3039[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 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 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 146921	GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	AATBC, ABCG1 +568 more	Copy number gain	See cases	GPathogenic
Select item 57360	GRCh38/hg38 21q22.13-22.3(chr21:37135738-42434515)x1	ABCG1, B3GALT5 +224 more	Copy number loss	See cases	GPathogenic
Select item 149036	GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1	AATBC, ABCG1 +516 more	Copy number loss	See cases	GPathogenic
Select item 154214	GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1	AATBC, ABCG1 +482 more	Copy number loss	See cases	GPathogenic
Select item 545244	NC_000021.9:g.(?_38981673)_(41568791_?)del	FAM3B, GET1 +85 more	Deletion	Autism	GLikely pathogenic
Select item 154583	GRCh38/hg38 21q22.2-22.3(chr21:39375937-44246148)x1	AATBC, ABCG1 +268 more	Copy number loss	See cases	GPathogenic
Select item 2212040	NM_001389.5(DSCAM):c.5980G>A (p.Asp1994Asn)	DSCAM (D1976N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2366416	NM_001389.5(DSCAM):c.5955G>A (p.Met1985Ile)	DSCAM (M1967I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2635454	NM_001389.5(DSCAM):c.5926G>C (p.Gly1976Arg)	DSCAM (G1958R +1 more)	Single nucleotide variant (missense variant +1 more)	DSCAM-related disorder	GUncertain significance
Select item 3238994	NM_001389.5(DSCAM):c.5879G>A (p.Gly1960Glu)	DSCAM (G1942E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 746961	NM_001389.5(DSCAM):c.5871G>A (p.Thr1957=)	DSCAM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2520528	NM_001389.5(DSCAM):c.5867C>G (p.Ser1956Cys)	DSCAM (S1956C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3085884	NM_001389.5(DSCAM):c.5842A>G (p.Met1948Val)	DSCAM (M1930V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 749504	NM_001389.5(DSCAM):c.5823G>A (p.Thr1941=)	DSCAM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3273815	NM_001389.5(DSCAM):c.5695A>G (p.Ile1899Val)	DSCAM (I1899V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3085883	NM_001389.5(DSCAM):c.5630A>T (p.Lys1877Ile)	DSCAM (K1877I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2283171	NM_001389.5(DSCAM):c.5609G>A (p.Arg1870Lys)	DSCAM (R1870K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 545077	NM_001389.5(DSCAM):c.5588del (p.Pro1863fs)	DSCAM (P1863fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 739879	NM_001389.5(DSCAM):c.5526G>C (p.Thr1842=)	DSCAM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 726548	NM_001389.5(DSCAM):c.5526G>A (p.Thr1842=)	DSCAM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2286437	NM_001389.5(DSCAM):c.5515A>G (p.Ile1839Val)	DSCAM (I1839V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 726823	NM_001389.5(DSCAM):c.5460C>T (p.His1820=)	DSCAM	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2652669	NM_001389.5(DSCAM):c.5454C>T (p.Tyr1818=)	DSCAM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2314323	NM_001389.5(DSCAM):c.5396G>A (p.Ser1799Asn)	DSCAM (S1799N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 778180	NM_001389.5(DSCAM):c.5394A>G (p.Arg1798=)	DSCAM	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 742975	NM_001389.5(DSCAM):c.5388A>C (p.Arg1796=)	DSCAM	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 787505	NM_001389.5(DSCAM):c.5383+9T>A	DSCAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3048065	NM_001389.5(DSCAM):c.5373G>A (p.Ser1791=)	DSCAM	Single nucleotide variant (synonymous variant +1 more)	DSCAM-related disorder	GLikely benign
Select item 975379	NM_001389.5(DSCAM):c.5362G>A (p.Val1788Ile)	DSCAM (V1788I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2375587	NM_001389.5(DSCAM):c.5359A>G (p.Ser1787Gly)	DSCAM (S1787G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2346659	NM_001389.5(DSCAM):c.5346G>C (p.Glu1782Asp)	DSCAM (E1782D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2235854	NM_001389.5(DSCAM):c.5318C>A (p.Pro1773His)	DSCAM (P1773H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484524	NM_001389.5(DSCAM):c.5294C>A (p.Thr1765Asn)	DSCAM (T1765N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2482944	NM_001389.5(DSCAM):c.5290C>T (p.Leu1764Phe)	DSCAM (L1764F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2619037	NM_001389.5(DSCAM):c.5284C>T (p.His1762Tyr)	DSCAM (H1762Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 770008	NM_001389.5(DSCAM):c.5280A>G (p.Ser1760=)	DSCAM	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 975377	NM_001389.5(DSCAM):c.5269C>A (p.Pro1757Thr)	DSCAM (P1757T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 521597	NM_001389.5(DSCAM):c.5260C>T (p.Arg1754Ter)	DSCAM (R1754*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 2394438	NM_001389.5(DSCAM):c.5225C>T (p.Ala1742Val)	DSCAM (A1742V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2227467	NM_001389.5(DSCAM):c.5185+2T>C	DSCAM	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GUncertain significance
Select item 2546233	NM_001389.5(DSCAM):c.5182A>G (p.Thr1728Ala)	DSCAM (T1728A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3040760	NM_001389.5(DSCAM):c.5115G>A (p.Thr1705=)	DSCAM	Single nucleotide variant (synonymous variant +1 more)	DSCAM-related disorder	GLikely benign
Select item 758217	NM_001389.5(DSCAM):c.5061G>C (p.Thr1687=)	DSCAM	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3026291	NM_001389.5(DSCAM):c.5049G>A (p.Thr1683=)	DSCAM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2688977	NM_001389.5(DSCAM):c.5048C>T (p.Thr1683Met)	DSCAM (T1683M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2375196	NM_001389.5(DSCAM):c.5041C>T (p.Arg1681Cys)	DSCAM (R1681C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3349942	NM_001389.5(DSCAM):c.5036-2A>G	DSCAM	Single nucleotide variant (splice acceptor variant)	DSCAM-related disorder	GUncertain significance
Select item 691432	NM_001389.5(DSCAM):c.4979T>A (p.Ile1660Asn)	DSCAM (I1660N)	Single nucleotide variant (missense variant +1 more)	Esophageal atresia +1 more	GUncertain significance
Select item 3239305	NM_001389.5(DSCAM):c.4970G>A (p.Arg1657Gln)	DSCAM (R1657Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3036632	NM_001389.5(DSCAM):c.4969C>T (p.Arg1657Ter)	DSCAM (R1657*)	Single nucleotide variant (nonsense +1 more)	DSCAM-related disorder	GUncertain significance
Select item 2296844	NM_001389.5(DSCAM):c.4957C>G (p.Gln1653Glu)	DSCAM (Q1653E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2240874	NM_001389.5(DSCAM):c.4889-4C>G	DSCAM	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3273805	NM_001389.5(DSCAM):c.4850G>A (p.Arg1617Gln)	DSCAM (R1617Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607604	NM_001389.5(DSCAM):c.4730T>A (p.Ile1577Asn)	DSCAM (I1577N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615593	NM_001389.5(DSCAM):c.4717A>G (p.Ile1573Val)	DSCAM (I1573V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2311844	NM_001389.5(DSCAM):c.4690G>A (p.Ala1564Thr)	DSCAM (A1564T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 747220	NM_001389.5(DSCAM):c.4683C>G (p.Ala1561=)	DSCAM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3046579	NM_001389.5(DSCAM):c.4677G>A (p.Lys1559=)	DSCAM	Single nucleotide variant (synonymous variant +1 more)	DSCAM-related disorder	GLikely benign
Select item 708014	NM_001389.5(DSCAM):c.4662G>A (p.Ala1554=)	DSCAM	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2629791	NM_001389.5(DSCAM):c.4644G>T (p.Met1548Ile)	DSCAM (M1548I)	Single nucleotide variant (missense variant +1 more)	DSCAM-related disorder	GUncertain significance
Select item 2554159	NM_001389.5(DSCAM):c.4556C>A (p.Thr1519Lys)	DSCAM (T1519K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 975376	NM_001389.5(DSCAM):c.4548T>G (p.Phe1516Leu)	DSCAM (F1516L)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GLikely benign
Select item 2544922	NM_001389.5(DSCAM):c.4532T>C (p.Leu1511Pro)	DSCAM (L1511P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 789248	NM_001389.5(DSCAM):c.4521C>T (p.Thr1507=)	DSCAM	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 732519	NM_001389.5(DSCAM):c.4506C>T (p.Gly1502=)	DSCAM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2628499	NM_001389.5(DSCAM):c.4420G>T (p.Glu1474Ter)	DSCAM (E1474*)	Single nucleotide variant (nonsense +1 more)	DSCAM-related disorder	GLikely pathogenic
Select item 3085882	NM_001389.5(DSCAM):c.4382G>A (p.Arg1461His)	DSCAM (R1461H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3239122	NM_001389.5(DSCAM):c.4380G>T (p.Gly1460=)	DSCAM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2263304	NM_001389.5(DSCAM):c.4348A>G (p.Thr1450Ala)	DSCAM (T1450A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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