018899.6(PCDHAC2):c.1514C>T (p.Thr505Ile)	PCDHA1, PCDHA10 +14 more (T505I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209530	NM_018899.6(PCDHAC2):c.129G>C (p.Gln43His)	PCDHA1, PCDHA10 +14 more (Q43H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3044886	NM_018904.3(PCDHA13):c.2802C>T (p.Thr934=)	PCDHA1, PCDHA10 +15 more	Single nucleotide variant (synonymous variant)	PCDHA13-related disorder	GBenign
Select item 3044804	NM_018904.3(PCDHA13):c.2543-9_2543-8del	PCDHA1, PCDHA10 +15 more	Deletion (intron variant)	PCDHA13-related disorder	GLikely benign
Select item 2673031	NM_018899.6(PCDHAC2):c.1911G>A (p.Leu637=)	PCDHA1, PCDHA10 +14 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655805	NM_018899.6(PCDHAC2):c.2460G>A (p.Ser820=)	PCDHA1, PCDHA10 +14 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655804	NM_018899.6(PCDHAC2):c.1161C>G (p.Leu387=)	PCDHA1, PCDHA10 +14 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655803	NM_018899.6(PCDHAC2):c.480G>T (p.Ser160=)	PCDHA1, PCDHA10 +14 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2619201	NM_018899.6(PCDHAC2):c.2207C>A (p.Ala736Glu)	PCDHA1, PCDHA10 +14 more (A736E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608214	NM_018899.6(PCDHAC2):c.1582A>G (p.Ser528Gly)	PCDHA1, PCDHA10 +14 more (S528G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588412	NM_018899.6(PCDHAC2):c.2197C>T (p.Arg733Cys)	PCDHA1, PCDHA10 +14 more (R733C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495327	NM_018899.6(PCDHAC2):c.776A>G (p.Gln259Arg)	PCDHA1, PCDHA10 +14 more (Q259R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390226	NM_018899.6(PCDHAC2):c.1292G>A (p.Arg431Gln)	PCDHA1, PCDHA10 +14 more (R431Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381300	NM_018899.6(PCDHAC2):c.1349C>T (p.Thr450Ile)	PCDHA1, PCDHA10 +14 more (T450I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364742	NM_018899.6(PCDHAC2):c.2252G>A (p.Arg751Lys)	PCDHA1, PCDHA10 +14 more (R751K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363813	NM_018899.6(PCDHAC2):c.2038G>T (p.Val680Leu)	PCDHA1, PCDHA10 +14 more (V680L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335013	NM_018899.6(PCDHAC2):c.2212G>T (p.Gly738Cys)	PCDHA7, PCDHA8 +14 more (G738C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334108	NM_018899.6(PCDHAC2):c.1589G>C (p.Ser530Thr)	PCDHA1, PCDHA10 +14 more (S530T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331542	NM_018899.6(PCDHAC2):c.1067T>G (p.Val356Gly)	PCDHA1, PCDHA10 +14 more (V356G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292341	NM_018899.6(PCDHAC2):c.406G>A (p.Val136Met)	PCDHA1, PCDHA10 +14 more (V136M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281920	NM_018899.6(PCDHAC2):c.1195A>C (p.Lys399Gln)	PCDHA1, PCDHA10 +14 more (K399Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271141	NM_018899.6(PCDHAC2):c.1904T>C (p.Val635Ala)	PCDHA1, PCDHA10 +14 more (V635A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245872	NM_018899.6(PCDHAC2):c.811C>T (p.Pro271Ser)	PCDHA1, PCDHA10 +14 more (P271S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238595	NM_018899.6(PCDHAC2):c.1193G>A (p.Arg398Gln)	PCDHA1, PCDHA10 +14 more (R398Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236043	NM_018899.6(PCDHAC2):c.682A>G (p.Thr228Ala)	PCDHA1, PCDHA10 +14 more (T228A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235172	NM_018899.6(PCDHAC2):c.2111T>C (p.Ile704Thr)	PCDHA1, PCDHA10 +14 more (I704T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226362	NM_018899.6(PCDHAC2):c.1387A>G (p.Asn463Asp)	PCDHA1, PCDHA10 +14 more (N463D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808769	GRCh37/hg19 5q31.3(chr5:140082762-140773954)x3	PCDHA1, PCDHA10 +49 more	Copy number gain	not provided	GUncertain significance
Select item 1330185	GRCh37/hg19 5q31.2-31.3(chr5:139493717-140517454)x1	PCDHA2, PCDHA6 +44 more	Copy number loss	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GPathogenic
Select item 1123255	NM_018907.4(PCDHA4):c.2499T>A (p.Asp833Glu)	PCDHA1, PCDHA10 +15 more (D571E +10 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1020265	NC_000005.9:g.(?_136633338)_(140998481_?)dup	BRD8, PCDHB16 +116 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 770914	NM_018903.4(PCDHA12):c.2492C>G (p.Pro831Arg)	PCDHAC1, PCDHAC2 +15 more (P576R +10 more)	Single nucleotide variant (missense variant)	PCDHA9-related disorder +1 more	GBenign/Likely benign
Select item 745976	NM_031857.2(PCDHA9):c.2406C>G (p.Pro802=)	PCDHA10, PCDHA11 +15 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 710264	NM_018899.6(PCDHAC2):c.2841C>A (p.Ile947=)	PCDHA11, PCDHA12 +15 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 708061	NM_018904.3(PCDHA13):c.2613C>T (p.Tyr871=)	PCDHA1, PCDHA10 +15 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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	CCNH, CCNI2 +385 more	Deletion	Hereditary cancer-predisposing syndrome +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 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 279578	NM_018900.4(PCDHA1):c.2420G>A (p.Arg807His)	PCDHA1, PCDHA10 +15 more (R543H +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 147816	GRCh38/hg38 5q31.3(chr5:140963199-142322798)x1	ARAP3, DELE1 +123 more	Copy number loss	See cases	GUncertain significance
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 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	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

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Links from Gene

Items: 61