RFC3[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC132090185, LOC132090186 +621 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 148858	GRCh38/hg38 13q12.3-13.3(chr13:29073320-36556014)x1	ALOX5AP, B3GLCT +203 more	Copy number loss	See cases	GPathogenic
Select item 154802	GRCh38/hg38 13q12.3-13.3(chr13:29321454-36995348)x3	ALG5, ALOX5AP +211 more	Copy number gain	See cases	GPathogenic
Select item 150360	GRCh38/hg38 13q12.3-13.3(chr13:30313809-39267681)x1	ALG5, ALOX5AP +214 more	Copy number loss	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 more	Copy number gain	See cases	GPathogenic
Select item 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009620, LOC130009621 +781 more	Copy number loss	See cases	GPathogenic
Select item 149761	GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1	AKAP11, ALG5 +485 more	Copy number loss	See cases	GPathogenic
Select item 57639	GRCh38/hg38 13q12.3-13.2(chr13:31164047-34428736)x1	B3GLCT, BRCA2 +79 more	Copy number loss	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	LOC130009600, LOC130009601 +735 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009611, LOC130009612 +938 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 58253	GRCh38/hg38 13q13.2-13.3(chr13:33754469-36942137)x3	CCDC169, CCDC169-SOHLH2 +53 more	Copy number gain	See cases	GUncertain significance
Select item 3313846	NM_002915.4(RFC3):c.5G>T (p.Ser2Ile)	RFC3 (S2I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153353	NM_002915.4(RFC3):c.6C>G (p.Ser2Arg)	RFC3 (S2R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153352	NM_002915.4(RFC3):c.46C>G (p.Leu16Val)	RFC3 (L16V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309929	NM_002915.4(RFC3):c.53A>G (p.Tyr18Cys)	RFC3 (Y18C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153355	NM_002915.4(RFC3):c.92A>G (p.Gln31Arg)	RFC3 (Q31R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242382	NM_002915.4(RFC3):c.257C>T (p.Thr86Ile)	RFC3 (T86I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236195	NM_002915.4(RFC3):c.404C>T (p.Thr135Ile)	RFC3 (T135I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313848	NM_002915.4(RFC3):c.506C>T (p.Ser169Phe)	RFC3 (S169F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593556	NM_002915.4(RFC3):c.542C>T (p.Ala181Val)	RFC3 (A181V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359859	NM_002915.4(RFC3):c.631C>G (p.Leu211Val)	RFC3 (L211V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 242955	t(7;13)(q31.1;q13.2)	RFC3, FOXP2	Translocation	Childhood apraxia of speech	GPathogenic
Select item 3313847	NM_002915.4(RFC3):c.817G>A (p.Glu273Lys)	RFC3 (E273K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411971	NM_002915.4(RFC3):c.833T>A (p.Leu278Gln)	RFC3 (L278Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261637	NM_002915.4(RFC3):c.854G>T (p.Cys285Phe)	RFC3 (C285F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153354	NM_002915.4(RFC3):c.886C>T (p.Leu296Phe)	RFC3 (L296F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373086	NM_002915.4(RFC3):c.961C>T (p.Arg321Cys)	RFC3 (R321C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268481	NM_002915.4(RFC3):c.1028A>G (p.Tyr343Cys)	RFC3 (Y343C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148850	GRCh37/hg19 13q11-13.3(chr13:19436287-36278224)x3	CDX2, AMER2 +82 more	Copy number gain	not provided	GUncertain significance
Select item 2685460	GRCh37/hg19 13q13.2(chr13:34355904-34420138)x1	RFC3	Copy number loss	not provided	GUncertain significance
Select item 1810291	GRCh37/hg19 13q12.3-13.3(chr13:31841196-36667007)x3	B3GLCT, BRCA2 +12 more	Copy number gain	not provided	Gnot provided
Select item 1808763	GRCh37/hg19 13q13.1-13.2(chr13:33504270-34507428)x4	KL, RFC3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	ABCC4, ABHD13 +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527762	GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)	AKAP11, ALG11 +127 more	Copy number loss	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	VPS36, VWA8 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 1341070	GRCh37/hg19 13q13.1-13.2(chr13:33890716-34512958)x3	RFC3, STARD13	Copy number gain	not provided	GUncertain significance
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	DACH1, IRS2 +332 more	Copy number gain	See cases	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	CENPJ, CHAMP1 +332 more	Copy number gain	See cases	GPathogenic
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	NUDT15, NUFIP1 +211 more	Copy number gain	not provided	GPathogenic
Select item 564022	GRCh37/hg19 13q13.2(chr13:34347960-34642138)x3	RFC3	Copy number gain	not provided	GUncertain significance
Select item 563993	GRCh37/hg19 13q13.2(chr13:34460725-34522513)x1	RFC3	Copy number loss	not provided	GLikely benign
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	FGF9, FLT1 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	CRYL1, CSNK1A1L +332 more	Copy number gain	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic

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Items: 64