RAB11A[gene] - ClinVar

Search results

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057806, LOC130057807 +1763 more	Copy number gain	See cases	GPathogenic
Select item 58573	GRCh38/hg38 15q22.31(chr15:64448836-65975439)x3	ANKDD1A, CILP +97 more	Copy number gain	See cases	GPathogenic
Select item 1050179	NC_000015.10:g.65867479G>C	RAB11A	Single nucleotide variant	not provided	GUncertain significance
Select item 1702676	NM_004663.5(RAB11A):c.10C>T (p.Arg4Cys)	RAB11A (R4C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1530161	NM_004663.5(RAB11A):c.12C>A (p.Arg4=)	RAB11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2582155	NM_004663.5(RAB11A):c.18C>G (p.Asp6Glu)	RAB11A (D6E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1967385	NM_004663.5(RAB11A):c.33C>A (p.Leu11=)	RAB11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1644252	NM_004663.5(RAB11A):c.33C>T (p.Leu11=)	RAB11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1555004	NM_004663.5(RAB11A):c.40+18C>G	RAB11A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1565259	NM_004663.5(RAB11A):c.41-19G>A	RAB11A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2769997	NM_004663.5(RAB11A):c.41-14C>T	RAB11A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991927	NM_004663.5(RAB11A):c.69A>C (p.Gly23=)	RAB11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873274	NM_004663.5(RAB11A):c.90A>G (p.Arg30=)	RAB11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1359676	NM_004663.5(RAB11A):c.97C>T (p.Arg33Ter)	RAB11A (R33*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2759469	NM_004663.5(RAB11A):c.104A>C (p.Glu35Ala)	RAB11A (E35A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2507121	NM_004663.5(RAB11A):c.122A>G (p.Lys41Arg)	RAB11A (K41R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580656	NM_004663.5(RAB11A):c.127A>G (p.Thr43Ala)	RAB11A (T43A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1531315	NM_004663.5(RAB11A):c.129C>G (p.Thr43=)	RAB11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1905679	NM_004663.5(RAB11A):c.138A>C (p.Val46=)	RAB11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2772430	NM_004663.5(RAB11A):c.149C>T (p.Thr50Ile)	RAB11A (T50I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2694267	NM_004663.5(RAB11A):c.152G>C (p.Arg51Thr)	RAB11A (R51T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2781282	NM_004663.5(RAB11A):c.165T>C (p.Val55=)	RAB11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1707977	NM_004663.5(RAB11A):c.200C>T (p.Thr67Ile)	RAB11A (T67I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2128057	NM_004663.5(RAB11A):c.201A>C (p.Thr67=)	RAB11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1666472	NM_004663.5(RAB11A):c.210A>G (p.Gln70=)	RAB11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2697121	NM_004663.5(RAB11A):c.216A>C (p.Arg72=)	RAB11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2127705	NM_004663.5(RAB11A):c.236+7C>T	RAB11A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1668562	NM_004663.5(RAB11A):c.236+14T>C	RAB11A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2098903	NM_004663.5(RAB11A):c.236+19A>C	RAB11A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280993	NM_004663.5(RAB11A):c.237-20A>G	RAB11A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1532467	NM_004663.5(RAB11A):c.237-11T>C	RAB11A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2096048	NM_004663.5(RAB11A):c.237-3C>T	RAB11A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1594426	NM_004663.5(RAB11A):c.265T>C (p.Leu89=)	RAB11A	Single nucleotide variant (synonymous variant)	RAB11A-related disorder +1 more	GBenign/Likely benign
Select item 2796021	NM_004663.5(RAB11A):c.272A>T (p.Tyr91Phe)	RAB11A (Y91F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1599543	NM_004663.5(RAB11A):c.282T>A (p.Ala94=)	RAB11A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2059808	NM_004663.5(RAB11A):c.291C>T (p.Leu97=)	RAB11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1534279	NM_004663.5(RAB11A):c.294A>T (p.Thr98=)	RAB11A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1508412	NM_004663.5(RAB11A):c.294A>G (p.Thr98=)	RAB11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978112	NM_004663.5(RAB11A):c.309G>A (p.Glu103=)	RAB11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2833352	NM_004663.5(RAB11A):c.310C>T (p.Arg104Ter)	RAB11A (R104*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2600318	NM_004663.5(RAB11A):c.331G>A (p.Asp111Asn)	RAB11A (D111N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2504376	NM_004663.5(RAB11A):c.334C>G (p.His112Asp)	RAB11A (H112D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2031464	NM_004663.5(RAB11A):c.334C>A (p.His112Asn)	RAB11A (H112N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2430281	NM_004663.5(RAB11A):c.335A>G (p.His112Arg)	RAB11A (H112R)	Single nucleotide variant (missense variant)	Intellectual disability, mild +6 more	GLikely pathogenic
Select item 2989882	NM_004663.5(RAB11A):c.349A>G (p.Ile117Val)	RAB11A (I117V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1614468	NM_004663.5(RAB11A):c.363T>C (p.Leu121=)	RAB11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1576772	NM_004663.5(RAB11A):c.375G>A (p.Lys125=)	RAB11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1596709	NM_004663.5(RAB11A):c.384A>G (p.Leu128=)	RAB11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1810502	NM_004663.5(RAB11A):c.410A>T (p.Asp137Val)	RAB11A (D137V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2758504	NM_004663.5(RAB11A):c.421G>A (p.Ala141Thr)	RAB11A (A141T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2911693	NM_004663.5(RAB11A):c.429A>C (p.Ala143=)	RAB11A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1722920	NM_004663.5(RAB11A):c.430G>C (p.Glu144Gln)	RAB11A (E144Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2697279	NM_004663.5(RAB11A):c.430+4A>G	RAB11A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1639584	NM_004663.5(RAB11A):c.431-16T>C	RAB11A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1540742	NM_004663.5(RAB11A):c.431-14G>A	RAB11A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1628121	NM_004663.5(RAB11A):c.431-5del	RAB11A	Deletion (intron variant)	not provided	GBenign
Select item 2098526	NM_004663.5(RAB11A):c.431-6C>T	RAB11A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2866651	NM_004663.5(RAB11A):c.438T>C (p.Asn146=)	RAB11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1574930	NM_004663.5(RAB11A):c.444G>A (p.Leu148=)	RAB11A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2985247	NM_004663.5(RAB11A):c.451A>G (p.Ile151Val)	RAB11A (I151V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2027829	NM_004663.5(RAB11A):c.456A>G (p.Glu152=)	RAB11A	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2582937	NM_004663.5(RAB11A):c.461C>T (p.Ser154Leu)	RAB11A (S154L)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 1640648	NM_004663.5(RAB11A):c.462G>A (p.Ser154=)	RAB11A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1535624	NM_004663.5(RAB11A):c.488C>G (p.Ala163Gly)	RAB11A (A163G)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2759462	NM_004663.5(RAB11A):c.500C>A (p.Thr167Lys)	RAB11A (T167K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1643174	NM_004663.5(RAB11A):c.511+10G>A	RAB11A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1648233	NM_004663.5(RAB11A):c.511+18A>C	RAB11A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1563162	NM_004663.5(RAB11A):c.511+19G>C	RAB11A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1636446	NM_004663.5(RAB11A):c.511+20A>G	RAB11A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1532706	NM_004663.5(RAB11A):c.512-20T>G	RAB11A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2126546	NM_004663.5(RAB11A):c.517T>C (p.Tyr173His)	RAB11A (Y173H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2995906	NM_004663.5(RAB11A):c.521G>A (p.Arg174His)	RAB11A (R174H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1998695	NM_004663.5(RAB11A):c.540A>C (p.Gln180His)	RAB11A (Q180H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2786359	NM_004663.5(RAB11A):c.553C>T (p.Arg185Cys)	RAB11A (R185C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2990804	NM_004663.5(RAB11A):c.554G>A (p.Arg185His)	RAB11A (R185H)	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1649300	NM_004663.5(RAB11A):c.555C>T (p.Arg185=)	RAB11A (R154*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign
Select item 1646746	NM_004663.5(RAB11A):c.574A>C (p.Ser192Arg)	RAB11A (S192R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1486840	NM_004663.5(RAB11A):c.575G>A (p.Ser192Asn)	RAB11A (S192N)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2196524	NM_004663.5(RAB11A):c.581A>G (p.Asn194Ser)	RAB11A (N194S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1585596	NM_004663.5(RAB11A):c.585G>A (p.Val195=)	RAB11A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1599349	NM_004663.5(RAB11A):c.591T>G (p.Pro197=)	RAB11A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2218269	NM_004663.5(RAB11A):c.598G>A (p.Val200Ile)	RAB11A (V200I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1346944	NM_004663.5(RAB11A):c.610A>G (p.Thr204Ala)	RAB11A (T204A)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2115420	NM_004663.5(RAB11A):c.617A>G (p.Asn206Ser)	RAB11A (N206S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2807708	NM_004663.5(RAB11A):c.624A>C (p.Pro208=)	RAB11A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1973578	NM_004663.5(RAB11A):c.650A>G (p.Ter217=)	RAB11A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1512687	NC_000015.9:g.(?_66161924)_(69018313_?)dup	CLN6, CORO2B +21 more	Duplication	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 560063	Single allele	ANKDD1A, APH1B +40 more	Deletion	Nemaline myopathy 6	GLikely pathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	TRPM7, TSPAN3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +279 more	Copy number gain	See cases	GPathogenic

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Items: 96