20296[HGNC] - ClinVar - NCBI

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	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 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 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 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 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 144214	GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1	LINC00400, LINC02333 +604 more	Copy number loss	See cases	GPathogenic
Select item 152095	GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1	LOC130009665, LOC130009659 +612 more	Copy number loss	See cases	GPathogenic
Select item 152159	GRCh38/hg38 13q13.3-14.3(chr13:38514177-51425214)x1	LOC126861769, LOC126861770 +437 more	Copy number loss	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 147318	GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1	LOC130009942, LOC130009943 +733 more	Copy number loss	See cases	GPathogenic
Select item 144462	GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3	ALG11, ARL11 +729 more	Copy number gain	See cases	GPathogenic
Select item 57643	GRCh38/hg38 13q14.11-14.2(chr13:43505396-49983668)x1	LOC126861771, LOC126861772 +215 more	Copy number loss	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009917, LOC130009918 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ARHGEF7-AS1, ARHGEF7-AS2 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57227	GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1	LOC130009879, LOC130009880 +657 more	Copy number loss	See cases	GPathogenic
Select item 545122	NC_000013.11:g.46968080_87381985del40413906	ACOD1, ALG11 +530 more	Deletion	Chromosome 13q14 deletion syndrome	GPathogenic
Select item 147464	GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1	OBI1-AS1, OLFM4 +513 more	Copy number loss	See cases	GPathogenic
Select item 154070	GRCh38/hg38 13q14.2-21.31(chr13:47765202-62058520)x1	ALG11, ARL11 +266 more	Copy number loss	See cases	GPathogenic
Select item 147435	GRCh38/hg38 13q14.2-14.3(chr13:48307302-50927473)x1	ARL11, CAB39L +101 more	Copy number loss	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 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 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 2643814	NM_001079673.2(FNDC3A):c.100-8T>C	FNDC3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 3279409	NM_001079673.2(FNDC3A):c.578G>T (p.Arg193Leu)	FNDC3A (R137L +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 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 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 3043580	NM_001079673.2(FNDC3A):c.761-3A>T	FNDC3A	Single nucleotide variant (intron variant)	FNDC3A-related disorder	GLikely benign
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 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 768616	NM_001079673.2(FNDC3A):c.825C>T (p.Ser275=)	FNDC3A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 3279408	NM_001079673.2(FNDC3A):c.965A>G (p.Lys322Arg)	FNDC3A (K266R +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 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 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 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 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 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 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 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 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 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 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 2231171	NM_001079673.2(FNDC3A):c.1712C>T (p.Ser571Leu)	FNDC3A (S571L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 781263	NM_001079673.2(FNDC3A):c.1752C>T (p.Thr584=)	FNDC3A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 3279406	NM_001079673.2(FNDC3A):c.1936C>G (p.Gln646Glu)	FNDC3A (Q590E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 3279404	NM_001079673.2(FNDC3A):c.2168G>A (p.Ser723Asn)	FNDC3A (S667N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 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 3279410	NM_001079673.2(FNDC3A):c.2509G>A (p.Ala837Thr)	FNDC3A (A781T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 3279411	NM_001079673.2(FNDC3A):c.2750A>G (p.Asn917Ser)	FNDC3A (N861S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 3279407	NM_001079673.2(FNDC3A):c.2944G>A (p.Asp982Asn)	FNDC3A (D926N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 3037506	NM_001079673.2(FNDC3A):c.3132A>G (p.Lys1044=)	FNDC3A	Single nucleotide variant (synonymous variant +1 more)	FNDC3A-related disorder	GBenign
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 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 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 3279405	NM_001079673.2(FNDC3A):c.3382C>G (p.Leu1128Val)	FNDC3A (L1072V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 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 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 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

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