ClinVar for Gene (Select 22862) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3096071	NM_001079673.2(FNDC3A):c.769G>A (p.Glu257Lys)	FNDC3A (E201K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096070	NM_001079673.2(FNDC3A):c.499T>G (p.Ser167Ala)	FNDC3A (S111A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096069	NM_001079673.2(FNDC3A):c.496C>T (p.His166Tyr)	FNDC3A (H166Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096068	NM_001079673.2(FNDC3A):c.3206G>C (p.Cys1069Ser)	FNDC3A (C1013S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096065	NM_001079673.2(FNDC3A):c.3122C>G (p.Thr1041Ser)	FNDC3A (T1041S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096064	NM_001079673.2(FNDC3A):c.2941A>G (p.Thr981Ala)	FNDC3A (T981A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3096063	NM_001079673.2(FNDC3A):c.2751T>G (p.Asn917Lys)	FNDC3A (N917K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096062	NM_001079673.2(FNDC3A):c.244G>A (p.Ala82Thr)	FNDC3A (A26T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096061	NM_001079673.2(FNDC3A):c.2366T>C (p.Val789Ala)	FNDC3A (V789A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096059	NM_001079673.2(FNDC3A):c.2053C>T (p.Pro685Ser)	FNDC3A (P629S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096058	NM_001079673.2(FNDC3A):c.1378T>C (p.Tyr460His)	FNDC3A (Y460H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096057	NM_001079673.2(FNDC3A):c.1366G>C (p.Glu456Gln)	FNDC3A (E400Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096055	NM_001079673.2(FNDC3A):c.1144C>T (p.Arg382Trp)	FNDC3A (R326W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063311	GRCh37/hg19 13q13.2-21.1(chr13:35015723-59553519)x3	AKAP11, ALG11 +117 more	Copy number gain	not specified	GPathogenic
Select item 3063283	GRCh37/hg19 13q14.11-21.2(chr13:44076923-60520078)x1	ALG11, ARL11 +77 more	Copy number loss	not specified	GPathogenic
Select item 3063279	GRCh37/hg19 13q14.2-32.2(chr13:49547974-98214905)x1	ABCC4, ACOD1 +102 more	Copy number loss	not specified	GPathogenic
Select item 3059720	NM_001079673.2(FNDC3A):c.3049A>G (p.Thr1017Ala)	FNDC3A (T1017A +1 more)	Single nucleotide variant (missense variant +1 more)	FNDC3A-related disorder	GBenign
Select item 3058642	NM_001079673.2(FNDC3A):c.2589C>T (p.Ser863=)	FNDC3A	Single nucleotide variant (synonymous variant +1 more)	FNDC3A-related disorder	GLikely benign
Select item 3046826	NM_001079673.2(FNDC3A):c.1221A>G (p.Glu407=)	FNDC3A	Single nucleotide variant (synonymous variant +1 more)	FNDC3A-related disorder	GLikely benign
Select item 3044836	NM_001079673.2(FNDC3A):c.2043A>G (p.Leu681=)	FNDC3A	Single nucleotide variant (synonymous variant)	FNDC3A-related disorder	GLikely benign
Select item 3043580	NM_001079673.2(FNDC3A):c.761-3A>T	FNDC3A	Single nucleotide variant (intron variant)	FNDC3A-related disorder	GLikely benign
Select item 3043275	NM_001079673.2(FNDC3A):c.1653A>G (p.Pro551=)	FNDC3A	Single nucleotide variant (synonymous variant +1 more)	FNDC3A-related disorder	GLikely benign
Select item 3037506	NM_001079673.2(FNDC3A):c.3132A>G (p.Lys1044=)	FNDC3A	Single nucleotide variant (synonymous variant +1 more)	FNDC3A-related disorder	GBenign
Select item 3024581	GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1	ZC3H13, AKAP11 +119 more	Copy number loss	not provided	GPathogenic
Select item 2643814	NM_001079673.2(FNDC3A):c.100-8T>C	FNDC3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2617366	NM_001079673.2(FNDC3A):c.2206C>T (p.Arg736Cys)	FNDC3A (R680C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617365	NM_001079673.2(FNDC3A):c.115G>A (p.Val39Ile)	FNDC3A (V39I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610561	NM_001079673.2(FNDC3A):c.536C>G (p.Ser179Cys)	FNDC3A (S123C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609859	NM_001079673.2(FNDC3A):c.481G>A (p.Gly161Arg)	FNDC3A (G161R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606933	NM_001079673.2(FNDC3A):c.3548T>G (p.Phe1183Cys)	FNDC3A (F1183C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605958	NM_001079673.2(FNDC3A):c.2100A>C (p.Glu700Asp)	FNDC3A (E644D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599960	NM_001079673.2(FNDC3A):c.2590G>A (p.Asp864Asn)	FNDC3A (D864N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558601	NM_001079673.2(FNDC3A):c.1579G>T (p.Val527Leu)	FNDC3A (V527L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556937	NM_001079673.2(FNDC3A):c.3113A>G (p.Tyr1038Cys)	FNDC3A (Y1038C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544544	NM_001079673.2(FNDC3A):c.59T>G (p.Leu20Arg)	FNDC3A (L20R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529999	NM_001079673.2(FNDC3A):c.679G>C (p.Ala227Pro)	FNDC3A (A171P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493924	NM_001079673.2(FNDC3A):c.1006G>A (p.Asp336Asn)	FNDC3A (D280N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491872	NM_001079673.2(FNDC3A):c.1507T>G (p.Leu503Val)	FNDC3A (L447V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483563	NM_001079673.2(FNDC3A):c.1879C>G (p.Arg627Gly)	FNDC3A (R571G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482087	NM_001079673.2(FNDC3A):c.404A>C (p.His135Pro)	FNDC3A (H135P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454622	NM_001079673.2(FNDC3A):c.3320G>A (p.Ser1107Asn)	FNDC3A (S1051N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407894	NM_001079673.2(FNDC3A):c.165G>C (p.Gln55His)	FNDC3A (Q55H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399510	NM_001079673.2(FNDC3A):c.3310C>T (p.Arg1104Trp)	FNDC3A (R1048W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398471	NM_001079673.2(FNDC3A):c.766G>C (p.Asp256His)	FNDC3A (D200H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385493	NM_001079673.2(FNDC3A):c.2210C>T (p.Ala737Val)	FNDC3A (A681V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377041	NM_001079673.2(FNDC3A):c.46A>G (p.Ser16Gly)	FNDC3A (S16G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367412	NM_001079673.2(FNDC3A):c.3494G>A (p.Arg1165Gln)	FNDC3A (R1109Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345253	NM_001079673.2(FNDC3A):c.355C>G (p.Leu119Val)	FNDC3A (L63V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333568	NM_001079673.2(FNDC3A):c.3506G>A (p.Ser1169Asn)	FNDC3A (S1169N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317737	NM_001079673.2(FNDC3A):c.1178C>T (p.Ala393Val)	FNDC3A (A337V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306324	NM_001079673.2(FNDC3A):c.2816T>C (p.Phe939Ser)	FNDC3A (F883S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296639	NM_001079673.2(FNDC3A):c.2289G>C (p.Lys763Asn)	FNDC3A (K707N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293230	NM_001079673.2(FNDC3A):c.584G>A (p.Gly195Glu)	FNDC3A (G195E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291384	NM_001079673.2(FNDC3A):c.881A>G (p.Asn294Ser)	FNDC3A (N238S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246483	NM_001079673.2(FNDC3A):c.1136T>C (p.Ile379Thr)	FNDC3A (I323T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237869	NM_001079673.2(FNDC3A):c.3425T>C (p.Leu1142Pro)	FNDC3A (L1142P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231171	NM_001079673.2(FNDC3A):c.1712C>T (p.Ser571Leu)	FNDC3A (S571L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231131	NM_001079673.2(FNDC3A):c.538A>T (p.Ser180Cys)	FNDC3A (S180C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210694	NM_001079673.2(FNDC3A):c.1142A>G (p.Asn381Ser)	FNDC3A (N325S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208752	NM_001079673.2(FNDC3A):c.742G>A (p.Val248Ile)	FNDC3A (V248I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	CCDC169-SOHLH2, CCDC70 +332 more	Copy number gain	not provided	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	PCID2, PCOTH +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527772	GRCh37/hg19 13q14.11-14.3(chr13:44573371-53324137)	ALG11, ARL11 +64 more	Copy number loss	not specified	GPathogenic
Select item 1527771	GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)	ACOD1, AKAP11 +120 more	Copy number loss	not specified	GPathogenic
Select item 1527766	GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753)	CLN5, CNMD +147 more	Copy number loss	not specified	GPathogenic
Select item 1527762	GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)	MIR16-1, MLNR +127 more	Copy number loss	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, DNAJC15 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	ZMYM5, SPATA13 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341277	GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3	DCT, DGKH +175 more	Copy number gain	not provided	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ARGLU1, FBXL3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1328110	GRCh37/hg19 13q14.13-21.31(chr13:45819046-63910212)x1	ATP7B, WDFY2 +70 more	Copy number loss	not provided	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	MRPL57, MRPS31 +332 more	Copy number gain	See cases	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	DGKH, DHRS12 +332 more	Copy number gain	See cases	GPathogenic
Select item 979369	GRCh37/hg19 13q14.12-14.3(chr13:45487628-52639336)x3	ALG11, ARL11 +54 more	Copy number gain	not provided	GLikely pathogenic
Select item 785446	NM_001079673.2(FNDC3A):c.319A>G (p.Ser107Gly)	FNDC3A (S51G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 781263	NM_001079673.2(FNDC3A):c.1752C>T (p.Thr584=)	FNDC3A	Single nucleotide variant (synonymous variant +1 more)	FNDC3A-related disorder +1 more	GBenign
Select item 768616	NM_001079673.2(FNDC3A):c.825C>T (p.Ser275=)	FNDC3A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 685867	GRCh37/hg19 13q14.2-21.2(chr13:49586017-61311845)x1	DLEU2, DLEU7 +45 more	Copy number loss	not provided	GUncertain significance
Select item 565290	Single allele	ALG11, ARL11 +50 more	Deletion	Intellectual disability	GLikely pathogenic
Select item 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	AKAP11, ALG11 +211 more	Copy number gain	not provided	GPathogenic
Select item 564068	GRCh37/hg19 13q14.2(chr13:48292731-50577868)x3	ARL11, CAB39L +19 more	Copy number gain	not provided	GUncertain significance
Select item 564036	GRCh37/hg19 13q14.2(chr13:49638092-50045664)x3	CDADC1, MLNR +3 more	Copy number gain	not provided	GUncertain significance
Select item 545122	NC_000013.11:g.46968080_87381985del40413906	ACOD1, ALG11 +530 more	Deletion	Chromosome 13q14 deletion syndrome	GPathogenic
Select item 443381	GRCh37/hg19 13q14.2-14.3(chr13:47312129-51342279)x1	ARL11, CAB39L +27 more	Copy number loss	See cases	GPathogenic
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	HTR2A, IFT88 +332 more	Copy number gain	See cases	GPathogenic
Select item 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	ABCC4, ABHD13 +332 more	Copy number gain	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 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 155510	GRCh38/hg38 13q14.2(chr13:48591738-50064488)x3	ARL11, CAB39L +50 more	Copy number gain	See cases	GUncertain significance
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	LINC00333, LINC00343 +2045 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC121838573, LOC121838574 +2028 more	Copy number gain	See cases	GPathogenic
Select item 154070	GRCh38/hg38 13q14.2-21.31(chr13:47765202-62058520)x1	LOC124900143, LOC124900144 +266 more	Copy number loss	See cases	GPathogenic
Select item 152159	GRCh38/hg38 13q13.3-14.3(chr13:38514177-51425214)x1	AKAP11, ARL11 +437 more	Copy number loss	See cases	GPathogenic
Select item 152095	GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1	AKAP11, ALG11 +612 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130010147, LOC130010148 +2049 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	URAD, USP12 +2024 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	DNAJC15, EBPL +938 more	Copy number gain	See cases	GPathogenic

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