ClinVar for Gene (Select 129881) - ClinVar

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Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3266413	NM_001085447.2(CFAP210):c.534G>T (p.Lys178Asn)	CFAP210 (K178N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143389	NM_001085447.2(CFAP210):c.989A>G (p.His330Arg)	CFAP210 (H330R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143388	NM_001085447.2(CFAP210):c.964A>T (p.Met322Leu)	CFAP210 (M322L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143387	NM_001085447.2(CFAP210):c.94G>T (p.Val32Phe)	CFAP210 (V32F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143386	NM_001085447.2(CFAP210):c.860A>G (p.Gln287Arg)	CFAP210 (Q287R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143385	NM_001085447.2(CFAP210):c.823C>T (p.His275Tyr)	CFAP210 (H275Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143384	NM_001085447.2(CFAP210):c.811C>T (p.Arg271Trp)	CFAP210 (R271W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143383	NM_001085447.2(CFAP210):c.781A>G (p.Lys261Glu)	CFAP210 (K261E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143382	NM_001085447.2(CFAP210):c.676G>A (p.Glu226Lys)	CFAP210 (E226K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143381	NM_001085447.2(CFAP210):c.290A>G (p.Tyr97Cys)	CFAP210 (Y97C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143380	NM_001085447.2(CFAP210):c.202G>A (p.Glu68Lys)	CFAP210 (E68K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143378	NM_001085447.2(CFAP210):c.177A>C (p.Gln59His)	CFAP210 (Q59H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143377	NM_001085447.2(CFAP210):c.1604A>T (p.Gln535Leu)	CFAP210 (Q535L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143376	NM_001085447.2(CFAP210):c.1478T>C (p.Leu493Pro)	CFAP210 (L493P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143375	NM_001085447.2(CFAP210):c.1417G>A (p.Asp473Asn)	CFAP210 (D473N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143374	NM_001085447.2(CFAP210):c.1277A>C (p.Lys426Thr)	CFAP210 (K426T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143373	NM_001085447.2(CFAP210):c.1231C>G (p.Gln411Glu)	CFAP210 (Q411E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143372	NM_001085447.2(CFAP210):c.1189A>G (p.Ile397Val)	CFAP210 (I397V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143371	NM_001085447.2(CFAP210):c.1115C>G (p.Ala372Gly)	CFAP210 (A372G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143370	NM_001085447.2(CFAP210):c.1046C>G (p.Ala349Gly)	CFAP210 (A349G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143369	NM_001085447.2(CFAP210):c.1013A>G (p.Lys338Arg)	CFAP210 (K338R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062617	GRCh37/hg19 2q24.2-31.1(chr2:162692199-174452488)x1	ABCB11, B3GALT1 +57 more	Copy number loss	not specified	GPathogenic
Select item 2619328	NM_001085447.2(CFAP210):c.533A>G (p.Lys178Arg)	CFAP210 (K178R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611204	NM_001085447.2(CFAP210):c.485G>A (p.Ser162Asn)	CFAP210 (S162N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600589	NM_001085447.2(CFAP210):c.1214C>T (p.Ala405Val)	CFAP210 (A405V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557003	NM_001085447.2(CFAP210):c.1165G>A (p.Glu389Lys)	CFAP210 (E389K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553654	NM_001085447.2(CFAP210):c.1384G>A (p.Ala462Thr)	CFAP210 (A462T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538957	NM_001085447.2(CFAP210):c.1603C>G (p.Gln535Glu)	CFAP210 (Q535E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537509	NM_001085447.2(CFAP210):c.390A>T (p.Lys130Asn)	CFAP210 (K130N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525672	NM_001085447.2(CFAP210):c.632G>A (p.Arg211Lys)	CFAP210 (R211K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512961	NM_001085447.2(CFAP210):c.403A>G (p.Lys135Glu)	CFAP210 (K135E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489358	NM_001085447.2(CFAP210):c.212G>C (p.Cys71Ser)	CFAP210 (C71S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488937	NM_001085447.2(CFAP210):c.1005A>C (p.Glu335Asp)	CFAP210 (E335D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480419	NM_001085447.2(CFAP210):c.1337C>A (p.Ala446Glu)	CFAP210 (A446E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454809	NM_001085447.2(CFAP210):c.1447T>G (p.Ser483Ala)	CFAP210 (S483A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454657	NM_001085447.2(CFAP210):c.586G>A (p.Ala196Thr)	CFAP210 (A196T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1339653	GRCh37/hg19 2q24.2-31.1(chr2:160347642-174075851)x1	METTL8, PSMD14 +67 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 981210	GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1	ABCB11, AGPS +97 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 443256	GRCh37/hg19 2q31.1(chr2:169727951-170825165)x1	ABCB11, BBS5 +13 more	Copy number loss	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic
Select item 187824	GRCh37/hg19 2q24.3-31.1(chr2:167996718-170671886)x1	CERS6, SSB +17 more	Copy number loss	See cases	GLikely pathogenic
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 150637	GRCh38/hg38 2q24.3-31.1(chr2:168884350-169959279)x1	ABCB11, BBS5 +33 more	Copy number loss	See cases	GUncertain significance
Select item 147950	GRCh38/hg38 2q31.1(chr2:169206895-170039471)x1	CFAP210, BBS5 +28 more	Copy number loss	See cases	GUncertain significance
Select item 60249	GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1	LOC129935070, LOC129935071 +162 more	Copy number loss	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 57491	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	ABCB11, ATF2 +269 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 53