24229[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153284	GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1	ARL8B, ARPC4 +286 more	Copy number loss	See cases	GPathogenic
Select item 155258	GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1	ARL8B, ARPC4 +263 more	Copy number loss	See cases	GPathogenic
Select item 155106	GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1	ARL8B, ARPC4 +271 more	Copy number loss	See cases	GPathogenic
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 149331	GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1	ARL8B, ARPC4 +291 more	Copy number loss	See cases	GPathogenic
Select item 149085	GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1	ARL8B, ARPC4 +331 more	Copy number loss	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57708	GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1	ARL8B, ARPC4 +281 more	Copy number loss	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 155639	GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1	ARL8B, ARPC4 +274 more	Copy number loss	See cases	GPathogenic
Select item 155699	GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3	ARPC4, ARPC4-TTLL3 +307 more	Copy number gain	See cases	GPathogenic
Select item 148234	GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3	ARPC4, ARPC4-TTLL3 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 146336	GRCh38/hg38 3p26.1-25.3(chr3:8038727-11240931)x4	ARPC4, ARPC4-TTLL3 +146 more	Copy number gain	See cases	GLikely pathogenic
Select item 148254	GRCh38/hg38 3p25.3(chr3:8812036-9953438)x3	ARPC4, ARPC4-TTLL3 +68 more	Copy number gain	See cases	GUncertain significance
Select item 149536	GRCh38/hg38 3p25.3(chr3:8941623-10151752)x3	ARPC4, ARPC4-TTLL3 +81 more	Copy number gain	See cases	GUncertain significance
Select item 57741	GRCh38/hg38 3p25.3(chr3:9393349-9956171)x1	ARPC4, ARPC4-TTLL3 +48 more	Copy number loss	See cases	GPathogenic
Select item 148359	GRCh38/hg38 3p25.3-25.2(chr3:9394874-11690612)x1	ARPC4, ARPC4-TTLL3 +118 more	Copy number loss	See cases	GPathogenic
Select item 144159	GRCh38/hg38 3p25.3(chr3:9624696-10039318)x1	LOC401052, MTMR14 +47 more	Copy number loss	See cases	GUncertain significance
Select item 57742	GRCh38/hg38 3p25.3(chr3:9654297-10228687)x1	ARPC4, ARPC4-TTLL3 +63 more	Copy number loss	See cases	GPathogenic
Select item 1263470	NM_001321142.2(CIDEC):c.*293T>C	CIDEC	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1281717	NM_001321142.2(CIDEC):c.*162G>A	CIDEC	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1226316	NM_001321142.2(CIDEC):c.*69C>G	CIDEC	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2329257	NM_001321142.2(CIDEC):c.680C>T (p.Ser227Leu)	CIDEC (S240L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271837	NM_001321142.2(CIDEC):c.676G>C (p.Ala226Pro)	CIDEC (A239P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038583	NM_001321142.2(CIDEC):c.660G>T (p.Gln220His)	CIDEC (Q146H +3 more)	Single nucleotide variant (missense variant)	CIDEC-related disorder	GLikely benign
Select item 726948	NM_001321142.2(CIDEC):c.603A>G (p.Val201=)	CIDEC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 128773	NM_001321142.2(CIDEC):c.600C>T (p.His200=)	CIDEC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 434767	NM_001321142.2(CIDEC):c.594A>G (p.Thr198=)	CIDEC	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 738431	NM_001321142.2(CIDEC):c.588G>A (p.Gln196=)	CIDEC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2412194	NM_001321142.2(CIDEC):c.585G>A (p.Met195Ile)	CIDEC (M205I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267352	NM_001321142.2(CIDEC):c.565C>T (p.Arg189Cys)	CIDEC (R115C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 50400	NM_001321142.2(CIDEC):c.556G>T (p.Glu186Ter)	CIDEC (E186* +3 more)	Single nucleotide variant (nonsense)	CIDEC-related familial partial lipodystrophy	GPathogenic
Select item 3267355	NM_001321142.2(CIDEC):c.547A>T (p.Ile183Phe)	CIDEC (I183F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1336007	NM_001321142.2(CIDEC):c.545G>A (p.Arg182His)	CIDEC (R108H +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 434768	NM_001321142.2(CIDEC):c.467T>C (p.Ile156Thr)	CIDEC (I156T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475855	NM_001321142.2(CIDEC):c.424C>T (p.Arg142Cys)	CIDEC (R142C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290009	NM_001321142.2(CIDEC):c.389T>C (p.Leu130Pro)	CIDEC (L140P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717831	NM_001321142.2(CIDEC):c.387C>G (p.Ser129=)	CIDEC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3144988	NM_001321142.2(CIDEC):c.380C>T (p.Pro127Leu)	CIDEC (P127L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267354	NM_001321142.2(CIDEC):c.371C>T (p.Thr124Ile)	CIDEC (T137I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046980	NM_001321142.2(CIDEC):c.366+10C>T	CIDEC	Single nucleotide variant (intron variant)	CIDEC-related disorder	GLikely benign
Select item 2252784	NM_001321142.2(CIDEC):c.356C>T (p.Pro119Leu)	CIDEC (P119L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144987	NM_001321142.2(CIDEC):c.340C>G (p.Gln114Glu)	CIDEC (Q40E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617664	NM_001321142.2(CIDEC):c.329T>C (p.Leu110Pro)	CIDEC (L123P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612947	NM_001321142.2(CIDEC):c.292T>C (p.Phe98Leu)	CIDEC (F108L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713060	NM_001321142.2(CIDEC):c.264T>C (p.Asp88=)	CIDEC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2682827	NM_001321142.2(CIDEC):c.212G>A (p.Arg71Gln)	CIDEC (R71Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1226987	NM_001321142.2(CIDEC):c.208-91C>T	CIDEC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2653503	NM_001321142.2(CIDEC):c.208-143C>A	CIDEC (P73T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 148687	GRCh38/hg38 3p25.3(chr3:9875909-10572677)x1	ATP2B2, ATP2B2-IT1 +58 more	Copy number loss	See cases	GPathogenic
Select item 1233317	NM_001321142.2(CIDEC):c.207+294_207+308del	CIDEC	Deletion (intron variant)	not provided	GBenign
Select item 1237092	NM_001321142.2(CIDEC):c.207+180G>A	CIDEC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 128771	NM_001321142.2(CIDEC):c.181T>C (p.Tyr61His)	CIDEC (Y61H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 713900	NM_001321142.2(CIDEC):c.175A>G (p.Met59Val)	CIDEC (M72V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3144986	NM_001321142.2(CIDEC):c.160G>C (p.Val54Leu)	CIDEC (V67L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1336008	NM_001321142.2(CIDEC):c.160G>A (p.Val54Met)	CIDEC (V54M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208593	NM_001321142.2(CIDEC):c.155G>A (p.Arg52Gln)	CIDEC (R65Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 128770	NM_001321142.2(CIDEC):c.146C>T (p.Thr49Met)	CIDEC (T49M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 713341	NM_001321142.2(CIDEC):c.139G>A (p.Val47Ile)	CIDEC (V60I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GLikely benign
Select item 1693862	NM_001321142.2(CIDEC):c.136C>T (p.Arg46Cys)	CIDEC (R46C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2393147	NM_001321142.2(CIDEC):c.127C>T (p.Arg43Trp)	CIDEC (R56W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144991	NM_001321142.2(CIDEC):c.97T>C (p.Ser33Pro)	CIDEC (S33P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 128774	NM_001321142.2(CIDEC):c.96G>T (p.Leu32=)	CIDEC	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2215540	NM_001321142.2(CIDEC):c.88C>G (p.Gln30Glu)	CIDEC (Q30E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1247458	NM_001321142.2(CIDEC):c.53+77T>A	CIDEC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 128772	NM_001321142.2(CIDEC):c.33C>G (p.Leu11=)	CIDEC	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1269058	NM_001321142.2(CIDEC):c.-25-52G>T	CIDEC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3246963	NC_000003.11:g.(?_9470623)_(11078652_?)dup	ARPC4, ARPC4-TTLL3 +29 more	Duplication	not provided	GUncertain significance
Select item 3246936	NC_000003.11:g.(?_9703931)_(11078652_?)del	GHRLOS, IL17RC +27 more	Deletion	Myoclonic-atonic epilepsy	GPathogenic
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 3062673	GRCh37/hg19 3p26.1-25.3(chr3:6306331-11468530)x1	ARPC4, ARPC4-TTLL3 +40 more	Copy number loss	not specified	GPathogenic
Select item 2685906	GRCh37/hg19 3p25.3(chr3:9655252-10332544)x3	ARPC4, ARPC4-TTLL3 +23 more	Copy number gain	not provided	GUncertain significance
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2671618	Single allele	ARL8B, ARPC4 +36 more	Deletion	not provided	GPathogenic
Select item 2580893	GRCh37/hg19 3p26.2-25.3(chr3:3691505-9917651)x1	ARPC4, ARPC4-TTLL3 +29 more	Copy number loss	3p- syndrome	GPathogenic
Select item 2427431	NC_000003.11:g.(?_9908818)_(10085568_?)del	CIDEC, CRELD1 +6 more	Deletion	Candidiasis, familial, 9	GUncertain significance
Select item 2427040	NC_000003.11:g.(?_9908818)_(9932515_?)dup	CIDEC, JAGN1	Duplication	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 1808299	GRCh37/hg19 3p26.3-25.3(chr3:61892-11679509)x1	ARL8B, ARPC4 +55 more	Copy number loss	not provided	GPathogenic
Select item 1807789	GRCh37/hg19 3p25.3(chr3:9908803-10265564)x3	BRK1, CIDEC +10 more	Copy number gain	not provided	GUncertain significance
Select item 1807638	GRCh37/hg19 3p25.3(chr3:9754612-10295828)x3	ARPC4, ARPC4-TTLL3 +20 more	Copy number gain	not provided	GUncertain significance
Select item 1803810	GRCh37/hg19 3p26.3-25.3(chr3:60931-10687964)x3	JAGN1, LHFPL4 +50 more	Copy number gain	not provided	GPathogenic
Select item 1526997	GRCh37/hg19 3p25.3(chr3:9754611-10295828)	BRPF1, CAMK1 +20 more	Copy number gain	not specified	GUncertain significance
Select item 1526995	GRCh37/hg19 3p26.1-25.3(chr3:6842555-10153209)	ARPC4, ARPC4-TTLL3 +28 more	Copy number loss	not specified	GPathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
Select item 1412633	NC_000003.11:g.(?_8775563)_(9986075_?)dup	ARPC4, ARPC4-TTLL3 +20 more	Duplication	Long QT syndrome	GUncertain significance
Select item 1412574	NC_000003.11:g.(?_9908818)_(10191649_?)dup	BRK1, CIDEC +9 more	Duplication	Candidiasis, familial, 9 +1 more	GUncertain significance
Select item 1373390	NC_000003.11:g.(?_7782024)_(11078652_?)dup	ARPC4, ARPC4-TTLL3 +38 more	Duplication	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 1328451	GRCh37/hg19 3p25.3(chr3:9501646-9991928)x4	ARPC4, ARPC4-TTLL3 +16 more	Copy number gain	not provided	GUncertain significance
Select item 980632	GRCh37/hg19 3p25.3(chr3:9870413-9930906)x1	CIDEC, ARPC4-TTLL3 +2 more	Copy number loss	not provided	GUncertain significance
Select item 830761	NC_000003.12:g.(?_9701780)_(9944589_?)dup	ARPC4, ARPC4-TTLL3 +13 more	Duplication	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 816593	GRCh37/hg19 3p26.3-25.3(chr3:61891-10287825)x1	ARL8B, ARPC4 +45 more	Copy number loss	not provided	GPathogenic
Select item 688108	GRCh37/hg19 3p25.3(chr3:8883205-9954034)x3	ARPC4, ARPC4-TTLL3 +16 more	Copy number gain	not provided	GUncertain significance
Select item 635955	Single allele	BRPF1, IL17RE +33 more	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 562744	GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3	ANKRD28, ARL8B +84 more	Copy number gain	not provided	GPathogenic
Select item 562726	GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3	ANKRD28, ARL8B +98 more	Copy number gain	not provided	GPathogenic

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