23572[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 149035	GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1	KCNJ6, KCNJ6-AS1 +643 more	Copy number loss	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	LOC128849172, LOC129388418 +884 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LINC01424, LINC01436 +643 more	Copy number loss	See cases	GPathogenic
Select item 146086	GRCh38/hg38 21q22.12-22.2(chr21:35543872-39993338)x1	B3GALT5, B3GALT5-AS1 +177 more	Copy number loss	See cases	GPathogenic
Select item 144137	GRCh38/hg38 21q22.12-22.2(chr21:35772177-38558509)x1	CBR1, CBR1-AS1 +110 more	Copy number loss	See cases	GPathogenic
Select item 149106	GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3	AATBC, ABCG1 +598 more	Copy number gain	See cases	GPathogenic
Select item 145644	GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	LOC130066759, LOC130066760 +586 more	Copy number gain	See cases	GPathogenic
Select item 2314464	NM_015358.3(MORC3):c.19C>G (p.Arg7Gly)	MORC3 (R7G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3200009	NM_015358.3(MORC3):c.109A>G (p.Ile37Val)	MORC3 (I37V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3200043	NM_015358.3(MORC3):c.179A>G (p.His60Arg)	LOC125418071, MORC3 (H60R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3200102	NM_015358.3(MORC3):c.283G>A (p.Val95Ile)	LOC125418071, MORC3 (V95I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337456	NM_015358.3(MORC3):c.343G>T (p.Ala115Ser)	MORC3 (A115S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375721	NM_015358.3(MORC3):c.385C>G (p.Leu129Val)	MORC3 (L129V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200115	NM_015358.3(MORC3):c.452A>G (p.Asn151Ser)	MORC3 (N151S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200122	NM_015358.3(MORC3):c.529A>G (p.Thr177Ala)	MORC3 (T106A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476766	NM_015358.3(MORC3):c.892A>G (p.Thr298Ala)	MORC3 (T298A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200011	NM_015358.3(MORC3):c.1213C>T (p.Arg405Cys)	MORC3 (R334C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314921	NM_015358.3(MORC3):c.1278G>A (p.Met426Ile)	MORC3 (M426I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2652646	NM_015358.3(MORC3):c.1284A>G (p.Gln428=)	MORC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2258808	NM_015358.3(MORC3):c.1336T>G (p.Cys446Gly)	MORC3 (C446G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273196	NM_015358.3(MORC3):c.1366G>C (p.Asp456His)	MORC3 (D385H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235469	NM_015358.3(MORC3):c.1517A>G (p.Glu506Gly)	MORC3 (E506G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508108	NM_015358.3(MORC3):c.1534C>T (p.His512Tyr)	MORC3 (H441Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525284	NM_015358.3(MORC3):c.1535A>G (p.His512Arg)	MORC3 (H512R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544767	NM_015358.3(MORC3):c.1577A>C (p.Asn526Thr)	MORC3 (N455T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295577	NM_015358.3(MORC3):c.1595C>A (p.Pro532His)	MORC3 (P532H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542878	NM_015358.3(MORC3):c.1620C>G (p.Ser540Arg)	MORC3 (S469R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510293	NM_015358.3(MORC3):c.1642C>T (p.Arg548Cys)	MORC3 (R477C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476278	NM_015358.3(MORC3):c.1684C>G (p.Gln562Glu)	MORC3 (Q491E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295578	NM_015358.3(MORC3):c.1806C>A (p.His602Gln)	MORC3 (H602Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200048	NM_015358.3(MORC3):c.1807G>A (p.Val603Ile)	MORC3 (V532I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3200053	NM_015358.3(MORC3):c.1853C>G (p.Pro618Arg)	MORC3 (P618R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773090	NM_015358.3(MORC3):c.1884A>G (p.Ser628=)	MORC3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2546717	NM_015358.3(MORC3):c.1888T>C (p.Ser630Pro)	MORC3 (S630P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295574	NM_015358.3(MORC3):c.1972G>A (p.Glu658Lys)	MORC3 (E587K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387212	NM_015358.3(MORC3):c.1993G>A (p.Ala665Thr)	MORC3 (A594T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3295575	NM_015358.3(MORC3):c.2005C>T (p.Pro669Ser)	MORC3 (P669S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200065	NM_015358.3(MORC3):c.2042C>A (p.Thr681Asn)	MORC3 (T610N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200068	NM_015358.3(MORC3):c.2056G>A (p.Asp686Asn)	MORC3 (D615N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218616	NM_015358.3(MORC3):c.2146C>G (p.Gln716Glu)	MORC3 (Q716E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508109	NM_015358.3(MORC3):c.2153A>T (p.His718Leu)	MORC3 (H647L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200077	NM_015358.3(MORC3):c.2228C>T (p.Thr743Ile)	MORC3 (T743I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295573	NM_015358.3(MORC3):c.2243C>T (p.Thr748Ile)	MORC3 (T677I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335206	NM_015358.3(MORC3):c.2267T>C (p.Leu756Pro)	MORC3 (L685P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484260	NM_015358.3(MORC3):c.2272A>G (p.Ser758Gly)	MORC3 (S687G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295576	NM_015358.3(MORC3):c.2305A>G (p.Met769Val)	MORC3 (M698V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2469177	NM_015358.3(MORC3):c.2318A>G (p.Tyr773Cys)	MORC3 (Y702C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383178	NM_015358.3(MORC3):c.2359T>C (p.Cys787Arg)	MORC3 (C787R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200082	NM_015358.3(MORC3):c.2399G>T (p.Cys800Phe)	MORC3 (C729F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455908	NM_015358.3(MORC3):c.2546C>T (p.Ser849Leu)	MORC3 (S849L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547127	NM_015358.3(MORC3):c.2642C>T (p.Ser881Phe)	MORC3 (S881F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273760	NM_015358.3(MORC3):c.2656G>T (p.Asp886Tyr)	MORC3 (D886Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200094	NM_015358.3(MORC3):c.2718T>G (p.Ile906Met)	MORC3 (I906M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317115	NM_015358.3(MORC3):c.2740C>A (p.Gln914Lys)	MORC3 (Q914K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235154	NM_015358.3(MORC3):c.2815A>G (p.Thr939Ala)	MORC3 (T868A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248159	NC_000021.8:g.(?_37133458)_(38884834_?)dup	CBR1, CBR3 +12 more	Duplication	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 3248151	NC_000021.8:g.(?_36164432)_(37834775_?)del	CBR1, CBR3 +6 more	Deletion	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GPathogenic
Select item 3248147	NC_000021.8:g.(?_37707582)_(38139606_?)del	CHAF1B, CLDN14 +3 more	Deletion	Holocarboxylase synthetase deficiency	GPathogenic
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not provided	GPathogenic
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062428	GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	KCNJ15, KCNJ6 +118 more	Copy number loss	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	ABCG1, ADAMTS1 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	ABCG1, ADARB1 +186 more	Copy number gain	not specified	GPathogenic
Select item 2684914	GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3	ABCG1, ADARB1 +148 more	Copy number gain	not provided	GPathogenic
Select item 2684910	GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	CLDN14, CLDN17 +170 more	Copy number gain	not provided	GPathogenic
Select item 1705932	GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	Down syndrome	GPathogenic
Select item 1526710	GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854)	KRTAP20-1, KRTAP20-2 +91 more	Copy number gain	not specified	GPathogenic
Select item 1526706	GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)	ADAMTS1, ADAMTS5 +216 more	Copy number gain	not specified	GPathogenic
Select item 1526705	GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372)	KCNJ15, N6AMT1 +216 more	Copy number gain	not specified	GPathogenic
Select item 1412731	NC_000021.8:g.(?_37507491)_(39212984_?)dup	CBR3, CHAF1B +11 more	Duplication	not provided	GUncertain significance
Select item 1409651	NC_000021.8:g.(?_32439271)_(39212984_?)dup	EVA1C, OLIG2 +48 more	Duplication	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 +3 more	GUncertain significance
Select item 1341200	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic

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