PCDHB14[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 3209653	NM_018934.4(PCDHB14):c.17C>T (p.Ala6Val)	PCDHB14, PCDHB@ (A6V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306609	NM_018934.4(PCDHB14):c.98A>G (p.Tyr33Cys)	PCDHB14, PCDHB@ (Y33C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224141	NM_018934.4(PCDHB14):c.101C>T (p.Ser34Phe)	PCDHB14, PCDHB@ (S34F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275286	NM_018934.4(PCDHB14):c.151G>C (p.Asp51His)	PCDHB14, PCDHB@ (D51H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304824	NM_018934.4(PCDHB14):c.163G>C (p.Gly55Arg)	PCDHB14, PCDHB@ (G55R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327178	NM_018934.4(PCDHB14):c.163G>A (p.Gly55Arg)	PCDHB14, PCDHB@ (G55R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251737	NM_018934.4(PCDHB14):c.293C>G (p.Ser98Cys)	PCDHB14, PCDHB@ (S98C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225511	NM_018934.4(PCDHB14):c.293C>A (p.Ser98Tyr)	PCDHB14, PCDHB@ (S98Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208725	NM_018934.4(PCDHB14):c.392C>T (p.Pro131Leu)	PCDHB14, PCDHB@ (P131L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209663	NM_018934.4(PCDHB14):c.508T>A (p.Tyr170Asn)	PCDHB14, PCDHB@ (Y170N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209664	NM_018934.4(PCDHB14):c.550G>C (p.Asp184His)	PCDHB14, PCDHB@ (D184H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479984	NM_018934.4(PCDHB14):c.652G>A (p.Gly218Arg)	PCDHB14, PCDHB@ (G218R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209666	NM_018934.4(PCDHB14):c.677C>T (p.Thr226Ile)	PCDHB14, PCDHB@ (T226I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209667	NM_018934.4(PCDHB14):c.781A>T (p.Ile261Phe)	PCDHB14, PCDHB@ (I261F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618288	NM_018934.4(PCDHB14):c.784G>C (p.Ala262Pro)	PCDHB14, PCDHB@ (A262P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261129	NM_018934.4(PCDHB14):c.790A>G (p.Ile264Val)	PCDHB14, PCDHB@ (I264V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2655834	NM_018934.4(PCDHB14):c.846C>T (p.Phe282=)	PCDHB14, PCDHB@	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2206525	NM_018934.4(PCDHB14):c.866G>C (p.Arg289Pro)	PCDHB14, PCDHB@ (R289P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278256	NM_018934.4(PCDHB14):c.875T>A (p.Phe292Tyr)	PCDHB14, PCDHB@ (F292Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304826	NM_018934.4(PCDHB14):c.889A>G (p.Ile297Val)	PCDHB14, PCDHB@ (I297V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235872	NM_018934.4(PCDHB14):c.896G>A (p.Gly299Glu)	PCDHB14, PCDHB@ (G299E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304831	NM_018934.4(PCDHB14):c.992G>A (p.Cys331Tyr)	PCDHB14, PCDHB@ (C331Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248712	NM_018934.4(PCDHB14):c.1009G>A (p.Val337Ile)	PCDHB14, PCDHB@ (V337I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209639	NM_018934.4(PCDHB14):c.1046T>G (p.Ile349Arg)	PCDHB14, PCDHB@ (I349R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488061	NM_018934.4(PCDHB14):c.1052C>T (p.Ser351Leu)	PCDHB14, PCDHB@ (S351L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304825	NM_018934.4(PCDHB14):c.1060A>G (p.Lys354Glu)	PCDHB14, PCDHB@ (K354E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209640	NM_018934.4(PCDHB14):c.1102T>C (p.Phe368Leu)	PCDHB14, PCDHB@ (F368L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209641	NM_018934.4(PCDHB14):c.1130A>G (p.Asp377Gly)	PCDHB14, PCDHB@ (D377G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225517	NM_018934.4(PCDHB14):c.1136G>A (p.Gly379Glu)	PCDHB14, PCDHB@ (G379E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209642	NM_018934.4(PCDHB14):c.1148G>C (p.Cys383Ser)	PCDHB14, PCDHB@ (C383S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601078	NM_018934.4(PCDHB14):c.1150T>C (p.Ser384Pro)	PCDHB14, PCDHB@ (S384P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209643	NM_018934.4(PCDHB14):c.1159G>A (p.Asp387Asn)	PCDHB14, PCDHB@ (D387N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209644	NM_018934.4(PCDHB14):c.1160A>G (p.Asp387Gly)	PCDHB14, PCDHB@ (D387G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209645	NM_018934.4(PCDHB14):c.1168C>T (p.Pro390Ser)	PCDHB14, PCDHB@ (P390S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209646	NM_018934.4(PCDHB14):c.1313C>T (p.Thr438Ile)	PCDHB14, PCDHB@ (T438I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304830	NM_018934.4(PCDHB14):c.1340A>G (p.Asn447Ser)	PCDHB14, PCDHB@ (N447S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594554	NM_018934.4(PCDHB14):c.1346C>T (p.Pro449Leu)	PCDHB14, PCDHB@ (P449L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655835	NM_018934.4(PCDHB14):c.1398C>T (p.Pro466=)	PCDHB14, PCDHB@	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3209647	NM_018934.4(PCDHB14):c.1411G>C (p.Gly471Arg)	PCDHB14, PCDHB@ (G471R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211736	NM_018934.4(PCDHB14):c.1420A>G (p.Ser474Gly)	PCDHB14, PCDHB@ (S474G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555750	NM_018934.4(PCDHB14):c.1426A>G (p.Thr476Ala)	PCDHB14, PCDHB@ (T476A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244470	NM_018934.4(PCDHB14):c.1439C>T (p.Ser480Leu)	PCDHB14, PCDHB@ (S480L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655836	NM_018934.4(PCDHB14):c.1440A>G (p.Ser480=)	PCDHB14, PCDHB@	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2411017	NM_018934.4(PCDHB14):c.1477C>T (p.Pro493Ser)	PCDHB14, PCDHB@ (P493S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3304823	NM_018934.4(PCDHB14):c.1521C>A (p.Asn507Lys)	PCDHB14, PCDHB@ (N507K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370718	NM_018934.4(PCDHB14):c.1526A>G (p.Asp509Gly)	PCDHB14, PCDHB@ (D509G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315947	NM_018934.4(PCDHB14):c.1528A>T (p.Asn510Tyr)	PCDHB14, PCDHB@ (N510Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273074	NM_018934.4(PCDHB14):c.1529A>G (p.Asn510Ser)	PCDHB14, PCDHB@ (N510S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209648	NM_018934.4(PCDHB14):c.1553C>T (p.Ser518Leu)	PCDHB14, PCDHB@ (S518L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209649	NM_018934.4(PCDHB14):c.1581C>A (p.Phe527Leu)	PCDHB14, PCDHB@ (F527L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510750	NM_018934.4(PCDHB14):c.1591G>A (p.Val531Met)	PCDHB14, PCDHB@ (V531M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227810	NM_018934.4(PCDHB14):c.1591G>C (p.Val531Leu)	PCDHB14, PCDHB@ (V531L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279928	NM_018934.4(PCDHB14):c.1708G>A (p.Ala570Thr)	PCDHB14, PCDHB@ (A570T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304828	NM_018934.4(PCDHB14):c.1709C>T (p.Ala570Val)	PCDHB14, PCDHB@ (A570V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302457	NM_018934.4(PCDHB14):c.1730C>T (p.Pro577Leu)	PCDHB14, PCDHB@ (P577L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379021	NM_018934.4(PCDHB14):c.1745C>T (p.Pro582Leu)	PCDHB14, PCDHB@ (P582L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342432	NM_018934.4(PCDHB14):c.1780G>A (p.Gly594Ser)	PCDHB14, PCDHB@ (G594S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209652	NM_018934.4(PCDHB14):c.1786T>G (p.Ser596Ala)	PCDHB14, PCDHB@ (S596A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254609	NM_018934.4(PCDHB14):c.1787C>T (p.Ser596Leu)	PCDHB14, PCDHB@ (S596L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304819	NM_018934.4(PCDHB14):c.1871T>G (p.Val624Gly)	PCDHB14, PCDHB@ (V624G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209654	NM_018934.4(PCDHB14):c.1873C>A (p.Arg625Ser)	PCDHB14, PCDHB@ (R625S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495467	NM_018934.4(PCDHB14):c.1897C>A (p.Arg633Ser)	PCDHB14, PCDHB@ (R633S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209655	NM_018934.4(PCDHB14):c.1906G>C (p.Ala636Pro)	PCDHB14, PCDHB@ (A636P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3209656	NM_018934.4(PCDHB14):c.1930G>A (p.Val644Ile)	PCDHB14, PCDHB@ (V644I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392642	NM_018934.4(PCDHB14):c.1979T>C (p.Val660Ala)	PCDHB14, PCDHB@ (V660A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655837	NM_018934.4(PCDHB14):c.1992C>T (p.Asp664=)	PCDHB14, PCDHB@	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3304829	NM_018934.4(PCDHB14):c.1993G>C (p.Gly665Arg)	PCDHB14, PCDHB@ (G665R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209658	NM_018934.4(PCDHB14):c.2005C>G (p.Pro669Ala)	PCDHB14, PCDHB@ (P669A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550718	NM_018934.4(PCDHB14):c.2032C>T (p.Pro678Ser)	PCDHB14, PCDHB@ (P678S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480728	NM_018934.4(PCDHB14):c.2033C>A (p.Pro678Gln)	PCDHB14, PCDHB@ (P678Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209659	NM_018934.4(PCDHB14):c.2035G>A (p.Ala679Thr)	PCDHB14, PCDHB@ (A679T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304822	NM_018934.4(PCDHB14):c.2116C>T (p.Leu706Phe)	PCDHB14, PCDHB@ (L706F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209660	NM_018934.4(PCDHB14):c.2134C>T (p.Arg712Trp)	PCDHB14, PCDHB@ (R712W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209661	NM_018934.4(PCDHB14):c.2154G>C (p.Arg718Ser)	PCDHB14, PCDHB@ (R718S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310186	NM_018934.4(PCDHB14):c.2162C>T (p.Ser721Leu)	PCDHB14, PCDHB@ (S721L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332566	NM_018934.4(PCDHB14):c.2174G>T (p.Cys725Phe)	PCDHB14, PCDHB@ (C725F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209662	NM_018934.4(PCDHB14):c.2188G>T (p.Gly730Cys)	PCDHB14, PCDHB@ (G730C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365494	NM_018934.4(PCDHB14):c.2189G>T (p.Gly730Val)	PCDHB14, PCDHB@ (G730V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304820	NM_018934.4(PCDHB14):c.2201G>A (p.Gly734Glu)	PCDHB14, PCDHB@ (G734E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403947	NM_018934.4(PCDHB14):c.2278G>A (p.Gly760Arg)	PCDHB14, PCDHB@ (G760R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605474	NM_018934.4(PCDHB14):c.2305C>T (p.Pro769Ser)	PCDHB14, PCDHB@ (P769S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304827	NM_018934.4(PCDHB14):c.2345A>G (p.Asn782Ser)	PCDHB14, PCDHB@ (N782S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514025	NM_018934.4(PCDHB14):c.2348T>C (p.Met783Thr)	PCDHB14, PCDHB@ (M783T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613096	NM_018934.4(PCDHB14):c.2362A>C (p.Asn788His)	PCDHB14, PCDHB@ (N788H)	Single nucleotide variant (missense variant)	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 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 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	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

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