Related gene-specific medical variations for Gene (Select 10483) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067441	NM_006363.6(SEC23B):c.678T>C (p.Phe226=)	LOC126862987, SEC23B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3064761	NM_006363.6(SEC23B):c.902G>A (p.Gly301Asp)	SEC23B (G283D +1 more)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type II	GUncertain significance
Select item 2954155	NM_006363.6(SEC23B):c.666G>A (p.Gln222=)	LOC126862987, SEC23B	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2953423	NM_006363.6(SEC23B):c.584dup (p.Leu195fs)	LOC126862987, SEC23B (L177fs +1 more)	Duplication (frameshift variant)	Congenital dyserythropoietic anemia, type II +1 more	GPathogenic
Select item 2952714	NM_006363.6(SEC23B):c.489G>T (p.Leu163=)	LOC126862987, SEC23B	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2951476	NM_006363.6(SEC23B):c.573G>A (p.Gly191=)	LOC126862987, SEC23B	Single nucleotide variant (synonymous variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2950949	NM_006363.6(SEC23B):c.603+10T>C	LOC126862987, SEC23B	Single nucleotide variant (intron variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2950690	NM_006363.6(SEC23B):c.645A>G (p.Gln215=)	LOC126862987, SEC23B	Single nucleotide variant (synonymous variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2950656	NM_006363.6(SEC23B):c.369A>T (p.Arg123=)	LOC126862987, SEC23B	Single nucleotide variant (synonymous variant +1 more)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2950125	NM_006363.6(SEC23B):c.604-6_604-4del	LOC126862987, SEC23B	Deletion (intron variant)	Cowden syndrome 7 +1 more	GBenign
Select item 2949471	NM_006363.6(SEC23B):c.606T>C (p.Asp202=)	LOC126862987, SEC23B	Single nucleotide variant (synonymous variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2948113	NM_006363.6(SEC23B):c.604-11_604-10insC	LOC126862987, SEC23B	Insertion (intron variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2947817	NM_006363.6(SEC23B):c.408C>T (p.Asp136=)	SEC23B, LOC126862987	Single nucleotide variant (synonymous variant +1 more)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2947557	NM_006363.6(SEC23B):c.689+7G>T	LOC126862987, SEC23B	Single nucleotide variant (intron variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2947264	NM_006363.6(SEC23B):c.528T>C (p.His176=)	SEC23B, LOC126862987	Single nucleotide variant (synonymous variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2946424	NM_006363.6(SEC23B):c.367-1G>T	LOC126862987, SEC23B	Single nucleotide variant (splice acceptor variant +1 more)	Cowden syndrome 7 +1 more	GLikely pathogenic
Select item 2945996	NM_006363.6(SEC23B):c.450C>T (p.Ser150=)	SEC23B, LOC126862987	Single nucleotide variant (synonymous variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2945906	NM_006363.6(SEC23B):c.689+14A>T	SEC23B, LOC126862987	Single nucleotide variant (intron variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2945849	NM_006363.6(SEC23B):c.564C>A (p.Val188=)	LOC126862987, SEC23B	Single nucleotide variant (synonymous variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2944871	NM_006363.6(SEC23B):c.604-19T>G	LOC126862987, SEC23B	Single nucleotide variant (intron variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2944168	NM_006363.6(SEC23B):c.592A>T (p.Lys198Ter)	LOC126862987, SEC23B (K198* +1 more)	Single nucleotide variant (nonsense)	Cowden syndrome 7 +1 more	GPathogenic
Select item 2943473	NM_006363.6(SEC23B):c.545del (p.Gly182fs)	SEC23B, LOC126862987 (G164fs +1 more)	Deletion (frameshift variant)	Cowden syndrome 7 +1 more	GPathogenic
Select item 2942981	NM_006363.6(SEC23B):c.689+8C>T	LOC126862987, SEC23B	Single nucleotide variant (intron variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2941823	NM_006363.6(SEC23B):c.669G>A (p.Glu223=)	LOC126862987, SEC23B	Single nucleotide variant (synonymous variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2941005	NM_006363.6(SEC23B):c.414C>T (p.Cys138=)	LOC126862987, SEC23B	Single nucleotide variant (synonymous variant +1 more)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2940485	NM_006363.6(SEC23B):c.604-20T>C	LOC126862987, SEC23B	Single nucleotide variant (intron variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2939603	NM_006363.6(SEC23B):c.689+1G>T	LOC126862987, SEC23B	Single nucleotide variant (splice donor variant)	Cowden syndrome 7 +1 more	GPathogenic
Select item 2939464	NM_006363.6(SEC23B):c.534A>G (p.Leu178=)	LOC126862987, SEC23B	Single nucleotide variant (synonymous variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2938934	NM_006363.6(SEC23B):c.375T>C (p.Ala125=)	LOC126862987, SEC23B	Single nucleotide variant (synonymous variant +1 more)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2938324	NM_006363.6(SEC23B):c.689+9C>A	LOC126862987, SEC23B	Single nucleotide variant (intron variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2936621	NM_006363.6(SEC23B):c.604-10T>G	LOC126862987, SEC23B	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2936459	NM_006363.6(SEC23B):c.624G>A (p.Lys208=)	LOC126862987, SEC23B	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2936272	NM_006363.6(SEC23B):c.367-8G>C	LOC126862987, SEC23B	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2935866	NM_006363.6(SEC23B):c.480A>T (p.Pro160=)	LOC126862987, SEC23B	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2935033	NM_006363.6(SEC23B):c.489G>C (p.Leu163=)	LOC126862987, SEC23B	Single nucleotide variant (synonymous variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2934632	NM_006363.6(SEC23B):c.604-4del	SEC23B, LOC126862987	Deletion (intron variant)	Cowden syndrome 7 +1 more	GBenign
Select item 2933844	NM_006363.6(SEC23B):c.582T>C (p.Asp194=)	LOC126862987, SEC23B	Single nucleotide variant (synonymous variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2933617	NM_006363.6(SEC23B):c.489G>A (p.Leu163=)	SEC23B, LOC126862987	Single nucleotide variant (synonymous variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2931353	NM_006363.6(SEC23B):c.438A>G (p.Ala146=)	SEC23B, LOC126862987	Single nucleotide variant (synonymous variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2931106	NM_006363.6(SEC23B):c.561T>C (p.Tyr187=)	LOC126862987, SEC23B	Single nucleotide variant (synonymous variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2930919	NM_006363.6(SEC23B):c.689+19G>T	LOC126862987, SEC23B	Single nucleotide variant (intron variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2930895	NM_006363.6(SEC23B):c.603+12A>G	LOC126862987, SEC23B	Single nucleotide variant (intron variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2928268	NM_006363.6(SEC23B):c.568C>A (p.Arg190=)	LOC126862987, SEC23B	Single nucleotide variant (synonymous variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2925849	NM_006363.6(SEC23B):c.636C>T (p.Pro212=)	LOC126862987, SEC23B	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2925646	NM_006363.6(SEC23B):c.568C>T (p.Arg190Ter)	LOC126862987, SEC23B (R190* +1 more)	Single nucleotide variant (nonsense)	Congenital dyserythropoietic anemia, type II +1 more	GPathogenic
Select item 2924792	NM_006363.6(SEC23B):c.618G>T (p.Leu206=)	LOC126862987, SEC23B	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2922899	NM_006363.6(SEC23B):c.689+1G>C	LOC126862987, SEC23B	Single nucleotide variant (splice donor variant)	Congenital dyserythropoietic anemia, type II +1 more	GPathogenic
Select item 2690695	NM_006363.6(SEC23B):c.1182del (p.Asp395fs)	SEC23B (D377fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2690492	NM_006363.6(SEC23B):c.1753del (p.His585fs)	SEC23B (H567fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2689938	NM_006363.6(SEC23B):c.1726T>G (p.Phe576Val)	SEC23B (F558V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689937	NM_006363.6(SEC23B):c.1790A>G (p.Asn597Ser)	SEC23B (N579S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689936	NM_006363.6(SEC23B):c.998A>G (p.Tyr333Cys)	SEC23B (Y315C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689935	NM_006363.6(SEC23B):c.1198T>G (p.Phe400Val)	SEC23B (F382V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689934	NM_006363.6(SEC23B):c.539G>A (p.Cys180Tyr)	LOC126862987, SEC23B (C162Y +1 more)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type II +2 more	GConflicting classifications of pathogenicity
Select item 2689933	NM_006363.6(SEC23B):c.800G>T (p.Gly267Val)	SEC23B (G249V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2556415	NM_006363.6(SEC23B):c.429C>G (p.Asp143Glu)	LOC126862987, SEC23B (D143E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492330	NM_006363.6(SEC23B):c.389T>A (p.Ile130Asn)	LOC126862987, SEC23B (I130N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2435796	NM_006363.6(SEC23B):c.1340A>G (p.Gln447Arg)	SEC23B (Q429R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435795	NM_006363.6(SEC23B):c.875C>T (p.Thr292Ile)	SEC23B (T274I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435794	NM_006363.6(SEC23B):c.1791C>G (p.Asn597Lys)	SEC23B (N579K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435793	NM_006363.6(SEC23B):c.1810T>C (p.Tyr604His)	SEC23B (Y586H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435792	NM_006363.6(SEC23B):c.1240C>T (p.Arg414Trp)	SEC23B (R396W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435791	NM_006363.6(SEC23B):c.1202G>A (p.Arg401Gln)	SEC23B (R383Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435790	NM_006363.6(SEC23B):c.1901C>T (p.Pro634Leu)	SEC23B (P616L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435789	NM_006363.6(SEC23B):c.1831C>T (p.Arg611Trp)	SEC23B (R593W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435788	NM_006363.6(SEC23B):c.652C>A (p.Pro218Thr)	LOC126862987, SEC23B (P200T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435787	NM_006363.6(SEC23B):c.2074G>A (p.Asp692Asn)	SEC23B (D674N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433287	NM_006363.6(SEC23B):c.126del (p.Thr43fs)	SEC23B (T43fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2428716	NM_006363.6(SEC23B):c.733CTT[1] (p.Leu246del)	SEC23B (L228del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2428710	NM_006363.6(SEC23B):c.2229C>T (p.Pro743=)	SEC23B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2397753	NM_006363.6(SEC23B):c.501C>G (p.Ile167Met)	LOC126862987, SEC23B (I149M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2397659	NM_006363.6(SEC23B):c.660A>C (p.Gln220His)	LOC126862987, SEC23B (Q202H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237020	NM_006363.6(SEC23B):c.371G>A (p.Gly124Asp)	LOC126862987, SEC23B (G124D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2173624	NM_006363.6(SEC23B):c.631A>G (p.Met211Val)	LOC126862987, SEC23B (M211V +1 more)	Single nucleotide variant (missense variant)	Cowden syndrome 7 +1 more	GUncertain significance
Select item 2172919	NM_006363.6(SEC23B):c.438A>C (p.Ala146=)	LOC126862987, SEC23B	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2171158	NM_006363.6(SEC23B):c.614G>C (p.Gly205Ala)	LOC126862987, SEC23B (G187A +1 more)	Single nucleotide variant (missense variant)	Cowden syndrome 7 +2 more	GUncertain significance
Select item 2152326	NM_006363.6(SEC23B):c.490del (p.Val164fs)	LOC126862987, SEC23B (V146fs +1 more)	Deletion (frameshift variant)	Congenital dyserythropoietic anemia, type II +1 more	GPathogenic
Select item 2079741	NM_006363.6(SEC23B):c.604-6T>C	LOC126862987, SEC23B	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 1806373	NM_006363.6(SEC23B):c.640C>T (p.Gln214Ter)	LOC126862987, SEC23B (Q196* +1 more)	Single nucleotide variant (nonsense)	Congenital dyserythropoietic anemia, type II +2 more	GPathogenic
Select item 1686174	NM_006363.6(SEC23B):c.367C>T (p.Arg123Ter)	SEC23B, LOC126862987 (R123*)	Single nucleotide variant (nonsense +1 more)	Congenital dyserythropoietic anemia, type II +1 more	GPathogenic
Select item 1679461	NM_006363.6(SEC23B):c.221+159G>A	SEC23B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1600267	NM_006363.6(SEC23B):c.367-17T>C	LOC126862987, SEC23B	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type II +1 more	GBenign
Select item 1599948	NM_006363.6(SEC23B):c.604-4dup	LOC126862987, SEC23B	Duplication (intron variant)	Congenital dyserythropoietic anemia, type II +1 more	GBenign
Select item 1421714	NM_006363.6(SEC23B):c.546A>T (p.Gly182=)	LOC126862987, SEC23B	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type II +1 more	GUncertain significance
Select item 1331086	NM_006363.6(SEC23B):c.800G>A (p.Gly267Asp)	SEC23B (G249D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1330952	NM_006363.6(SEC23B):c.2028C>A (p.Asp676Glu)	SEC23B (D658E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1325045	NM_006363.6(SEC23B):c.222_225del (p.Cys74fs)	SEC23B (C74fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1323571	NM_006363.6(SEC23B):c.443_444del (p.Lys148fs)	LOC126862987, SEC23B (K130fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1269205	NM_006363.6(SEC23B):c.689+233T>C	LOC126862987, SEC23B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236694	NM_006363.6(SEC23B):c.603+90G>C	LOC126862987, SEC23B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192948	NM_006363.6(SEC23B):c.-15+221G>C	LOC130065473, SEC23B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1167283	NM_006363.6(SEC23B):c.604-5_604-4dup	LOC126862987, SEC23B	Duplication (intron variant)	Congenital dyserythropoietic anemia, type II +1 more	GBenign
Select item 1030102	NM_006363.6(SEC23B):c.574A>C (p.Thr192Pro)	LOC126862987, SEC23B (T174P +1 more)	Single nucleotide variant (missense variant)	Cowden syndrome 7	GUncertain significance
Select item 994247	NM_006363.6(SEC23B):c.1561C>T (p.Gln521Ter)	SEC23B (Q503* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 994166	NM_006363.6(SEC23B):c.2214+72A>G	SEC23B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 993582	NM_006363.6(SEC23B):c.103G>A (p.Val35Ile)	SEC23B (V35I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 930843	NM_006363.6(SEC23B):c.436G>A (p.Ala146Thr)	LOC126862987, SEC23B (A128T +1 more)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type II	GUncertain significance
Select item 897911	NM_006363.6(SEC23B):c.389T>C (p.Ile130Thr)	LOC126862987, SEC23B (I130T)	Single nucleotide variant (missense variant +1 more)	Congenital dyserythropoietic anemia, type II +1 more	GUncertain significance
Select item 872798	GRCh37/hg19 20p11.23(chr20:18492869-18496380)x3	SEC23B	Copy number gain	not provided	GPathogenic
Select item 843025	NM_006363.6(SEC23B):c.434A>G (p.Gln145Arg)	LOC126862987, SEC23B (Q127R +1 more)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type II +3 more	GConflicting classifications of pathogenicity

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