9761[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 545228	Single allele	ZNF562, ZNF699 +132 more	Duplication	Autism	GLikely pathogenic
Select item 1277552	NC_000019.10:g.8390114T>G	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-AS1, RAB11B	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	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	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	GBenign
Select item 2028213	NM_004218.4(RAB11B):c.40+9G>A	RAB11B, RAB11B-AS1	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
Select item 1275947	NM_004218.4(RAB11B):c.41-94G>A	RAB11B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1658850	NM_004218.4(RAB11B):c.41-15C>T	RAB11B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1927566	NM_004218.4(RAB11B):c.41-14G>A	RAB11B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1898802	NM_004218.4(RAB11B):c.41-11T>C	RAB11B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2823262	NM_004218.4(RAB11B):c.41-9C>T	RAB11B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1993046	NM_004218.4(RAB11B):c.41-8C>T	RAB11B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1632425	NM_004218.4(RAB11B):c.41-7C>T	RAB11B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1565379	NM_004218.4(RAB11B):c.41-6G>A	RAB11B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1328595	NM_004218.4(RAB11B):c.41-2A>G	RAB11B	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3236551	NM_004218.4(RAB11B):c.43G>A (p.Val15Met)	RAB11B (V15M)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	GUncertain significance
Select item 2845126	NM_004218.4(RAB11B):c.45G>A (p.Val15=)	RAB11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980459	NM_004218.4(RAB11B):c.48C>T (p.Leu16=)	RAB11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1564153	NM_004218.4(RAB11B):c.51C>T (p.Ile17=)	RAB11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2063719	NM_004218.4(RAB11B):c.54G>C (p.Gly18=)	RAB11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2051506	NM_004218.4(RAB11B):c.63C>T (p.Gly21=)	RAB11B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 453254	NM_004218.4(RAB11B):c.64G>A (p.Val22Met)	RAB11B (V22M)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	GPathogenic/Likely pathogenic
Select item 2812058	NM_004218.4(RAB11B):c.66G>A (p.Val22=)	RAB11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1628757	NM_004218.4(RAB11B):c.78C>T (p.Asn26=)	RAB11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2701839	NM_004218.4(RAB11B):c.81G>C (p.Leu27=)	RAB11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1660911	NM_004218.4(RAB11B):c.81G>A (p.Leu27=)	RAB11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1606453	NM_004218.4(RAB11B):c.82C>T (p.Leu28=)	RAB11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3235921	NM_004218.4(RAB11B):c.85T>C (p.Ser29Pro)	RAB11B (S29P)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	GLikely pathogenic
Select item 2708140	NM_004218.4(RAB11B):c.86C>T (p.Ser29Leu)	RAB11B (S29L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1567163	NM_004218.4(RAB11B):c.87G>A (p.Ser29=)	RAB11B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2909486	NM_004218.4(RAB11B):c.93C>T (p.Phe31=)	RAB11B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2066934	NM_004218.4(RAB11B):c.110A>C (p.Asn37Thr)	RAB11B (N37T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1905230	NM_004218.4(RAB11B):c.132C>T (p.Ile44=)	RAB11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981440	NM_004218.4(RAB11B):c.135C>T (p.Gly45=)	RAB11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1587183	NM_004218.4(RAB11B):c.159C>T (p.Ile53=)	RAB11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1554928	NM_004218.4(RAB11B):c.165G>A (p.Val55=)	RAB11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2190340	NM_004218.4(RAB11B):c.168C>T (p.Asp56=)	RAB11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2197052	NM_004218.4(RAB11B):c.169G>A (p.Gly57Ser)	RAB11B (G57S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2729402	NM_004218.4(RAB11B):c.170G>A (p.Gly57Asp)	RAB11B (G57D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337505	NM_004218.4(RAB11B):c.196G>T (p.Asp66Tyr)	RAB11B (D66Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2060214	NM_004218.4(RAB11B):c.201C>T (p.Thr67=)	RAB11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2744827	NM_004218.4(RAB11B):c.202G>T (p.Ala68Ser)	RAB11B (A68S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 453255	NM_004218.4(RAB11B):c.202G>A (p.Ala68Thr)	RAB11B (A68T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3252751	NM_004218.4(RAB11B):c.214C>T (p.Arg72Cys)	RAB11B (R72C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2796610	NM_004218.4(RAB11B):c.220C>T (p.Arg74Cys)	RAB11B (R74C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2770910	NM_004218.4(RAB11B):c.220C>G (p.Arg74Gly)	RAB11B (R74G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1902881	NM_004218.4(RAB11B):c.222C>T (p.Arg74=)	RAB11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2780426	NM_004218.4(RAB11B):c.223G>A (p.Ala75Thr)	RAB11B (A75T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1575035	NM_004218.4(RAB11B):c.234C>T (p.Ser78=)	RAB11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998972	NM_004218.4(RAB11B):c.236+4C>T	RAB11B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1435675	NM_004218.4(RAB11B):c.236+4C>A	RAB11B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2412942	NM_004218.4(RAB11B):c.236+5G>A	RAB11B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1927474	NM_004218.4(RAB11B):c.236+7G>C	RAB11B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1898771	NM_004218.4(RAB11B):c.236+9C>T	RAB11B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1556721	NM_004218.4(RAB11B):c.236+10G>C	RAB11B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1275039	NM_004218.4(RAB11B):c.236+141G>A	RAB11B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1341768	NM_004218.4(RAB11B):c.236+414C>T	RAB11B	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	GUncertain significance
Select item 1277316	NM_004218.4(RAB11B):c.237-179G>C	RAB11B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277288	NM_004218.4(RAB11B):c.237-178G>A	RAB11B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1998707	NM_004218.4(RAB11B):c.237-20_237-8del	RAB11B	Deletion (intron variant)	not provided	GUncertain significance
Select item 2975814	NM_004218.4(RAB11B):c.237-15C>T	RAB11B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1998708	NM_004218.4(RAB11B):c.237-8C>A	RAB11B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1119683	NM_004218.4(RAB11B):c.237-7C>G	RAB11B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2571028	NM_004218.4(RAB11B):c.237-2A>T	RAB11B	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1666689	NM_004218.4(RAB11B):c.249T>C (p.Gly83=)	RAB11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2782725	NM_004218.4(RAB11B):c.252A>G (p.Ala84=)	RAB11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2182841	NM_004218.4(RAB11B):c.252del (p.Val85fs)	RAB11B (V85fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 790203	NM_004218.4(RAB11B):c.258C>T (p.Gly86=)	RAB11B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2985517	NM_004218.4(RAB11B):c.264G>A (p.Leu88=)	RAB11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1546467	NM_004218.4(RAB11B):c.270G>A (p.Val90=)	RAB11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1630666	NM_004218.4(RAB11B):c.273C>T (p.Tyr91=)	RAB11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2691003	NM_004218.4(RAB11B):c.274G>A (p.Asp92Asn)	RAB11B (D92N)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	GUncertain significance
Select item 2916294	NM_004218.4(RAB11B):c.279C>T (p.Ile93=)	RAB11B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1898908	NM_004218.4(RAB11B):c.279C>A (p.Ile93=)	RAB11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1416113	NM_004218.4(RAB11B):c.280G>A (p.Ala94Thr)	RAB11B (A94T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2704305	NM_004218.4(RAB11B):c.288C>T (p.His96=)	RAB11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1627062	NM_004218.4(RAB11B):c.303C>T (p.Asn101=)	RAB11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2124703	NM_004218.4(RAB11B):c.304G>C (p.Val102Leu)	RAB11B (V102L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2748106	NM_004218.4(RAB11B):c.306G>T (p.Val102=)	RAB11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2781040	NM_004218.4(RAB11B):c.311G>A (p.Arg104His)	RAB11B (R104H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1359538	NM_004218.4(RAB11B):c.328C>T (p.Arg110Trp)	RAB11B (R110W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2787943	NM_004218.4(RAB11B):c.330G>A (p.Arg110=)	RAB11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1350174	NM_004218.4(RAB11B):c.332A>G (p.Asp111Gly)	RAB11B (D111G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1595584	NM_004218.4(RAB11B):c.336C>T (p.His112=)	RAB11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2164599	NM_004218.4(RAB11B):c.339A>G (p.Ala113=)	RAB11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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