RAB3C[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 57149	GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1	ACTBL2, ANKRD55 +269 more	Copy number loss	See cases	GPathogenic
Select item 144590	GRCh38/hg38 5q11.2-12.1(chr5:56947850-61725401)x3	ACTBL2, DEPDC1B +105 more	Copy number gain	See cases	GPathogenic
Select item 2485350	NM_138453.4(RAB3C):c.28G>A (p.Ala10Thr)	RAB3C (A10T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312151	NM_138453.4(RAB3C):c.48G>T (p.Arg16Ser)	RAB3C (R16S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312149	NM_138453.4(RAB3C):c.52G>A (p.Gly18Ser)	RAB3C (G16S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395359	NM_138453.4(RAB3C):c.83A>C (p.Asp28Ala)	RAB3C (D26A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150716	NM_138453.4(RAB3C):c.146G>A (p.Arg49His)	RAB3C (R47H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380838	NM_138453.4(RAB3C):c.169T>C (p.Ser57Pro)	RAB3C (S55P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328465	NM_138453.4(RAB3C):c.245A>C (p.Gln82Pro)	RAB3C (Q80P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LOC129993982, LOC129993983 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 3312148	NM_138453.4(RAB3C):c.440T>C (p.Met147Thr)	RAB3C (M145T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596076	NM_138453.4(RAB3C):c.475C>G (p.Gln159Glu)	RAB3C (Q157E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491635	NM_138453.4(RAB3C):c.503A>G (p.Glu168Gly)	RAB3C (E166G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150717	NM_138453.4(RAB3C):c.557G>A (p.Arg186His)	RAB3C (R184H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319158	NM_138453.4(RAB3C):c.602C>T (p.Thr201Ile)	RAB3C (T199I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150718	NM_138453.4(RAB3C):c.647A>C (p.Glu216Ala)	RAB3C (E216A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062842	GRCh37/hg19 5q11.1-11.2(chr5:49430268-57925870)x1	ACTBL2, ANKRD55 +35 more	Copy number loss	not specified	GLikely pathogenic
Select item 2684417	GRCh37/hg19 5q11.2(chr5:57769864-58521876)x3	GAPT, PDE4D +1 more	Copy number gain	not provided	GUncertain significance
Select item 685431	GRCh37/hg19 5q11.2(chr5:56283070-58079028)x1	ACTBL2, GAPT +3 more	Copy number loss	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563068	GRCh37/hg19 5q11.2(chr5:57842923-58069943)x3	RAB3C	Copy number gain	not provided	GLikely benign
Select item 563066	GRCh37/hg19 5q11.2(chr5:56574178-58587671)x1	RAB3C, ACTBL2 +3 more	Copy number loss	not provided	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic

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Items: 27