RPL3L[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	LOC112340388, LOC112441449 +821 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	OR1F1, OR2C1 +916 more	Copy number gain	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC130058195, LOC130058196 +556 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	RMI2, RNF151 +842 more	Copy number gain	See cases	GPathogenic
Select item 59411	GRCh38/hg38 16p13.3(chr16:46766-1997582)x1	AXIN1, BAIAP3 +253 more	Copy number loss	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	LOC130058340, LOC130058341 +925 more	Copy number gain	See cases	GPathogenic
Select item 58600	GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3	BAIAP3, BRICD5 +162 more	Copy number gain	See cases	GPathogenic
Select item 58604	GRCh38/hg38 16p13.3(chr16:1816283-2020966)x3	FAHD1, GFER +40 more	Copy number gain	See cases	GPathogenic
Select item 146395	GRCh38/hg38 16p13.3(chr16:1850978-2116369)x3	GFER, HS3ST6 +44 more	Copy number gain	See cases	GUncertain significance
Select item 978603	NC_000016.10:g.1851807_2093151del	GFER, HS3ST6 +43 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 1696839	NC_000016.10:g.1903155_2093402del	GFER, HS3ST6 +40 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 3062007	NM_005061.3(RPL3L):c.1202C>T (p.Pro401Leu)	RPL3L (P401L)	Single nucleotide variant (missense variant)	Cardiomyopathy, dilated, 2D	GUncertain significance
Select item 2413034	NM_005061.3(RPL3L):c.1167+1G>A	RPL3L	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2527187	NM_005061.3(RPL3L):c.1127A>G (p.His376Arg)	RPL3L (H376R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1199411	NM_005061.3(RPL3L):c.1076_1080del (p.Ala359fs)	RPL3L (A359fs)	Deletion (frameshift variant)	Cardiomyopathy, dilated, 2D	GUncertain significance
Select item 784692	NM_005061.3(RPL3L):c.1078G>A (p.Val360Met)	RPL3L (V360M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2226178	NM_005061.3(RPL3L):c.1069C>T (p.Arg357Cys)	RPL3L (R357C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341216	NM_005061.3(RPL3L):c.1060C>T (p.His354Tyr)	RPL3L (H354Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1162249	NM_005061.3(RPL3L):c.1027C>T (p.Arg343Trp)	RPL3L (R343W)	Single nucleotide variant (missense variant)	Cardiomyopathy, dilated, 2D	GPathogenic
Select item 2498637	NM_005061.3(RPL3L):c.1013C>G (p.Ala338Gly)	RPL3L (A338G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2371291	NM_005061.3(RPL3L):c.1002G>C (p.Lys334Asn)	RPL3L (K334N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553107	NM_005061.3(RPL3L):c.985G>A (p.Asp329Asn)	RPL3L (D329N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1162248	NM_005061.3(RPL3L):c.923A>T (p.Asp308Val)	RPL3L (D308V)	Single nucleotide variant (missense variant)	Cardiomyopathy, dilated, 2D	GPathogenic
Select item 1162251	NM_005061.3(RPL3L):c.922G>A (p.Asp308Asn)	RPL3L (D308N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2310413	NM_005061.3(RPL3L):c.918C>A (p.Ser306Arg)	RPL3L (S306R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210969	NM_005061.3(RPL3L):c.905A>G (p.Asn302Ser)	RPL3L (N302S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543481	NM_005061.3(RPL3L):c.899A>G (p.Lys300Arg)	RPL3L (K300R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527778	NM_005061.3(RPL3L):c.857G>A (p.Arg286His)	RPL3L (R286H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498271	NM_005061.3(RPL3L):c.829C>T (p.Arg277Cys)	RPL3L (R277C)	Single nucleotide variant (missense variant)	Cardiomyopathy, dilated, 2D	GUncertain significance
Select item 3066154	NM_005061.3(RPL3L):c.808G>A (p.Gly270Arg)	RPL3L (G270R)	Single nucleotide variant (missense variant)	Cardiomyopathy, dilated, 2D	GUncertain significance
Select item 2396071	NM_005061.3(RPL3L):c.782G>A (p.Arg261His)	RPL3L (R261H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3026160	NM_005061.3(RPL3L):c.778G>C (p.Ala260Pro)	RPL3L (A260P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2352897	NM_005061.3(RPL3L):c.778G>A (p.Ala260Thr)	RPL3L (A260T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382973	NM_005061.3(RPL3L):c.766G>A (p.Ala256Thr)	RPL3L (A256T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065369	NM_005061.3(RPL3L):c.749_751del (p.Lys250_Val251delinsMet)	RPL3L	Deletion (inframe_indel)	Cardiomyopathy, dilated, 2D	GUncertain significance
Select item 2561064	NM_005061.3(RPL3L):c.746G>A (p.Arg249His)	RPL3L (R249H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 718039	NM_005061.3(RPL3L):c.724C>T (p.Arg242Trp)	RPL3L (R242W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1699411	NM_005061.3(RPL3L):c.722C>T (p.Pro241Leu)	RPL3L (P241L)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2512050	NM_005061.3(RPL3L):c.701G>T (p.Arg234Leu)	RPL3L (R234L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1802091	NM_005061.3(RPL3L):c.691G>T (p.Val231Phe)	RPL3L (V231F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2353826	NM_005061.3(RPL3L):c.628G>A (p.Val210Met)	RPL3L (V210M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 715774	NM_005061.3(RPL3L):c.599G>A (p.Arg200Gln)	RPL3L (R200Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2473563	NM_005061.3(RPL3L):c.593A>C (p.Gln198Pro)	RPL3L (Q198P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1162250	NM_005061.3(RPL3L):c.566C>T (p.Thr189Met)	RPL3L (T189M)	Single nucleotide variant (missense variant)	Cardiomyopathy, dilated, 2D	GPathogenic
Select item 2374989	NM_005061.3(RPL3L):c.559G>A (p.Gly187Ser)	RPL3L (G187S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356864	NM_005061.3(RPL3L):c.520C>T (p.Arg174Trp)	RPL3L (R174W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1162253	NM_005061.3(RPL3L):c.481C>T (p.Arg161Trp)	RPL3L (R161W)	Single nucleotide variant (missense variant)	Cardiomyopathy, dilated, 2D	GPathogenic
Select item 2367508	NM_005061.3(RPL3L):c.451G>A (p.Ala151Thr)	RPL3L (A151T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2645952	NM_005061.3(RPL3L):c.450C>T (p.Phe150=)	RPL3L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1162254	NM_005061.3(RPL3L):c.347G>A (p.Arg116His)	RPL3L (R116H)	Single nucleotide variant (missense variant)	Cardiomyopathy, dilated, 2D	GPathogenic
Select item 2547971	NM_005061.3(RPL3L):c.322G>A (p.Glu108Lys)	RPL3L (E108K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2624228	NM_005061.3(RPL3L):c.302G>C (p.Ser101Thr)	RPL3L (S101T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269472	NM_005061.3(RPL3L):c.299G>A (p.Arg100Gln)	RPL3L (R100Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3024787	NM_005061.3(RPL3L):c.280G>A (p.Ala94Thr)	RPL3L (A94T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2592671	NM_005061.3(RPL3L):c.265G>A (p.Val89Met)	RPL3L (V89M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224957	NM_005061.3(RPL3L):c.245C>T (p.Pro82Leu)	RPL3L (P82L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295427	NM_005061.3(RPL3L):c.188C>T (p.Pro63Leu)	RPL3L (P63L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317929	NM_005061.3(RPL3L):c.185G>A (p.Arg62Gln)	RPL3L (R62Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330171	NM_005061.3(RPL3L):c.184C>T (p.Arg62Trp)	RPL3L (R62W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1802077	NM_005061.3(RPL3L):c.151G>A (p.Ala51Thr)	RPL3L (A51T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2397388	NM_005061.3(RPL3L):c.146A>G (p.Tyr49Cys)	RPL3L (Y49C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602258	NM_005061.3(RPL3L):c.143G>T (p.Gly48Val)	RPL3L (G48V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343926	NM_005061.3(RPL3L):c.131C>A (p.Thr44Lys)	RPL3L (T44K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498638	NM_005061.3(RPL3L):c.99G>A (p.Pro33=)	RPL3L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2377313	NM_005061.3(RPL3L):c.98C>T (p.Pro33Leu)	RPL3L (P33L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282834	NM_005061.3(RPL3L):c.92C>T (p.Thr31Met)	RPL3L (T31M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1162252	NM_005061.3(RPL3L):c.80G>A (p.Gly27Asp)	RPL3L (G27D)	Single nucleotide variant (missense variant)	Cardiomyopathy, dilated, 2D	GPathogenic/Likely pathogenic
Select item 2347819	NM_005061.3(RPL3L):c.76C>T (p.Arg26Trp)	RPL3L (R26W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224133	NM_005061.3(RPL3L):c.70C>T (p.Arg24Trp)	RPL3L (R24W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3024772	NM_005061.3(RPL3L):c.34G>A (p.Gly12Arg)	RPL3L (G12R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2355585	NM_005061.3(RPL3L):c.28C>T (p.Arg10Trp)	RPL3L (R10W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220099	NM_005061.3(RPL3L):c.10C>T (p.Arg4Trp)	RPL3L (R4W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2684772	GRCh37/hg19 16p13.3(chr16:1054247-2592737)x3	ABCA3, AMDHD2 +66 more	Copy number gain	not provided	GLikely pathogenic
Select item 2498682	GRCh37/hg19 16p13.3(chr16:811896-2130379)x1	BAIAP3, C1QTNF8 +52 more	Copy number loss	not provided	GPathogenic
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	PRSS21, PRSS22 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 1808520	GRCh37/hg19 16p13.3(chr16:1942430-2653144)x3	ABCA3, AMDHD2 +35 more	Copy number gain	not provided	GUncertain significance
Select item 1808452	GRCh37/hg19 16p13.3(chr16:1129080-2021055)x3	BAIAP3, C1QTNF8 +36 more	Copy number gain	not provided	GUncertain significance
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1526483	GRCh37/hg19 16p13.3(chr16:1847662-2653144)	ABCA3, AMDHD2 +38 more	Copy number gain	not specified	GUncertain significance
Select item 1459269	NC_000016.9:g.(?_2003468)_(2126543_?)del	GFER, NDUFB10 +12 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 1340286	GRCh37/hg19 16p13.3(chr16:1830141-2592737)x3	ABCA3, AMDHD2 +41 more	Copy number gain	not provided	GUncertain significance
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 1017417	NC_000016.9:g.(?_624055)_(2153916_?)dup	EME2, FAHD1 +71 more	Duplication	Epilepsy +2 more	GUncertain significance
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 833445	NC_000016.9:g.(?_1203718)_(2185710_?)del	BAIAP3, CACNA1H +45 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 833344	NC_000016.9:g.(?_624055)_(2550979_?)dup	ABCA3, ANTKMT +86 more	Duplication	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 832709	NC_000016.9:g.(?_624055)_(2148005_?)del	ANTKMT, BAIAP3 +71 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 831814	NC_000016.10:g.(?_1523498)_(2064447_?)del	FAHD1, CRAMP1 +28 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 689437	Single allele	CRAMP1, EME2 +28 more	Inversion	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 688348	GRCh37/hg19 16p13.3(chr16:85880-2053328)x1	ANTKMT, ARHGDIG +89 more	Copy number loss	not provided	GPathogenic
Select item 655214	NC_000016.9:g.(?_624055)_(2115656_?)del	SYNGR3, UQCC4 +69 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 625723	GRCh37/hg19 16p13.3(chr16:109978-4316797)	ABCA3, ADCY9 +159 more	Copy number gain	Chromosome 16p13.3 duplication syndrome	GPathogenic
Select item 564257	GRCh37/hg19 16p13.3(chr16:1734363-2285561)x1	BRICD5, CASKIN1 +34 more	Copy number loss	not provided	GPathogenic
Select item 564256	GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3	ABCA3, ADCY9 +103 more	Copy number gain	not provided	GPathogenic
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic
Select item 564253	GRCh37/hg19 16p13.3(chr16:85880-3216551)x3	ABCA3, AMDHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 443477	GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	ABAT, ABCA3 +198 more	Copy number gain	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic

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