LOC126862987[gene] - ClinVar

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Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC111365169, LOC111365189 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	MIR6869, MIR6870 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	LOC130065416, LOC130065417 +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	LOC126862999, LOC126863005 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	ADAM33, ADISSP +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
Select item 146116	GRCh38/hg38 20p12.1-11.22(chr20:17772771-21426789)x1	LOC130065467, LOC130065468 +117 more	Copy number loss	See cases	GPathogenic
Select item 59976	GRCh38/hg38 20p11.23(chr20:18430311-18542627)x1	DZANK1, LOC126862987 +7 more	Copy number loss	See cases	GUncertain significance
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 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 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 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 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 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 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 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 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 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 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 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 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
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 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 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 1323571	NM_006363.6(SEC23B):c.443_444del (p.Lys148fs)	LOC126862987, SEC23B (K130fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
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 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 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 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 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 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 95388	NM_006363.6(SEC23B):c.490G>T (p.Val164Leu)	LOC126862987, SEC23B (V164L +1 more)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type II +3 more	GBenign/Likely 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 287056	NM_006363.6(SEC23B):c.519G>A (p.Val173=)	LOC126862987, SEC23B	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type II +3 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 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 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 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 197785	NM_006363.6(SEC23B):c.569G>A (p.Arg190Gln)	LOC126862987, SEC23B (R190Q +1 more)	Single nucleotide variant (missense variant)	Cowden syndrome 7 +2 more	GUncertain significance
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 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 463383	NM_006363.6(SEC23B):c.576_583delinsA (p.Thr192_Lys193insTer)	LOC126862987, SEC23B	Indel (frameshift variant)	Cowden syndrome 7 +1 more	GPathogenic
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 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 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 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 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 1236694	NM_006363.6(SEC23B):c.603+90G>C	LOC126862987, SEC23B	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 1599948	NM_006363.6(SEC23B):c.604-4dup	LOC126862987, SEC23B	Duplication (intron variant)	Congenital dyserythropoietic anemia, type II +1 more	GBenign
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 2950125	NM_006363.6(SEC23B):c.604-6_604-4del	LOC126862987, SEC23B	Deletion (intron variant)	Cowden syndrome 7 +1 more	GBenign
Select item 2934632	NM_006363.6(SEC23B):c.604-4del	SEC23B, LOC126862987	Deletion (intron variant)	Cowden syndrome 7 +1 more	GBenign
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 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 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 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 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 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 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 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 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 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 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 1227	NM_006363.6(SEC23B):c.649C>T (p.Arg217Ter)	LOC126862987, SEC23B (R217* +1 more)	Single nucleotide variant (nonsense)	Cowden syndrome 7 +2 more	GPathogenic/Likely pathogenic
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 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 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 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 3067441	NM_006363.6(SEC23B):c.678T>C (p.Phe226=)	LOC126862987, SEC23B	Single nucleotide variant (synonymous variant)	not provided	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 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 95389	NM_006363.6(SEC23B):c.689+1G>A	LOC126862987, SEC23B	Single nucleotide variant (splice donor variant)	Congenital dyserythropoietic anemia, type II +2 more	GPathogenic
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 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 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 707129	NM_006363.6(SEC23B):c.689+10C>T	LOC126862987, SEC23B	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely 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 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 1269205	NM_006363.6(SEC23B):c.689+233T>C	LOC126862987, SEC23B	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 89