RAB23[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145584	GRCh38/hg38 6p12.3-11.2(chr6:50971182-57432788)x1	BAG2, BEND6 +171 more	Copy number loss	See cases	GPathogenic
Select item 1809510	GRCh38/hg38 6p12.1-11.2(chr6:55755662-55874865)x2	LINC01564, LINC03001 +88 more	Copy number loss	Orofacial cleft	GUncertain significance
Select item 148002	GRCh38/hg38 6p12.1-q12(chr6:53931543-68149750)x3	BAG2, BEND6 +147 more	Copy number gain	See cases	GPathogenic
Select item 144369	GRCh38/hg38 6p12.1-11.2(chr6:56312924-57306212)x1	BAG2, BEND6 +28 more	Copy number loss	See cases	GUncertain significance
Select item 146506	GRCh38/hg38 6p12.1-11.2(chr6:56639682-57432788)x3	BAG2, BEND6 +27 more	Copy number gain	See cases	GUncertain significance
Select item 908519	NM_004282.4(BAG2):c.*2941T>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GBenign
Select item 908520	NM_004282.4(BAG2):c.*2973T>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 908521	NM_004282.4(BAG2):c.*3082A>G	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GLikely benign
Select item 908522	NM_004282.4(BAG2):c.*3142C>G	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 909365	NM_004282.4(BAG2):c.*3238G>A	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 909366	NM_004282.4(BAG2):c.*3395A>G	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 909367	NM_004282.4(BAG2):c.*3502G>T	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 909368	NM_004282.4(BAG2):c.*3518C>T	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 909369	NM_004282.4(BAG2):c.*3590C>T	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 909370	NM_004282.4(BAG2):c.*3685C>T	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 909371	NM_004282.4(BAG2):c.*3786T>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GBenign
Select item 909372	NM_004282.4(BAG2):c.*3846C>T	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GBenign
Select item 910330	NM_004282.4(BAG2):c.*3930G>T	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 910331	NM_004282.4(BAG2):c.*3952A>G	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 910332	NM_004282.4(BAG2):c.*3998A>G	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GBenign
Select item 910333	NM_004282.4(BAG2):c.*4026A>G	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 910334	NM_004282.4(BAG2):c.*4204T>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 910335	NM_004282.4(BAG2):c.*4263C>T	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 910336	NM_004282.4(BAG2):c.*4454T>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 910337	NM_004282.4(BAG2):c.*4531G>A	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GBenign
Select item 911545	NM_004282.4(BAG2):c.*4565A>G	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GLikely benign
Select item 357625	NM_004282.4(BAG2):c.4604_4606dup	BAG2, RAB23	Duplication (3 prime UTR variant +1 more)	Carpenter syndrome	GUncertain significance
Select item 911546	NM_004282.4(BAG2):c.*4735A>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 911547	NM_004282.4(BAG2):c.*4737A>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 911548	NM_004282.4(BAG2):c.*4777T>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 357626	NM_004282.4(BAG2):c.*4959T>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	Carpenter syndrome	GLikely benign
Select item 357627	NM_004282.4(BAG2):c.*5020C>T	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	Carpenter syndrome	GUncertain significance
Select item 357628	NM_004282.4(BAG2):c.*5084TGAT[3]	BAG2, RAB23	Microsatellite (3 prime UTR variant +1 more)	Carpenter syndrome	GUncertain significance
Select item 908590	NM_004282.4(BAG2):c.*5140G>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 908591	NM_004282.4(BAG2):c.*5219A>G	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 357629	NM_004282.4(BAG2):c.*5287C>T	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GLikely benign
Select item 357630	NM_004282.4(BAG2):c.*5351G>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	Carpenter syndrome	GUncertain significance
Select item 908592	NM_004282.4(BAG2):c.*5421T>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 357631	NM_004282.4(BAG2):c.*5460C>T	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GBenign
Select item 909447	NM_004282.4(BAG2):c.*5476C>T	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 357632	NM_004282.4(BAG2):c.*5536A>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 357633	NM_004282.4(BAG2):c.*5549A>G	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 909448	NM_004282.4(BAG2):c.*5594A>G	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GLikely benign
Select item 357634	NM_016277.5(RAB23):c.*618A>G	RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 357635	NM_016277.5(RAB23):c.*600AATT[1]	RAB23	Microsatellite (3 prime UTR variant +1 more)	Carpenter syndrome	GUncertain significance
Select item 357636	NM_016277.5(RAB23):c.*544G>A	RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 357637	NM_016277.5(RAB23):c.*416G>C	RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	Carpenter syndrome	GLikely benign
Select item 357638	NM_016277.5(RAB23):c.*145T>C	RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 910395	NM_016277.5(RAB23):c.*117A>G	RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 910396	NM_016277.5(RAB23):c.*81G>T	RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 357639	NM_016277.5(RAB23):c.714A>G (p.Ter238=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1055018	NM_016277.5(RAB23):c.712T>G (p.Ter238Glu)	RAB23	Single nucleotide variant (stop lost +1 more)	Carpenter syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2228109	NM_016277.5(RAB23):c.705C>A (p.Ser235Arg)	RAB23 (S235R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1158044	NM_016277.5(RAB23):c.699C>T (p.Ser233=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome	GLikely benign
Select item 1552107	NM_016277.5(RAB23):c.693T>C (p.Phe231=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome	GLikely benign
Select item 1109844	NM_016277.5(RAB23):c.675G>A (p.Lys225=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome	GLikely benign
Select item 910397	NM_016277.5(RAB23):c.670A>T (p.Thr224Ser)	RAB23 (T224S)	Single nucleotide variant (missense variant +1 more)	RAB23-related condition +2 more	GUncertain significance
Select item 910398	NM_016277.5(RAB23):c.664C>G (p.Gln222Glu)	RAB23 (Q222E)	Single nucleotide variant (missense variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 1155444	NM_016277.5(RAB23):c.642C>T (p.Val214=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome	GLikely benign
Select item 1091505	NM_016277.5(RAB23):c.627C>T (p.Leu209=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome	GLikely benign
Select item 357640	NM_016277.5(RAB23):c.619G>A (p.Gly207Ser)	RAB23 (G207S)	Single nucleotide variant (missense variant +1 more)	Carpenter syndrome +3 more	GBenign/Likely benign
Select item 357641	NM_016277.5(RAB23):c.616T>A (p.Ser206Thr)	RAB23 (S206T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2205539	NM_016277.5(RAB23):c.611A>G (p.Gln204Arg)	RAB23 (Q204R)	Single nucleotide variant (missense variant +1 more)	RAB23-related condition +1 more	GUncertain significance
Select item 2086020	NM_016277.5(RAB23):c.607G>A (p.Gly203Ser)	RAB23 (G203S)	Single nucleotide variant (missense variant +1 more)	Carpenter syndrome	GUncertain significance
Select item 1158043	NM_016277.5(RAB23):c.606C>T (p.Ser202=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome	GLikely benign
Select item 1117408	NM_016277.5(RAB23):c.603C>T (p.His201=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome	GLikely benign
Select item 1099069	NM_016277.5(RAB23):c.594T>G (p.Gly198=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome	GLikely benign
Select item 1354497	NM_016277.5(RAB23):c.590C>T (p.Ser197Phe)	RAB23 (S197F)	Single nucleotide variant (missense variant +1 more)	Carpenter syndrome	GUncertain significance
Select item 1550632	NM_016277.5(RAB23):c.582T>C (p.Phe194=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome	GLikely benign
Select item 1670665	NM_016277.5(RAB23):c.576T>G (p.Gly192=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome	GLikely benign
Select item 754505	NM_016277.5(RAB23):c.575-8_575-5dup	RAB23	Duplication (intron variant)	Carpenter syndrome	GLikely benign
Select item 2011306	NM_016277.5(RAB23):c.575-5T>A	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 1119730	NM_016277.5(RAB23):c.575-7T>A	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 2738233	NM_016277.5(RAB23):c.575-12C>A	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 2741492	NM_016277.5(RAB23):c.575-15C>T	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 1683803	NM_016277.5(RAB23):c.575-170C>G	RAB23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201159	NM_016277.5(RAB23):c.574+28G>A	RAB23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2861572	NM_016277.5(RAB23):c.574+20T>G	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 1091057	NM_016277.5(RAB23):c.574+10T>C	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 1124303	NM_016277.5(RAB23):c.574+8C>T	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 2416591	NM_016277.5(RAB23):c.574+7A>G	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 1210462	NM_016277.5(RAB23):c.559del (p.Ser187fs)	RAB23 (S187fs)	Deletion (frameshift variant +1 more)	RAB23-related Carpenter syndrome	GLikely pathogenic
Select item 1109558	NM_016277.5(RAB23):c.555T>C (p.His185=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome	GLikely benign
Select item 2796744	NM_016277.5(RAB23):c.552G>T (p.Thr184=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome	GLikely benign
Select item 1538809	NM_016277.5(RAB23):c.552G>C (p.Thr184=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	RAB23-related condition +1 more	GLikely benign
Select item 701813	NM_016277.5(RAB23):c.552G>A (p.Thr184=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome +1 more	GLikely benign
Select item 1098967	NM_016277.5(RAB23):c.551C>T (p.Thr184Met)	RAB23 (T184M)	Single nucleotide variant (missense variant +1 more)	RAB23-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1576015	NM_016277.5(RAB23):c.549A>G (p.Leu183=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome	GLikely benign
Select item 1606395	NM_016277.5(RAB23):c.547C>T (p.Leu183=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome	GLikely benign
Select item 2634036	NM_016277.5(RAB23):c.546A>C (p.Glu182Asp)	RAB23 (E182D)	Single nucleotide variant (missense variant +1 more)	RAB23-related condition	GUncertain significance
Select item 357642	NM_016277.5(RAB23):c.536A>C (p.Glu179Ala)	RAB23 (E179A)	Single nucleotide variant (missense variant +1 more)	RAB23-related condition +2 more	GConflicting classifications of pathogenicity
Select item 738344	NM_016277.5(RAB23):c.534T>C (p.Ala178=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome	GBenign
Select item 436457	NM_016277.5(RAB23):c.529A>C (p.Ile177Leu)	RAB23 (I177L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1366841	NM_016277.5(RAB23):c.526C>T (p.Gln176Ter)	RAB23 (Q176*)	Single nucleotide variant (nonsense +1 more)	Carpenter syndrome	GPathogenic
Select item 2746474	NM_016277.5(RAB23):c.525A>G (p.Gln175=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome	GLikely benign
Select item 2114151	NM_016277.5(RAB23):c.522dup (p.Gln175fs)	RAB23 (Q175fs)	Duplication (frameshift variant +1 more)	Carpenter syndrome	GUncertain significance
Select item 1566789	NM_016277.5(RAB23):c.510T>C (p.Leu170=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome	GLikely benign
Select item 797341	NM_016277.5(RAB23):c.507C>T (p.Tyr169=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome	GLikely benign
Select item 2909119	NM_016277.5(RAB23):c.495G>A (p.Leu165=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome	GLikely benign
Select item 1498654	NM_016277.5(RAB23):c.482-1_486del	RAB23	Deletion (splice acceptor variant)	Carpenter syndrome	GLikely pathogenic

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