CCDC138[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 59147	GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	AFF3, C2orf15 +373 more	Copy number gain	See cases	GPathogenic
Select item 149662	GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3	ACOXL, BUB1 +241 more	Copy number gain	See cases	GPathogenic
Select item 152239	GRCh38/hg38 2q12.2-14.1(chr2:106428663-112379067)x3	ACOXL, ACOXL-AS1 +154 more	Copy number gain	See cases	GUncertain significance
Select item 150754	GRCh38/hg38 2q12.2-13(chr2:106516472-110576905)x3	CCDC138, CD8B2 +99 more	Copy number gain	See cases	GUncertain significance
Select item 59313	GRCh38/hg38 2q12.2-13(chr2:106696282-110223328)x3	CCDC138, EDAR +93 more	Copy number gain	See cases	GUncertain significance
Select item 144754	GRCh38/hg38 2q12.3-13(chr2:107962353-109700179)x1	CCDC138, EDAR +67 more	Copy number loss	See cases	GUncertain significance
Select item 464169	Single allele	CCDC138, EDAR +31 more	Duplication	Congenital myasthenic syndrome 20 +1 more	GUncertain significance
Select item 153852	GRCh38/hg38 2q12.3-13(chr2:108526866-109746741)x1	CCDC138, EDAR +56 more	Copy number loss	See cases	GUncertain significance
Select item 57544	GRCh38/hg38 2q12.3-13(chr2:108579001-109736559)x1	CCDC138, EDAR +51 more	Copy number loss	See cases	GPathogenic
Select item 146441	GRCh38/hg38 2q12.3-13(chr2:108593876-109700179)x1	CCDC138, EDAR +50 more	Copy number loss	See cases	GUncertain significance
Select item 153634	GRCh38/hg38 2q12.3-13(chr2:108660713-109735214)x1	CCDC138, EDAR +44 more	Copy number loss	See cases	GUncertain significance
Select item 147380	GRCh38/hg38 2q12.3-13(chr2:108681906-109700179)x3	CCDC138, EDAR +42 more	Copy number gain	See cases	GUncertain significance
Select item 148286	GRCh38/hg38 2q13(chr2:108719125-110611314)x3	CCDC138, EDAR +61 more	Copy number gain	See cases	GUncertain significance
Select item 655229	NC_000002.11:g.(?_109336043)_(109579739_?)dup	LOC129388898, LOC129934529 +5 more	Duplication	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +2 more	GUncertain significance
Select item 584060	NC_000002.12:g.(?_108719587)_(108963283_?)del	CCDC138, EDAR +5 more	Deletion	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 657900	NC_000002.11:g.(?_109367964)_(109579739_?)dup	CCDC138, EDAR +5 more	Duplication	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GUncertain significance
Select item 2377060	NM_144978.3(CCDC138):c.11G>T (p.Arg4Met)	CCDC138, LOC129934529 +1 more (R4M +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2457633	NM_144978.3(CCDC138):c.13G>C (p.Val5Leu)	CCDC138, LOC129934529 +1 more (G19A +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3263855	NM_144978.3(CCDC138):c.21G>C (p.Lys7Asn)	CCDC138, LOC129934529 +1 more (A22P +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2344366	NM_144978.3(CCDC138):c.73G>T (p.Gly25Trp)	CCDC138, LOC129934529 +1 more (G25W +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3138386	NM_144978.3(CCDC138):c.125A>G (p.Tyr42Cys)	CCDC138, RANBP2 (Y42C +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 3263852	NM_144978.3(CCDC138):c.156T>A (p.Asp52Glu)	CCDC138, RANBP2 (D52E +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2397030	NM_144978.3(CCDC138):c.176A>T (p.Asp59Val)	CCDC138, RANBP2 (D54V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2218570	NM_144978.3(CCDC138):c.214A>G (p.Lys72Glu)	CCDC138, RANBP2 (K72E +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2357169	NM_144978.3(CCDC138):c.238A>C (p.Ser80Arg)	CCDC138, RANBP2 (S80R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2345317	NM_144978.3(CCDC138):c.291C>G (p.Phe97Leu)	CCDC138, RANBP2 (F103L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2651256	NM_144978.3(CCDC138):c.357G>A (p.Ser119=)	CCDC138, RANBP2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3138390	NM_144978.3(CCDC138):c.409A>G (p.Asn137Asp)	CCDC138, RANBP2 (N132D +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3263860	NM_144978.3(CCDC138):c.415A>G (p.Thr139Ala)	CCDC138, RANBP2 (T139A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3263861	NM_144978.3(CCDC138):c.430C>T (p.Arg144Trp)	CCDC138, RANBP2 (R150W +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2299366	NM_144978.3(CCDC138):c.508C>T (p.Arg170Trp)	CCDC138, RANBP2 (R170W +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3263854	NM_144978.3(CCDC138):c.517C>T (p.Leu173Phe)	CCDC138, RANBP2 (L131F +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3138391	NM_144978.3(CCDC138):c.607G>A (p.Glu203Lys)	CCDC138, RANBP2 (E161K +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2511746	NM_144978.3(CCDC138):c.616C>A (p.Gln206Lys)	CCDC138, RANBP2 (Q201K +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2252867	NM_144978.3(CCDC138):c.629G>A (p.Arg210His)	CCDC138, RANBP2 (R216H +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2479701	NM_144978.3(CCDC138):c.650A>G (p.Gln217Arg)	CCDC138, RANBP2 (Q217R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2266913	NM_144978.3(CCDC138):c.706G>T (p.Val236Phe)	CCDC138, RANBP2 (V194F +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2507429	NM_144978.3(CCDC138):c.713C>A (p.Thr238Lys)	CCDC138, RANBP2 (T196K +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3263853	NM_144978.3(CCDC138):c.730A>G (p.Lys244Glu)	CCDC138, RANBP2 (K250E +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3138392	NM_144978.3(CCDC138):c.731A>G (p.Lys244Arg)	CCDC138, RANBP2 (K239R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2255937	NM_144978.3(CCDC138):c.743A>G (p.Asp248Gly)	CCDC138, RANBP2 (D248G +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2392481	NM_144978.3(CCDC138):c.886A>G (p.Ile296Val)	CCDC138, RANBP2 (I291V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3138382	NM_144978.3(CCDC138):c.1013A>C (p.Glu338Ala)	CCDC138, RANBP2 (E337A +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480765	NM_144978.3(CCDC138):c.1021C>T (p.Pro341Ser)	CCDC138, RANBP2 (P299S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589775	NM_144978.3(CCDC138):c.1043T>C (p.Val348Ala)	CCDC138, RANBP2 (V306A +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138384	NM_144978.3(CCDC138):c.1055G>T (p.Gly352Val)	CCDC138, RANBP2 (G357V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609427	NM_144978.3(CCDC138):c.1084A>C (p.Met362Leu)	CCDC138, RANBP2 (M357L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263857	NM_144978.3(CCDC138):c.1088A>G (p.Asp363Gly)	CCDC138, RANBP2 (D321G +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263858	NM_144978.3(CCDC138):c.1093A>G (p.Ile365Val)	CCDC138, RANBP2 (I371V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138385	NM_144978.3(CCDC138):c.1130A>C (p.Glu377Ala)	CCDC138, RANBP2 (E376A +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263266	NM_144978.3(CCDC138):c.1153C>A (p.Pro385Thr)	CCDC138, RANBP2 (P343T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400499	NM_144978.3(CCDC138):c.1318G>A (p.Ala440Thr)	CCDC138, RANBP2 (A124T +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2403541	NM_144978.3(CCDC138):c.1357G>A (p.Gly453Ser)	CCDC138, RANBP2 (G448S +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2395407	NM_144978.3(CCDC138):c.1358G>A (p.Gly453Asp)	CCDC138, RANBP2 (G411D +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3138387	NM_144978.3(CCDC138):c.1384A>G (p.Thr462Ala)	CCDC138, RANBP2 (T457A +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3263859	NM_144978.3(CCDC138):c.1398G>C (p.Gln466His)	CCDC138, RANBP2 (Q150H +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2327769	NM_144978.3(CCDC138):c.1417T>C (p.Ser473Pro)	CCDC138, RANBP2 (S468P +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2330941	NM_144978.3(CCDC138):c.1424A>C (p.Glu475Ala)	CCDC138, RANBP2 (E431A +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2279290	NM_144978.3(CCDC138):c.1565C>T (p.Thr522Ile)	CCDC138, RANBP2 (T522I +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3138388	NM_144978.3(CCDC138):c.1646T>G (p.Leu549Arg)	CCDC138, RANBP2 (L233R +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2319754	NM_144978.3(CCDC138):c.1756C>G (p.Leu586Val)	CCDC138, RANBP2 (L527V +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2344094	NM_144978.3(CCDC138):c.1763G>A (p.Arg588Gln)	CCDC138, RANBP2 (E421K +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2235106	NM_144978.3(CCDC138):c.1774C>T (p.Leu592Phe)	CCDC138, RANBP2 (L598F +6 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3138389	NM_144978.3(CCDC138):c.1868A>G (p.His623Arg)	CCDC138, RANBP2 (I577V +10 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3247345	NC_000002.11:g.(?_109368307)_(109579739_?)del	CCDC138, EDAR +1 more	Deletion	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 3062653	GRCh37/hg19 2q12.2-12.3(chr2:107468050-109530903)x1	CCDC138, EDAR +9 more	Copy number loss	not specified	GUncertain significance
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 3062558	GRCh37/hg19 2q12.2-13(chr2:107032426-113111856)x1	ACOXL, ANAPC1 +27 more	Copy number loss	not specified	GPathogenic
Select item 3062469	GRCh37/hg19 2q12.3-13(chr2:108526025-110504319)x3	CCDC138, EDAR +9 more	Copy number gain	not specified	GUncertain significance
Select item 2685861	GRCh37/hg19 2q12.3-13(chr2:108534031-111365996)x3	CCDC138, EDAR +15 more	Copy number gain	not provided	GUncertain significance
Select item 2684653	GRCh37/hg19 2q12.3-13(chr2:109128791-110504318)x1	CCDC138, EDAR +4 more	Copy number loss	not provided	GUncertain significance
Select item 2684642	GRCh37/hg19 2q12.2-13(chr2:107029681-113127751)x1	ACOXL, ANAPC1 +28 more	Copy number loss	not provided	GPathogenic
Select item 2426740	NC_000002.11:g.(?_108604612)_(109579739_?)del	CCDC138, EDAR +7 more	Deletion	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 2425553	NC_000002.11:g.(?_109368307)_(109579739_?)dup	CCDC138, EDAR +1 more	Duplication	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 2425552	NC_000002.11:g.(?_108604612)_(109579739_?)dup	CCDC138, EDAR +7 more	Duplication	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1705945	GRCh37/hg19 2q12.3-13(chr2:109157562-110497991)x1	SOWAHC, CCDC138 +4 more	Copy number loss	Autism	GPathogenic
Select item 1704648	GRCh37/hg19 2q12.3-13(chr2:108446955-110504318)x3	CCDC138, EDAR +10 more	Copy number gain	MISSED ABORTION	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 1526886	GRCh37/hg19 2q12.3-13(chr2:108446955-110504318)	CCDC138, EDAR +10 more	Copy number loss	not specified	GPathogenic
Select item 1340973	GRCh37/hg19 2q12.2-12.3(chr2:107020782-110068385)x1	CCDC138, EDAR +10 more	Copy number loss	not provided	GLikely pathogenic
Select item 1340865	GRCh37/hg19 2q12.3-13(chr2:109143322-110485026)x3	CCDC138, EDAR +4 more	Copy number gain	not provided	GUncertain significance
Select item 1064221	NC_000002.11:g.(?_109336063)_(109547470_?)del	CCDC138, EDAR +1 more	Deletion	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 1047235	NC_000002.11:g.(?_109336063)_(109579739_?)dup	CCDC138, EDAR +1 more	Duplication	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 980469	GRCh37/hg19 2q12.2-13(chr2:107029680-113187742)x1	ANAPC1, SULT1C4 +28 more	Copy number loss	not provided	GPathogenic
Select item 833287	NC_000002.12:g.(?_107988146)_(108963283_?)dup	CCDC138, EDAR +7 more	Duplication	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 831710	NC_000002.12:g.(?_108729112)_(108963283_?)dup	CCDC138, EDAR +1 more	Duplication	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 830541	NC_000002.12:g.(?_107988146)_(108963283_?)del	SULT1C2, SULT1C3 +7 more	Deletion	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 814292	GRCh37/hg19 2q12.3-13(chr2:108499809-110504318)x1	SULT1C4, GCC2 +10 more	Copy number loss	not provided	GLikely pathogenic
Select item 625546	GRCh37/hg19 2q12.3-13(chr2:109301074-110482930)	CCDC138, EDAR +4 more	Copy number loss	not provided	GLikely pathogenic
Select item 624512	GRCh37/hg19 2q12.3-13(chr2:109300532-110862536)x3	EDAR, CCDC138 +7 more	Copy number gain	not provided	GUncertain significance
Select item 562679	GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3	C2orf15, C2orf49 +122 more	Copy number gain	not provided	GPathogenic
Select item 562663	GRCh37/hg19 2q12.2-13(chr2:107020782-111365996)x1	NPHP1, CCDC138 +18 more	Copy number loss	not provided	GLikely pathogenic
Select item 562653	GRCh37/hg19 2q12.3-13(chr2:108501887-110504318)x3	SEPTIN10, SOWAHC +10 more	Copy number gain	not provided	GUncertain significance
Select item 562633	GRCh37/hg19 2q12.3-13(chr2:109295035-110504318)x1	CCDC138, EDAR +4 more	Copy number loss	not provided	GUncertain significance
Select item 560135	Single allele	ACOXL, BCL2L11 +20 more	Duplication	not provided	GLikely pathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic

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