NUP35[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 147705	GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1	AGPS, ATF2 +307 more	Copy number loss	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	ABI2, AGPS +697 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	LOC129935258, LOC129935259 +312 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 58772	GRCh38/hg38 2q31.2-32.1(chr2:178880151-185352829)x1	CCDC141, CERKL +104 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	LOC129935413, LOC129935414 +1097 more	Copy number gain	See cases	GPathogenic
Select item 148022	GRCh38/hg38 2q31.3-32.1(chr2:180942902-187372388)x1	CALCRL, CALCRL-AS1 +88 more	Copy number loss	See cases	GPathogenic
Select item 149200	GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1	ANKAR, ASDURF +191 more	Copy number loss	See cases	GPathogenic
Select item 549583	NC_000002.12:g.183054447_183247902dup	DUSP19, LOC129935223 +1 more	Duplication	Primary amenorrhea	GLikely benign
Select item 2469996	NM_138285.5(NUP35):c.41G>T (p.Gly14Val)	NUP35 (G14V)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2334140	NM_138285.5(NUP35):c.286G>A (p.Asp96Asn)	NUP35 (D79N +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2590717	NM_138285.5(NUP35):c.291C>G (p.Asp97Glu)	NUP35 (D80E +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2403370	NM_138285.5(NUP35):c.437G>A (p.Arg146Gln)	NUP35 (R129Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351053	NM_138285.5(NUP35):c.610A>G (p.Met204Val)	NUP35 (M204V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2211036	NM_138285.5(NUP35):c.633G>A (p.Met211Ile)	NUP35 (M211I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2235161	NM_138285.5(NUP35):c.662C>T (p.Ala221Val)	NUP35 (A103V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2351140	NM_138285.5(NUP35):c.734A>C (p.Asp245Ala)	NUP35 (D127A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2321620	NM_138285.5(NUP35):c.824C>T (p.Thr275Ile)	NUP35 (T275I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2262409	NM_138285.5(NUP35):c.854C>T (p.Thr285Ile)	NUP35 (T167I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2685868	GRCh37/hg19 2q32.1(chr2:183772883-184373432)x3	DUSP19, NCKAP1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1809147	GRCh37/hg19 2q32.1(chr2:183206179-184174590)x3	DNAJC10, DUSP19 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1809107	GRCh37/hg19 2q32.1(chr2:183070475-186717885)x3	DNAJC10, DUSP19 +6 more	Copy number gain	not provided	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 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1460270	NC_000002.11:g.(?_183790430)_(184025859_?)del	DUSP19, NCKAP1 +1 more	Deletion	not provided	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 973060	GRCh37/hg19 2q32.1(chr2:183764930-187399282)x1	DUSP19, FSIP2 +4 more	Copy number loss	not provided	Gnot provided
Select item 814347	GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1	AGPS, ANKAR +86 more	Copy number loss	not provided	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 685829	GRCh37/hg19 2q31.1-32.1(chr2:173538954-186401606)x1	AGPS, ATF2 +56 more	Copy number loss	not provided	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 252975	GRCh37/hg19 2q31.1-32.3(chr2:177315153-196375520)x1	AGPS, ANKAR +62 more	Copy number loss	See cases	GPathogenic

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Items: 38