10483[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +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	ADAM33, ADISSP +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 146116	GRCh38/hg38 20p12.1-11.22(chr20:17772771-21426789)x1	CFAP61, CFAP61-AS1 +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 1282987	NC_000020.11:g.18507148A>G	SEC23B	Single nucleotide variant	not provided	GBenign
Select item 1971626	NC_000020.11:g.18507416A>G	SEC23B	Single nucleotide variant	not provided +2 more	GBenign/Likely benign
Select item 683760	NC_000020.11:g.18507421G>C	SEC23B	Single nucleotide variant	not provided	GBenign
Select item 337778	NM_006363.5(SEC23B):c.-394A>C	LOC130065472, SEC23B	Single nucleotide variant (5 prime UTR variant)	Congenital dyserythropoietic anemia	GUncertain significance
Select item 337779	NM_006363.5(SEC23B):c.-301G>A	LOC130065472, SEC23B	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia	GUncertain significance
Select item 337780	NM_006363.5(SEC23B):c.-283C>T	LOC130065472, SEC23B	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia	GUncertain significance
Select item 337781	NM_006363.5(SEC23B):c.-232C>G	LOC130065472, SEC23B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 337782	NM_006363.5(SEC23B):c.-186G>T	LOC130065472, SEC23B	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia	GUncertain significance
Select item 337783	NM_006363.5(SEC23B):c.-94C>G	SEC23B	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia	GUncertain significance
Select item 337784	NM_006363.5(SEC23B):c.-80G>A	SEC23B	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia	GUncertain significance
Select item 337785	NM_006363.5(SEC23B):c.-76G>C	SEC23B	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia	GUncertain significance
Select item 337786	NM_006363.5(SEC23B):c.-57G>C	SEC23B	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia	GLikely benign
Select item 337787	NM_006363.5(SEC23B):c.-52T>G	SEC23B	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia	GUncertain significance
Select item 337788	NM_006363.6(SEC23B):c.-24C>T	SEC23B	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital dyserythropoietic anemia, type II	GBenign
Select item 1163639	NM_006363.6(SEC23B):c.-15+59G>A	SEC23B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1281680	NM_006363.6(SEC23B):c.-15+138G>C	SEC23B	Single nucleotide variant (5 prime UTR variant +1 more)	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 1030101	NM_006363.6(SEC23B):c.-14-1G>A	SEC23B	Single nucleotide variant (splice acceptor variant)	Congenital dyserythropoietic anemia, type II	GUncertain significance
Select item 337789	NM_006363.6(SEC23B):c.-8T>C	SEC23B	Single nucleotide variant (5 prime UTR variant)	Congenital dyserythropoietic anemia, type II	GUncertain significance
Select item 2041736	NM_006363.6(SEC23B):c.5C>T (p.Ala2Val)	SEC23B (A2V)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type II +1 more	GUncertain significance
Select item 1895564	NM_006363.6(SEC23B):c.6G>A (p.Ala2=)	SEC23B	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2937249	NM_006363.6(SEC23B):c.9A>G (p.Thr3=)	SEC23B	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2948326	NM_006363.6(SEC23B):c.24C>T (p.Ile8=)	SEC23B	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2944611	NM_006363.6(SEC23B):c.24C>A (p.Ile8=)	SEC23B	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 1223	NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp)	SEC23B (R14W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1701418	NM_006363.6(SEC23B):c.53G>A (p.Arg18His)	SEC23B (R18H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1701419	NM_006363.6(SEC23B):c.64A>G (p.Asn22Asp)	SEC23B (N22D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337566	NM_006363.6(SEC23B):c.66C>A (p.Asn22Lys)	SEC23B (N22K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 532196	NM_006363.6(SEC23B):c.66C>T (p.Asn22=)	SEC23B	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type II +1 more	GBenign
Select item 167665	NM_006363.6(SEC23B):c.74C>A (p.Pro25His)	SEC23B (P25H)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type II +2 more	GConflicting classifications of pathogenicity
Select item 2952048	NM_006363.6(SEC23B):c.78C>T (p.Ser26=)	SEC23B	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 993624	NM_006363.6(SEC23B):c.82C>T (p.Arg28Trp)	SEC23B (R28W)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type II +2 more	GUncertain significance
Select item 2397800	NM_006363.6(SEC23B):c.83G>A (p.Arg28Gln)	SEC23B (R28Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2936981	NM_006363.6(SEC23B):c.84G>A (p.Arg28=)	SEC23B	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 337790	NM_006363.6(SEC23B):c.85C>T (p.Leu29=)	SEC23B	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type II +1 more	GConflicting classifications of pathogenicity
Select item 2923697	NM_006363.6(SEC23B):c.87G>A (p.Leu29=)	SEC23B	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 3358040	NM_006363.6(SEC23B):c.89A>C (p.Glu30Ala)	SEC23B (E30A)	Single nucleotide variant (missense variant)	SEC23B-related disorder	GUncertain significance
Select item 2930446	NM_006363.6(SEC23B):c.93T>G (p.Ala31=)	SEC23B	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2922886	NM_006363.6(SEC23B):c.96A>G (p.Thr32=)	SEC23B	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
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 2953099	NM_006363.6(SEC23B):c.105T>C (p.Val35=)	SEC23B	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 1705507	NM_006363.6(SEC23B):c.113del (p.Leu38fs)	SEC23B (L38fs)	Deletion (frameshift variant)	Congenital dyserythropoietic anemia, type II	GLikely pathogenic
Select item 2943813	NM_006363.6(SEC23B):c.117T>C (p.Ala39=)	SEC23B	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 750997	NM_006363.6(SEC23B):c.123C>T (p.Leu41=)	SEC23B	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 3317098	NM_006363.6(SEC23B):c.125T>A (p.Leu42His)	SEC23B (L42H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2433287	NM_006363.6(SEC23B):c.126del (p.Thr43fs)	SEC23B (T43fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3159249	NM_006363.6(SEC23B):c.143G>A (p.Arg48His)	SEC23B (R48H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2178799	NM_006363.6(SEC23B):c.146C>T (p.Pro49Leu)	SEC23B (P49L)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type II +1 more	GUncertain significance
Select item 2932448	NM_006363.6(SEC23B):c.153A>T (p.Leu51=)	SEC23B	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2938010	NM_006363.6(SEC23B):c.162A>G (p.Val54=)	SEC23B	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 3159250	NM_006363.6(SEC23B):c.164A>T (p.Gln55Leu)	SEC23B (Q55L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2929139	NM_006363.6(SEC23B):c.164A>C (p.Gln55Pro)	SEC23B (Q55P)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type II +1 more	GUncertain significance
Select item 2932931	NM_006363.6(SEC23B):c.165A>G (p.Gln55=)	SEC23B	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 1953169	NM_006363.6(SEC23B):c.183C>T (p.Cys61=)	SEC23B	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2948857	NM_006363.6(SEC23B):c.195T>C (p.Thr65=)	SEC23B	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 897909	NM_006363.6(SEC23B):c.202G>A (p.Ala68Thr)	SEC23B (A68T)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type II	GUncertain significance
Select item 2142114	NM_006363.6(SEC23B):c.208C>T (p.Leu70Phe)	SEC23B (L70F)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type II +1 more	GUncertain significance
Select item 998436	NM_006363.6(SEC23B):c.211A>C (p.Asn71His)	SEC23B (N71H)	Single nucleotide variant (missense variant)	SEC23B-related disorder +2 more	GUncertain significance
Select item 2929396	NM_006363.6(SEC23B):c.216A>G (p.Pro72=)	SEC23B	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2435797	NM_006363.6(SEC23B):c.221G>A (p.Cys74Tyr)	SEC23B (C74Y)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2922360	NM_006363.6(SEC23B):c.221+1G>A	SEC23B	Single nucleotide variant (splice donor variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely pathogenic
Select item 3257448	NM_006363.6(SEC23B):c.221+2T>C	SEC23B	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 847390	NM_006363.6(SEC23B):c.221+3A>G	SEC23B	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type II +2 more	GUncertain significance
Select item 2942659	NM_006363.6(SEC23B):c.221+10C>G	SEC23B	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2926129	NM_006363.6(SEC23B):c.221+31A>T	SEC23B	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 1330767	NM_006363.6(SEC23B):c.221+76A>G	SEC23B	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type II +2 more	GConflicting classifications of pathogenicity
Select item 1679461	NM_006363.6(SEC23B):c.221+159G>A	SEC23B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2949145	NM_006363.6(SEC23B):c.221+163A>G	SEC23B	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type II +2 more	GConflicting classifications of pathogenicity
Select item 1259122	NM_006363.6(SEC23B):c.221+228A>G	SEC23B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226327	NM_006363.6(SEC23B):c.221+351A>G	SEC23B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272467	NM_006363.6(SEC23B):c.221+462_221+463del	SEC23B	Deletion (intron variant)	not provided	GBenign
Select item 1258399	NM_006363.6(SEC23B):c.221+463del	SEC23B	Deletion (intron variant)	not provided	GBenign
Select item 1281227	NM_006363.6(SEC23B):c.222-358C>T	SEC23B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3042560	NM_006363.6(SEC23B):c.222-84A>G	SEC23B	Single nucleotide variant (intron variant)	SEC23B-related disorder	GLikely benign
Select item 1032438	NM_006363.6(SEC23B):c.222-78C>T	SEC23B	Single nucleotide variant (intron variant)	Cowden syndrome 7	GUncertain significance
Select item 2954370	NM_006363.6(SEC23B):c.222-19_222-17del	SEC23B	Microsatellite (intron variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2922236	NM_006363.6(SEC23B):c.222-17_222-15del	SEC23B	Deletion (intron variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2945541	NM_006363.6(SEC23B):c.222-15T>A	SEC23B	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2922755	NM_006363.6(SEC23B):c.222-7C>G	SEC23B	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2949748	NM_006363.6(SEC23B):c.222-4A>G	SEC23B	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2924090	NC_000020.11:g.18512225_18512228del	SEC23B	Deletion	Congenital dyserythropoietic anemia, type II +1 more	GPathogenic
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 642626	NC_000020.11:g.(?_18512225)_(18515736_?)del	SEC23B	Deletion	Congenital dyserythropoietic anemia, type II +1 more	GPathogenic
Select item 2928166	NM_006363.6(SEC23B):c.225G>A (p.Gln75=)	SEC23B	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2923149	NM_006363.6(SEC23B):c.235C>T (p.Arg79Ter)	SEC23B (R79*)	Single nucleotide variant (nonsense)	Congenital dyserythropoietic anemia, type II +1 more	GPathogenic
Select item 897910	NM_006363.6(SEC23B):c.236G>A (p.Arg79Gln)	SEC23B (R79Q)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type II	GUncertain significance
Select item 2305654	NM_006363.6(SEC23B):c.244C>T (p.Leu82Phe)	SEC23B (L82F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2934227	NM_006363.6(SEC23B):c.246T>C (p.Leu82=)	SEC23B	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2940684	NM_006363.6(SEC23B):c.249G>A (p.Trp83Ter)	SEC23B (W83*)	Single nucleotide variant (nonsense)	Congenital dyserythropoietic anemia, type II +1 more	GPathogenic

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