NUP37[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861418, LOC126861419 +4838 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 3408812	NM_024057.4(NUP37):c.953A>G (p.Lys318Arg)	NUP37 (K318R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370404	NM_024057.4(NUP37):c.948C>A (p.Asp316Glu)	NUP37 (D316E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297098	NM_024057.4(NUP37):c.944G>A (p.Gly315Glu)	NUP37 (G315E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301563	NM_024057.4(NUP37):c.938T>C (p.Ile313Thr)	NUP37 (I313T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476389	NM_024057.4(NUP37):c.920C>T (p.Thr307Ile)	NUP37 (T307I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203183	NM_024057.4(NUP37):c.917G>A (p.Arg306Gln)	NUP37 (R306Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 590329	NM_024057.4(NUP37):c.916C>T (p.Arg306Ter)	NUP37 (R306*)	Single nucleotide variant (nonsense)	Microcephaly 24, primary, autosomal recessive	GLikely pathogenic
Select item 3408814	NM_024057.4(NUP37):c.901G>C (p.Gly301Arg)	NUP37 (G301R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301560	NM_024057.4(NUP37):c.878T>C (p.Met293Thr)	NUP37 (M293T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3301558	NM_024057.4(NUP37):c.868C>A (p.Pro290Thr)	NUP37 (P290T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3408807	NM_024057.4(NUP37):c.764G>A (p.Cys255Tyr)	NUP37 (C255Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1049317	NM_024057.4(NUP37):c.740G>T (p.Arg247Ile)	NUP37 (R247I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3408813	NM_024057.4(NUP37):c.732A>C (p.Gln244His)	NUP37 (Q244H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042298	NM_024057.4(NUP37):c.723-7C>A	NUP37	Single nucleotide variant (intron variant)	NUP37-related disorder	GBenign
Select item 3408806	NM_024057.4(NUP37):c.715C>T (p.Arg239Trp)	NUP37 (R239W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034765	NM_024057.4(NUP37):c.679G>A (p.Val227Ile)	NUP37 (V227I)	Single nucleotide variant (missense variant)	NUP37-related disorder	GLikely benign
Select item 2522358	NM_024057.4(NUP37):c.601A>G (p.Ile201Val)	NUP37 (I201V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3408815	NM_024057.4(NUP37):c.535T>G (p.Phe179Val)	NUP37 (F179V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313429	NM_024057.4(NUP37):c.503G>T (p.Gly168Val)	NUP37 (G168V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245512	NM_024057.4(NUP37):c.497C>G (p.Ser166Cys)	NUP37 (S166C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1028291	NM_024057.4(NUP37):c.436G>A (p.Asp146Asn)	NUP37 (D146N)	Single nucleotide variant (missense variant)	Microcephaly 24, primary, autosomal recessive	GUncertain significance
Select item 3301559	NM_024057.4(NUP37):c.335A>G (p.Gln112Arg)	NUP37 (Q112R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037376	NM_024057.4(NUP37):c.315A>G (p.Arg105=)	NUP37	Single nucleotide variant (synonymous variant)	NUP37-related disorder	GBenign
Select item 3301562	NM_024057.4(NUP37):c.251C>T (p.Thr84Ile)	NUP37 (T84I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 807643	NM_024057.4(NUP37):c.225dup (p.Asp76Ter)	NUP37 (D76*)	Duplication (nonsense)	Microcephaly 24, primary, autosomal recessive	GPathogenic
Select item 2286389	NM_024057.4(NUP37):c.212A>G (p.His71Arg)	NUP37 (H71R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3408808	NM_024057.4(NUP37):c.172G>A (p.Val58Ile)	NUP37 (V58I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3038891	NM_024057.4(NUP37):c.156+9A>G	NUP37	Single nucleotide variant (intron variant)	NUP37-related disorder	GBenign
Select item 3039022	NM_024057.4(NUP37):c.156+7C>A	NUP37	Single nucleotide variant (intron variant)	NUP37-related disorder	GLikely benign
Select item 1685995	NM_024057.4(NUP37):c.153_156+3del	NUP37	Deletion (splice donor variant)	Microcephaly 24, primary, autosomal recessive	GPathogenic
Select item 2643243	NM_024057.4(NUP37):c.150G>A (p.Thr50=)	NUP37	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3203182	NM_024057.4(NUP37):c.149C>T (p.Thr50Met)	NUP37 (T50M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203181	NM_024057.4(NUP37):c.148A>G (p.Thr50Ala)	NUP37 (T50A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482111	NM_024057.4(NUP37):c.137T>C (p.Ile46Thr)	NUP37 (I46T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367479	NM_024057.4(NUP37):c.128A>G (p.Tyr43Cys)	NUP37 (Y43C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3392394	GRCh37/hg19 12q23.1-23.2(chr12:99848062-103511070)x1	SLC17A8, SLC5A8 +24 more	Copy number loss	not provided	GUncertain significance
Select item 3063248	GRCh37/hg19 12q23.2(chr12:102012266-102738384)x3	CHPT1, DRAM1 +7 more	Copy number gain	not specified	GUncertain significance
Select item 3063229	GRCh37/hg19 12q23.2(chr12:102488445-102583644)x1	NUP37, PARPBP	Copy number loss	not specified	GUncertain significance
Select item 1527728	GRCh37/hg19 12q23.1-23.3(chr12:100580198-105804075)	ACTR6, ALDH1L2 +39 more	Copy number gain	not specified	GUncertain significance
Select item 1527727	GRCh37/hg19 12q23.1-23.2(chr12:100564593-103021075)	ACTR6, ANO4 +19 more	Copy number loss	not specified	GUncertain significance
Select item 815550	GRCh37/hg19 12q23.2(chr12:101953283-102683945)x1	PARPBP, CHPT1 +7 more	Copy number loss	not provided	GUncertain significance
Select item 687657	GRCh37/hg19 12q23.2(chr12:102116591-102607083)x3	CHPT1, DRAM1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 686626	GRCh37/hg19 12q23.1-23.2(chr12:101447925-102593349)x3	ANO4, ARL1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 685970	GRCh37/hg19 12q23.2-23.3(chr12:102414522-105845768)x1	TXNRD1, UQCC6 +23 more	Copy number loss	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 49