ClinVar for MedGen (Select 226897) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3008390	NM_016277.5(RAB23):c.313_316del (p.Glu105fs)	RAB23 (E105fs)	Microsatellite (frameshift variant)	Carpenter syndrome	GPathogenic
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 2967234	NM_016277.5(RAB23):c.482-14T>G	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 2915867	NM_016277.5(RAB23):c.241+16T>G	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 2912344	NM_016277.5(RAB23):c.165T>C (p.Asp55=)	RAB23	Single nucleotide variant (synonymous variant)	Carpenter syndrome	GLikely benign
Select item 2911284	NM_016277.5(RAB23):c.242-20G>C	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 2910346	NM_016277.5(RAB23):c.399-15T>A	RAB23	Single nucleotide variant (intron variant)	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 2897334	NM_016277.5(RAB23):c.155+11G>A	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 2884266	NM_016277.5(RAB23):c.156-20_156-17del	RAB23	Microsatellite (intron variant)	Carpenter syndrome	GLikely benign
Select item 2881263	NM_016277.5(RAB23):c.155+17T>C	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 2855081	NM_016277.5(RAB23):c.482-10T>C	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 2843283	NM_016277.5(RAB23):c.474G>A (p.Val158=)	RAB23	Single nucleotide variant (synonymous variant)	Carpenter syndrome	GLikely benign
Select item 2841795	NM_016277.5(RAB23):c.12A>G (p.Glu4=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome	GLikely benign
Select item 2839241	NM_016277.5(RAB23):c.156-8T>G	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 2837068	NM_016277.5(RAB23):c.242-7C>T	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 2827988	NM_016277.5(RAB23):c.430_431del (p.Lys144fs)	RAB23 (K144fs)	Deletion (frameshift variant)	Carpenter syndrome	GPathogenic
Select item 2827064	NM_016277.5(RAB23):c.357G>A (p.Val119=)	RAB23	Single nucleotide variant (synonymous variant)	Carpenter syndrome	GLikely benign
Select item 2823095	NM_016277.5(RAB23):c.207G>A (p.Glu69=)	RAB23	Single nucleotide variant (synonymous variant)	Carpenter syndrome	GLikely benign
Select item 2813651	NM_016277.5(RAB23):c.174_241+587delinsTTATCATTAA	RAB23	Indel (splice donor variant)	Carpenter syndrome	GLikely pathogenic
Select item 2800203	NM_016277.5(RAB23):c.156-14A>G	RAB23	Single nucleotide variant (intron variant)	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 2780997	NM_016277.5(RAB23):c.481+19A>G	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 2778908	NM_016277.5(RAB23):c.155+11G>C	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 2772848	NM_016277.5(RAB23):c.27C>T (p.Ala9=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome	GLikely benign
Select item 2770426	NM_016277.5(RAB23):c.398+18G>A	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 2769470	NM_016277.5(RAB23):c.126T>C (p.Ile42=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome	GLikely benign
Select item 2766912	NM_016277.5(RAB23):c.481+16del	RAB23	Deletion (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 2760259	NM_016277.5(RAB23):c.48G>A (p.Gly16=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome	GLikely benign
Select item 2755781	NM_016277.5(RAB23):c.321A>C (p.Val107=)	RAB23	Single nucleotide variant (synonymous variant)	Carpenter syndrome	GLikely benign
Select item 2748089	NM_016277.5(RAB23):c.177A>G (p.Arg59=)	RAB23	Single nucleotide variant (synonymous variant)	Carpenter syndrome	GLikely benign
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 2745418	NM_016277.5(RAB23):c.312A>G (p.Arg104=)	RAB23	Single nucleotide variant (synonymous 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 2740005	NM_016277.5(RAB23):c.238C>T (p.Arg80Ter)	RAB23 (R80*)	Single nucleotide variant (nonsense)	Carpenter syndrome	GPathogenic
Select item 2739917	NM_016277.5(RAB23):c.242-17_242-16insATTC	RAB23	Insertion (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 2733373	NM_016277.5(RAB23):c.57A>C (p.Ala19=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome	GLikely benign
Select item 2704863	NM_016277.5(RAB23):c.48G>T (p.Gly16=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	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 2691650	NM_016277.5(RAB23):c.467del (p.Leu156fs)	RAB23 (L156fs)	Deletion (frameshift variant)	Carpenter syndrome	GPathogenic
Select item 2501123	NM_001271938.2(MEGF8):c.1741C>T (p.Gln581Ter)	MEGF8 (Q581*)	Single nucleotide variant (nonsense)	Carpenter syndrome	GLikely pathogenic
Select item 2501122	NC_000019.9:g.(42830583_42837756)_(42838366_42839186)del	MEGF8	Deletion	Carpenter syndrome	GLikely pathogenic
Select item 2416591	NM_016277.5(RAB23):c.574+7A>G	RAB23	Single nucleotide variant (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 2141084	NM_016277.5(RAB23):c.279T>C (p.Asp93=)	RAB23	Single nucleotide variant (synonymous 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 2132016	NM_016277.5(RAB23):c.376C>T (p.Leu126=)	RAB23	Single nucleotide variant (synonymous variant)	Carpenter syndrome	GLikely benign
Select item 2129610	NM_016277.5(RAB23):c.156-9_156-8del	RAB23	Deletion (intron variant)	Carpenter syndrome	GLikely benign
Select item 2120775	NM_016277.5(RAB23):c.481+1G>A	RAB23	Single nucleotide variant (splice donor variant)	Carpenter syndrome	GLikely pathogenic
Select item 2119781	NM_016277.5(RAB23):c.273C>T (p.Thr91=)	RAB23	Single nucleotide variant (synonymous variant)	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 2113604	NM_016277.5(RAB23):c.21A>G (p.Glu7=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome	GLikely benign
Select item 2103635	NM_016277.5(RAB23):c.399-15dup	RAB23	Duplication (intron variant)	Carpenter syndrome	GBenign
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 2069163	NM_016277.5(RAB23):c.90C>T (p.Cys30=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome	GLikely benign
Select item 2051630	NM_016277.5(RAB23):c.481+4A>C	RAB23	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2046886	NM_016277.5(RAB23):c.108A>G (p.Lys36=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome	GLikely benign
Select item 2029856	NM_016277.5(RAB23):c.139T>C (p.Leu47=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome	GLikely benign
Select item 2029053	NM_016277.5(RAB23):c.33G>A (p.Lys11=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	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 2017670	NM_016277.5(RAB23):c.426del (p.Arg142fs)	RAB23 (R142fs)	Deletion (frameshift variant)	Carpenter syndrome	GPathogenic
Select item 2011306	NM_016277.5(RAB23):c.575-5T>A	RAB23	Single nucleotide variant (intron 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 1937236	NM_016277.5(RAB23):c.14A>T (p.Asp5Val)	RAB23 (D5V)	Single nucleotide variant (missense variant +1 more)	Carpenter syndrome	GUncertain significance
Select item 1804730	NM_001271938.2(MEGF8):c.7024G>T (p.Glu2342Ter)	MEGF8 (E2275* +1 more)	Single nucleotide variant (nonsense)	Carpenter syndrome	GLikely pathogenic
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 1662883	NM_016277.5(RAB23):c.482-13C>G	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 1660698	NM_016277.5(RAB23):c.60T>G (p.Val20=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	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 1652254	NM_016277.5(RAB23):c.242-6T>C	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 1651789	NM_016277.5(RAB23):c.426G>A (p.Arg142=)	RAB23	Single nucleotide variant (synonymous variant)	Carpenter syndrome	GLikely benign
Select item 1641218	NM_016277.5(RAB23):c.429A>G (p.Leu143=)	RAB23	Single nucleotide variant (synonymous variant)	Carpenter syndrome	GLikely benign
Select item 1639429	NM_016277.5(RAB23):c.242-31ATTG[4]	RAB23	Microsatellite (intron 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 1625560	NM_016277.5(RAB23):c.482-7A>G	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 1606395	NM_016277.5(RAB23):c.547C>T (p.Leu183=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome	GLikely benign
Select item 1586254	NM_016277.5(RAB23):c.482-9T>G	RAB23	Single nucleotide variant (intron variant)	RAB23-related disorder +1 more	GLikely benign
Select item 1584169	NM_016277.5(RAB23):c.105A>G (p.Thr35=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome	GLikely benign
Select item 1578014	NM_016277.5(RAB23):c.155+6dup	RAB23	Duplication (intron variant)	Carpenter syndrome	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 1574200	NM_016277.5(RAB23):c.481+8A>C	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
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 1564334	NM_016277.5(RAB23):c.241+10A>G	RAB23	Single nucleotide variant (intron variant)	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 1550632	NM_016277.5(RAB23):c.582T>C (p.Phe194=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	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 1538809	NM_016277.5(RAB23):c.552G>C (p.Thr184=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	RAB23-related disorder +1 more	GLikely benign
Select item 1534982	NM_016277.5(RAB23):c.186A>G (p.Leu62=)	RAB23	Single nucleotide variant (synonymous variant)	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 1476916	NM_016277.5(RAB23):c.358_398+177delinsGGTGTACAGTTG	RAB23	Indel (splice donor variant)	Carpenter syndrome	GLikely pathogenic
Select item 1443368	NM_016277.5(RAB23):c.390T>C (p.Cys130=)	RAB23	Single nucleotide variant (synonymous variant)	Carpenter syndrome	GLikely benign
Select item 1366841	NM_016277.5(RAB23):c.526C>T (p.Gln176Ter)	RAB23 (Q176*)	Single nucleotide variant (nonsense +1 more)	Carpenter syndrome	GPathogenic

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