RAB42[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic
Select item 148510	GRCh38/hg38 1p35.3(chr1:27919199-28607226)x3	ATP5IF1, DNAJC8 +51 more	Copy number gain	See cases	GUncertain significance
Select item 148584	GRCh38/hg38 1p35.3(chr1:28298657-28634562)x1	LOC112577575, LOC112577576 +24 more	Copy number loss	See cases	GUncertain significance
Select item 146124	GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1	LOC129929998, LOC129929999 +293 more	Copy number loss	See cases	GPathogenic
Select item 2375963	NM_001193532.3(RAB42):c.67A>C (p.Thr23Pro)	RAB42 (T23P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492327	NM_001193532.3(RAB42):c.103G>A (p.Gly35Ser)	RAB42 (G35S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150797	NM_001193532.3(RAB42):c.126G>C (p.Glu42Asp)	RAB42 (E42D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385495	NM_001193532.3(RAB42):c.181G>A (p.Gly61Arg)	RAB42 (G61R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3338225	NM_001193532.3(RAB42):c.223G>A (p.Glu75Lys)	RAB42 (E75K)	Single nucleotide variant (missense variant +1 more)	Autism	GUncertain significance
Select item 2595056	NM_001193532.3(RAB42):c.257G>A (p.Arg86Gln)	RAB42 (R86Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3150798	NM_001193532.3(RAB42):c.321A>C (p.Gln107His)	RAB42 (Q107H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3312192	NM_001193532.3(RAB42):c.446C>T (p.Ala149Val)	RAB42 (A149V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307432	NM_001193532.3(RAB42):c.469G>C (p.Glu157Gln)	RAB42 (E157Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150799	NM_001193532.3(RAB42):c.572G>T (p.Gly191Val)	RAB42 (G191V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616386	NM_001193532.3(RAB42):c.593T>C (p.Ile198Thr)	RAB42 (I85T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150800	NM_001193532.3(RAB42):c.615G>T (p.Arg205Ser)	RAB42 (R205S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412008	NM_001193532.3(RAB42):c.617C>A (p.Ser206Tyr)	RAB42 (S93Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1526540	GRCh37/hg19 1p36.11-35.1(chr1:27543877-32819121)	GPR3, PTPRU +66 more	Copy number gain	not specified	GUncertain significance
Select item 1340314	GRCh37/hg19 1p35.3(chr1:28493687-29242679)x1	ATP5IF1, DNAJC8 +14 more	Copy number loss	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395385	GRCh37/hg19 1p35.3(chr1:28891341-28969495)x3	RAB42, TAF12 +1 more	Copy number gain	See cases	GLikely benign
Select item 395120	GRCh37/hg19 1p35.3(chr1:28666901-28929761)x3	PHACTR4, RAB42 +5 more	Copy number gain	See cases	GUncertain significance
Select item 394932	GRCh37/hg19 1p35.3(chr1:28891341-28939710)x3	RAB42, TAF12 +1 more	Copy number gain	See cases	GLikely benign
Select item 253760	GRCh37/hg19 1p35.3(chr1:28292253-28969539)x3	RCC1, EYA3 +12 more	Copy number gain	See cases	GUncertain significance

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Items: 28