"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "RAB23"[ - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 357639	NM_016277.5(RAB23):c.714A>G (p.Ter238=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	RAB23-related 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 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)	Carpenter syndrome +1 more	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)	RAB23-related Carpenter syndrome +3 more	GBenign/Likely benign
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 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 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)	Carpenter syndrome	GLikely benign
Select item 701813	NM_016277.5(RAB23):c.552G>A (p.Thr184=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome	GLikely benign
Select item 1098967	NM_016277.5(RAB23):c.551C>T (p.Thr184Met)	RAB23 (T184M)	Single nucleotide variant (missense variant +1 more)	Carpenter syndrome +1 more	GLikely benign
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 357642	NM_016277.5(RAB23):c.536A>C (p.Glu179Ala)	RAB23 (E179A)	Single nucleotide variant (missense variant +1 more)	Carpenter syndrome +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 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
Select item 1625560	NM_016277.5(RAB23):c.482-7A>G	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 1077346	NM_016277.5(RAB23):c.482-8T>G	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 1586254	NM_016277.5(RAB23):c.482-9T>G	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 2855081	NM_016277.5(RAB23):c.482-10T>C	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 2912974	NM_016277.5(RAB23):c.482-12T>G	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 1662883	NM_016277.5(RAB23):c.482-13C>G	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 2967234	NM_016277.5(RAB23):c.482-14T>G	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 2990046	NM_016277.5(RAB23):c.482-20del	RAB23	Deletion (intron variant)	Carpenter syndrome	GLikely benign
Select item 2974798	NM_016277.5(RAB23):c.482-20G>A	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 2780997	NM_016277.5(RAB23):c.481+19A>G	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 2763639	NM_016277.5(RAB23):c.481+18del	RAB23	Deletion (intron variant)	Carpenter syndrome	GLikely benign
Select item 2190638	NM_016277.5(RAB23):c.481+17G>A	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GBenign
Select item 2766912	NM_016277.5(RAB23):c.481+16del	RAB23	Deletion (intron variant)	Carpenter syndrome	GLikely benign
Select item 989996	NM_016277.5(RAB23):c.481+10C>T	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 761083	NM_016277.5(RAB23):c.481+9C>T	RAB23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1574200	NM_016277.5(RAB23):c.481+8A>C	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 1615322	NM_016277.5(RAB23):c.481+7T>A	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 463375	NM_016277.5(RAB23):c.481+5A>G	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome +1 more	GLikely benign
Select item 2051630	NM_016277.5(RAB23):c.481+4A>C	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome +1 more	GUncertain significance
Select item 2120775	NM_016277.5(RAB23):c.481+1G>A	RAB23	Single nucleotide variant (splice donor variant)	Carpenter syndrome	GLikely pathogenic
Select item 2843283	NM_016277.5(RAB23):c.474G>A (p.Val158=)	RAB23	Single nucleotide variant (synonymous variant)	Carpenter syndrome	GLikely benign
Select item 2023344	NM_016277.5(RAB23):c.453A>C (p.Ser151=)	RAB23	Single nucleotide variant (synonymous variant)	Carpenter syndrome	GLikely benign
Select item 1632391	NM_016277.5(RAB23):c.435A>G (p.Leu145=)	RAB23	Single nucleotide variant (synonymous variant)	Carpenter syndrome	GLikely benign
Select item 4591	NM_016277.5(RAB23):c.434T>A (p.Leu145Ter)	RAB23 (L145*)	Single nucleotide variant (nonsense)	RAB23-related Carpenter syndrome +3 more	GPathogenic
Select item 2827988	NM_016277.5(RAB23):c.430_431del (p.Lys144fs)	RAB23 (K144fs)	Deletion (frameshift variant)	Carpenter syndrome	GPathogenic
Select item 1641218	NM_016277.5(RAB23):c.429A>G (p.Leu143=)	RAB23	Single nucleotide variant (synonymous variant)	Carpenter syndrome	GLikely benign
Select item 2017670	NM_016277.5(RAB23):c.426del (p.Arg142fs)	RAB23 (R142fs)	Deletion (frameshift variant)	Carpenter syndrome	GPathogenic
Select item 1651789	NM_016277.5(RAB23):c.426G>A (p.Arg142=)	RAB23	Single nucleotide variant (synonymous variant)	Carpenter syndrome	GLikely benign
Select item 1071136	NM_016277.5(RAB23):c.421A>T (p.Lys141Ter)	RAB23 (K141*)	Single nucleotide variant (nonsense)	Carpenter syndrome	GPathogenic
Select item 1086175	NM_016277.5(RAB23):c.399-6G>A	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 2140925	NM_016277.5(RAB23):c.399-7T>C	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 1659576	NM_016277.5(RAB23):c.399-9G>T	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 2103635	NM_016277.5(RAB23):c.399-15dup	RAB23	Duplication (intron variant)	Carpenter syndrome	GBenign
Select item 2910346	NM_016277.5(RAB23):c.399-15T>A	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 1476916	NM_016277.5(RAB23):c.358_398+177delinsGGTGTACAGTTG	RAB23	Indel (splice donor variant)	Carpenter syndrome	GLikely pathogenic
Select item 2770426	NM_016277.5(RAB23):c.398+18G>A	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 1142656	NM_016277.5(RAB23):c.398+10C>T	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 1539753	NM_016277.5(RAB23):c.398+9G>T	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 357643	NM_016277.5(RAB23):c.398+9G>A	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1443368	NM_016277.5(RAB23):c.390T>C (p.Cys130=)	RAB23	Single nucleotide variant (synonymous variant)	Carpenter syndrome	GLikely benign
Select item 766617	NM_016277.5(RAB23):c.387T>C (p.Ser129=)	RAB23	Single nucleotide variant (synonymous variant)	Carpenter syndrome	GLikely benign
Select item 2132016	NM_016277.5(RAB23):c.376C>T (p.Leu126=)	RAB23	Single nucleotide variant (synonymous variant)	Carpenter syndrome	GLikely benign
Select item 2827064	NM_016277.5(RAB23):c.357G>A (p.Val119=)	RAB23	Single nucleotide variant (synonymous variant)	Carpenter syndrome	GLikely benign
Select item 1079941	NM_016277.5(RAB23):c.351A>G (p.Val117=)	RAB23	Single nucleotide variant (synonymous variant)	Carpenter syndrome	GLikely benign
Select item 1050024	NM_016277.5(RAB23):c.346A>G (p.Thr116Ala)	RAB23 (T116A)	Single nucleotide variant (missense variant)	RAB23-related Carpenter syndrome +2 more	GUncertain significance
Select item 566458	NM_016277.5(RAB23):c.337G>A (p.Asp113Asn)	RAB23 (D113N)	Single nucleotide variant (missense variant)	Carpenter syndrome	GUncertain significance
Select item 1111625	NM_016277.5(RAB23):c.333G>A (p.Val111=)	RAB23	Single nucleotide variant (synonymous variant)	Carpenter syndrome	GLikely benign
Select item 1146082	NM_016277.5(RAB23):c.327C>T (p.Ala109=)	RAB23	Single nucleotide variant (synonymous variant)	Carpenter syndrome	GLikely benign
Select item 1970234	NM_016277.5(RAB23):c.317_322del (p.Lys106_Val108delinsIle)	RAB23	Deletion (inframe_indel)	Carpenter syndrome	GUncertain significance
Select item 2755781	NM_016277.5(RAB23):c.321A>C (p.Val107=)	RAB23	Single nucleotide variant (synonymous variant)	Carpenter syndrome	GLikely benign
Select item 3008390	NM_016277.5(RAB23):c.313_316del (p.Glu105fs)	RAB23 (E105fs)	Microsatellite (frameshift variant)	Carpenter syndrome	GPathogenic
Select item 2745418	NM_016277.5(RAB23):c.312A>G (p.Arg104=)	RAB23	Single nucleotide variant (synonymous variant)	Carpenter syndrome	GLikely benign
Select item 357644	NM_016277.5(RAB23):c.301T>G (p.Ser101Ala)	RAB23 (S101A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1103122	NM_016277.5(RAB23):c.285A>G (p.Glu95=)	RAB23	Single nucleotide variant (synonymous variant)	Carpenter syndrome	GLikely benign
Select item 2141084	NM_016277.5(RAB23):c.279T>C (p.Asp93=)	RAB23	Single nucleotide variant (synonymous variant)	Carpenter syndrome	GLikely benign
Select item 2698131	NM_016277.5(RAB23):c.273C>G (p.Thr91=)	RAB23	Single nucleotide variant (synonymous variant)	Carpenter syndrome	GLikely benign
Select item 2119781	NM_016277.5(RAB23):c.273C>T (p.Thr91=)	RAB23	Single nucleotide variant (synonymous variant)	Carpenter syndrome	GLikely benign
Select item 1113552	NM_016277.5(RAB23):c.261C>G (p.Leu87=)	RAB23	Single nucleotide variant (synonymous variant)	Carpenter syndrome	GLikely benign
Select item 1093535	NM_016277.5(RAB23):c.261C>T (p.Leu87=)	RAB23	Single nucleotide variant (synonymous variant)	Carpenter syndrome	GLikely benign

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