6123[geneid] - 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	ABAT, ABCA3 +822 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	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 59411	GRCh38/hg38 16p13.3(chr16:46766-1997582)x1	ANTKMT, ARHGDIG +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	ABAT, ABCA3 +926 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 3337524	NM_005061.3(RPL3L):c.1150G>A (p.Glu384Lys)	RPL3L (E384K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2527187	NM_005061.3(RPL3L):c.1127A>G (p.His376Arg)	RPL3L (H376R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1199411	NM_005061.3(RPL3L):c.1076_1080del (p.Ala359fs)	RPL3L (A359fs)	Deletion (frameshift variant)	Cardiomyopathy, dilated, 2D +1 more	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 3156084	NM_005061.3(RPL3L):c.1070G>A (p.Arg357His)	RPL3L (R357H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226178	NM_005061.3(RPL3L):c.1069C>T (p.Arg357Cys)	RPL3L (R357C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341216	NM_005061.3(RPL3L):c.1060C>T (p.His354Tyr)	RPL3L (H354Y)	Single nucleotide variant (missense variant)	not specified	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 3365959	NM_005061.3(RPL3L):c.1018dup (p.Thr340fs)	RPL3L (T340fs)	Duplication (frameshift variant)	not provided	GUncertain significance
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)	not specified	GUncertain significance
Select item 2553107	NM_005061.3(RPL3L):c.985G>A (p.Asp329Asn)	RPL3L (D329N)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2210969	NM_005061.3(RPL3L):c.905A>G (p.Asn302Ser)	RPL3L (N302S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543481	NM_005061.3(RPL3L):c.899A>G (p.Lys300Arg)	RPL3L (K300R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527778	NM_005061.3(RPL3L):c.857G>A (p.Arg286His)	RPL3L (R286H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315207	NM_005061.3(RPL3L):c.833C>T (p.Thr278Met)	RPL3L (T278M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315204	NM_005061.3(RPL3L):c.830G>A (p.Arg277His)	RPL3L (R277H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498271	NM_005061.3(RPL3L):c.829C>T (p.Arg277Cys)	RPL3L (R277C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3156097	NM_005061.3(RPL3L):c.821A>G (p.Tyr274Cys)	RPL3L (Y274C)	Single nucleotide variant (missense variant)	not specified	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 3156096	NM_005061.3(RPL3L):c.785T>C (p.Val262Ala)	RPL3L (V262A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396071	NM_005061.3(RPL3L):c.782G>A (p.Arg261His)	RPL3L (R261H)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2382973	NM_005061.3(RPL3L):c.766G>A (p.Ala256Thr)	RPL3L (A256T)	Single nucleotide variant (missense variant)	not provided +1 more	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)	not specified	GUncertain significance
Select item 3156095	NM_005061.3(RPL3L):c.745C>T (p.Arg249Cys)	RPL3L (R249C)	Single nucleotide variant (missense variant)	not specified	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 3156094	NM_005061.3(RPL3L):c.707A>G (p.His236Arg)	RPL3L (H236R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512050	NM_005061.3(RPL3L):c.701G>T (p.Arg234Leu)	RPL3L (R234L)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 3156093	NM_005061.3(RPL3L):c.617C>T (p.Pro206Leu)	RPL3L (P206L)	Single nucleotide variant (missense variant)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3315205	NM_005061.3(RPL3L):c.533C>T (p.Ala178Val)	RPL3L (A178V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315208	NM_005061.3(RPL3L):c.525G>C (p.Gln175His)	RPL3L (Q175H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156092	NM_005061.3(RPL3L):c.521G>A (p.Arg174Gln)	RPL3L (R174Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356864	NM_005061.3(RPL3L):c.520C>T (p.Arg174Trp)	RPL3L (R174W)	Single nucleotide variant (missense variant)	not specified	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 3156091	NM_005061.3(RPL3L):c.480T>G (p.Ile160Met)	RPL3L (I160M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315209	NM_005061.3(RPL3L):c.469T>C (p.Cys157Arg)	RPL3L (C157R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367508	NM_005061.3(RPL3L):c.451G>A (p.Ala151Thr)	RPL3L (A151T)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2624228	NM_005061.3(RPL3L):c.302G>C (p.Ser101Thr)	RPL3L (S101T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269472	NM_005061.3(RPL3L):c.299G>A (p.Arg100Gln)	RPL3L (R100Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3254895	NM_005061.3(RPL3L):c.298C>T (p.Arg100Trp)	RPL3L (R100W)	Single nucleotide variant (missense variant)	Cardiomyopathy, dilated, 2D	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)	not specified	GUncertain significance
Select item 2224957	NM_005061.3(RPL3L):c.245C>T (p.Pro82Leu)	RPL3L (P82L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156089	NM_005061.3(RPL3L):c.242C>T (p.Thr81Met)	RPL3L (T81M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156088	NM_005061.3(RPL3L):c.223G>A (p.Ala75Thr)	RPL3L (A75T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295427	NM_005061.3(RPL3L):c.188C>T (p.Pro63Leu)	RPL3L (P63L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317929	NM_005061.3(RPL3L):c.185G>A (p.Arg62Gln)	RPL3L (R62Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330171	NM_005061.3(RPL3L):c.184C>T (p.Arg62Trp)	RPL3L (R62W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156087	NM_005061.3(RPL3L):c.175G>A (p.Glu59Lys)	RPL3L (E59K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156086	NM_005061.3(RPL3L):c.172C>T (p.Arg58Trp)	RPL3L (R58W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1802077	NM_005061.3(RPL3L):c.151G>A (p.Ala51Thr)	RPL3L (A51T)	Single nucleotide variant (missense variant)	Cardiomyopathy, dilated, 2D +1 more	GUncertain significance
Select item 2397388	NM_005061.3(RPL3L):c.146A>G (p.Tyr49Cys)	RPL3L (Y49C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602258	NM_005061.3(RPL3L):c.143G>T (p.Gly48Val)	RPL3L (G48V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3352698	NM_005061.3(RPL3L):c.132G>A (p.Thr44=)	RPL3L	Single nucleotide variant (synonymous variant)	RPL3L-related condition	GLikely benign
Select item 3156085	NM_005061.3(RPL3L):c.131C>T (p.Thr44Met)	RPL3L (T44M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343926	NM_005061.3(RPL3L):c.131C>A (p.Thr44Lys)	RPL3L (T44K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156083	NM_005061.3(RPL3L):c.100C>T (p.Arg34Trp)	RPL3L (R34W)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2282834	NM_005061.3(RPL3L):c.92C>T (p.Thr31Met)	RPL3L (T31M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1162252	NM_005061.3(RPL3L):c.80G>A (p.Gly27Asp)	RPL3L (G27D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2347819	NM_005061.3(RPL3L):c.76C>T (p.Arg26Trp)	RPL3L (R26W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224133	NM_005061.3(RPL3L):c.70C>T (p.Arg24Trp)	RPL3L (R24W)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2220099	NM_005061.3(RPL3L):c.10C>T (p.Arg4Trp)	RPL3L (R4W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243525	NC_000016.9:g.(?_1822222)_(2550959_?)dup	ABCA3, BRICD5 +39 more	Duplication	Caused by mutation in the TBC1 domain family, member 24 +2 more	GUncertain significance
Select item 3243466	NC_000016.9:g.(?_1607916)_(2130398_?)dup	CRAMP1, EME2 +27 more	Duplication	Tuberous sclerosis 2	GUncertain significance
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 more	GUncertain significance

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