RAB11B-AS1[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic
Select item 545228	Single allele	ZNF562, ZNF699 +132 more	Duplication	Autism	GLikely pathogenic
Select item 1277552	NR_038237.1(RAB11B-AS1):n.578A>C	RAB11B, RAB11B-AS1	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 2886607	NM_004218.4(RAB11B):c.6G>T (p.Gly2=)	RAB11B, RAB11B-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2957856	NM_004218.4(RAB11B):c.7A>G (p.Thr3Ala)	RAB11B, RAB11B-AS1 (T3A)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1601717	NM_004218.4(RAB11B):c.11G>A (p.Arg4Gln)	RAB11B, RAB11B-AS1 (R4Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1164472	NM_004218.4(RAB11B):c.12G>A (p.Arg4=)	RAB11B, RAB11B-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign/Likely benign
Select item 1386266	NM_004218.4(RAB11B):c.15C>G (p.Asp5Glu)	RAB11B, RAB11B-AS1 (D5E)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2872812	NM_004218.4(RAB11B):c.19G>A (p.Glu7Lys)	RAB11B, RAB11B-AS1 (E7K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2964644	NM_004218.4(RAB11B):c.30C>T (p.Tyr10=)	RAB11B, RAB11B-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1904841	NM_004218.4(RAB11B):c.33A>G (p.Leu11=)	RAB11B, RAB11B-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	RAB11B-related disorder +1 more	GLikely benign
Select item 2841911	NM_004218.4(RAB11B):c.34T>C (p.Phe12Leu)	RAB11B, RAB11B-AS1 (F12L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1983857	NM_004218.4(RAB11B):c.40+4del	RAB11B, RAB11B-AS1	Deletion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1481041	NM_004218.4(RAB11B):c.40+6G>C	RAB11B, RAB11B-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 781382	NM_004218.4(RAB11B):c.40+6G>T	RAB11B, RAB11B-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 1610479	NM_004218.4(RAB11B):c.40+7C>T	RAB11B, RAB11B-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2028213	NM_004218.4(RAB11B):c.40+9G>A	RAB11B-AS1, RAB11B	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2025456	NM_004218.4(RAB11B):c.40+10G>A	RAB11B, RAB11B-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1651180	NM_004218.4(RAB11B):c.40+13G>T	RAB11B, RAB11B-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1953981	NM_004218.4(RAB11B):c.40+15G>A	RAB11B, RAB11B-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1538114	NM_004218.4(RAB11B):c.40+15G>T	RAB11B, RAB11B-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign

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Items: 21