ClinVar for Gene (Select 9818) - ClinVar

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Links from Gene

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3203224	NM_014089.4(NUP58):c.316A>G (p.Thr106Ala)	NUP58 (T94A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203223	NM_014089.4(NUP58):c.175C>G (p.Pro59Ala)	NUP58 (P59A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203222	NM_014089.4(NUP58):c.1751T>A (p.Leu584His)	NUP58 (L572H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203221	NM_014089.4(NUP58):c.148A>C (p.Thr50Pro)	NUP58 (T50P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203220	NM_014089.4(NUP58):c.146G>A (p.Ser49Asn)	NUP58 (S49N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203219	NM_014089.4(NUP58):c.1234G>A (p.Val412Ile)	NUP58 (V412I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203218	NM_014089.4(NUP58):c.1138A>G (p.Ile380Val)	NUP58 (I368V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148850	GRCh37/hg19 13q11-13.3(chr13:19436287-36278224)x3	ALOX5AP, AMER2 +82 more	Copy number gain	not provided	GUncertain significance
Select item 3063305	GRCh37/hg19 13q12.12-12.2(chr13:23329180-28663294)x3	AMER2, ATP12A +33 more	Copy number gain	not specified	GUncertain significance
Select item 2620556	NM_014089.4(NUP58):c.113C>A (p.Pro38His)	NUP58 (P38H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601257	NM_014089.4(NUP58):c.422C>G (p.Thr141Arg)	NUP58 (T129R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597397	NM_014089.4(NUP58):c.548T>G (p.Phe183Cys)	NUP58 (F171C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556758	NM_014089.4(NUP58):c.317C>G (p.Thr106Arg)	NUP58 (T106R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544047	NM_014089.4(NUP58):c.518G>A (p.Gly173Glu)	NUP58 (G173E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539894	NM_014089.4(NUP58):c.538G>A (p.Gly180Ser)	NUP58 (G180S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538333	NM_014089.4(NUP58):c.521C>A (p.Ala174Asp)	NUP58 (A162D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527689	NM_014089.4(NUP58):c.866C>T (p.Ala289Val)	NUP58 (A277V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522493	NM_014089.4(NUP58):c.418C>G (p.Leu140Val)	NUP58 (L140V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460190	NM_014089.4(NUP58):c.1307G>A (p.Arg436Gln)	NUP58 (R424Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455379	NM_014089.4(NUP58):c.623C>A (p.Thr208Asn)	NUP58 (T208N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426474	NC_000013.10:g.(?_24293859)_(26594123_?)del	AMER2, ATP12A +12 more	Deletion	not provided	GPathogenic
Select item 2383987	NM_014089.4(NUP58):c.555T>A (p.Ser185Arg)	NUP58 (S173R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372981	NM_014089.4(NUP58):c.352T>A (p.Ser118Thr)	NUP58 (S106T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361361	NM_014089.4(NUP58):c.271A>T (p.Thr91Ser)	NUP58 (T91S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338353	NM_014089.4(NUP58):c.1346C>G (p.Thr449Ser)	NUP58 (T449S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305835	NM_014089.4(NUP58):c.731A>G (p.Asp244Gly)	NUP58 (D244G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299102	NM_014089.4(NUP58):c.257C>T (p.Ala86Val)	NUP58 (A86V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276848	NM_014089.4(NUP58):c.1571C>G (p.Thr524Arg)	NUP58 (T524R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276517	NM_014089.4(NUP58):c.689A>G (p.Asp230Gly)	NUP58 (D230G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ARGLU1, FBXL3 +332 more	Copy number gain	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 979362	GRCh37/hg19 13q12.12-12.3(chr13:23775339-30534624)x3	AMER2, GTF3A +40 more	Copy number gain	not provided	GLikely pathogenic
Select item 778451	NM_014089.4(NUP58):c.1143C>G (p.Thr381=)	NUP58	Single nucleotide variant (synonymous variant)	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 686932	GRCh37/hg19 13q12.11-12.13(chr13:20069228-27474401)x3	AMER2, ATP12A +40 more	Copy number gain	not provided	GPathogenic
Select item 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	AKAP11, ALG11 +211 more	Copy number gain	not provided	GPathogenic
Select item 523170	GRCh37/hg19 13q12.12-13.2(chr13:24080918-34361992)x1	PARP4, PCOTH +56 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443856	GRCh37/hg19 13q12.12-12.13(chr13:23552966-27027909)x1	AMER2, ATP12A +18 more	Copy number loss	See cases	GLikely pathogenic
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 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
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 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	ALOX5AP, AMER2 +488 more	Copy number gain	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 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC130009528, LOC130009529 +620 more	Copy number gain	See cases	GPathogenic
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	LOC121466733, LOC121468000 +2048 more	Copy number loss	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LINC00462, LINC00463 +2021 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	USPL1, WASF3 +415 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC112163664, LOC112163665 +2040 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	LOC130009909, LOC130009910 +2044 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	PDS5B, PDX1 +566 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009360, LOC130009361 +2047 more	Copy number gain	See cases	GPathogenic
Select item 58236	GRCh38/hg38 13q12.12-12.13(chr13:24635449-25592788)x3	AMER2, ATP12A +32 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 63