"GeneDx"[submitter] AND "CLN5"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 670727	NM_006493.2(CLN5):c.-115A>G	CLN5	Single nucleotide variant	not provided	GBenign
Select item 383692	NM_006493.2(CLN5):c.-11G>C	CLN5	Single nucleotide variant	not specified	GLikely benign
Select item 515683	NM_006493.2(CLN5):c.-8G>A	CLN5	Single nucleotide variant	not specified +1 more	GConflicting classifications of pathogenicity
Select item 205134	NC_000013.11:g.76991953T>A	CLN5	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GConflicting classifications of pathogenicity
Select item 166884	NM_006493.4(CLN5):c.-146T>C	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis 5 +4 more	GConflicting classifications of pathogenicity
Select item 128782	NM_006493.4(CLN5):c.-144C>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis +5 more	GBenign
Select item 205121	NM_006493.2(CLN5):c.5G>C (p.Arg2Pro)	CLN5	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 205135	NM_006493.4(CLN5):c.-141C>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis 5 +2 more	GUncertain significance
Select item 1304983	NM_006493.2(CLN5):c.14T>C (p.Leu5Pro)	CLN5 (L5P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 205122	NC_000013.11:g.76991973G>C	CLN5	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 515004	NC_000013.11:g.76991975G>A	CLN5	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1391726	NC_000013.11:g.76991993C>G	CLN5 (D14E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 205123	NM_006493.4(CLN5):c.-99G>C	CLN5	Single nucleotide variant	not provided +5 more	GConflicting classifications of pathogenicity
Select item 420530	NM_006493.2(CLN5):c.50G>C (p.Gly17Ala)	CLN5	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 962497	NM_006493.4(CLN5):c.-96C>G	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 421520	NM_006493.4(CLN5):c.-96C>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis 5 +2 more	GUncertain significance
Select item 205136	NC_000013.11:g.76992003C>A	CLN5	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +3 more	GUncertain significance
Select item 377689	NC_000013.11:g.76992005A>G	CLN5	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 387082	NC_000013.11:g.76992008C>A	CLN5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 193342	NM_006493.4(CLN5):c.-87C>T	CLN5	Single nucleotide variant	not provided +4 more	GBenign/Likely benign
Select item 95398	NM_006493.4(CLN5):c.-76A>G	CLN5	Single nucleotide variant	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +5 more	GBenign/Likely benign
Select item 205138	NC_000013.11:g.76992067C>A	CLN5	Single nucleotide variant (nonsense)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 205124	NC_000013.11:g.76992067C>G	CLN5	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GConflicting classifications of pathogenicity
Select item 508189	NC_000013.11:g.76992068G>C	CLN5	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 205139	NM_006493.4(CLN5):c.-21G>A	CLN5	Single nucleotide variant	Inborn genetic diseases +3 more	GUncertain significance
Select item 136793	NM_006493.4(CLN5):c.-4C>T	CLN5	Single nucleotide variant (5 prime UTR variant)	Neuronal ceroid lipofuscinosis 5 +5 more	GConflicting classifications of pathogenicity
Select item 1208541	NM_006493.4(CLN5):c.1A>T (p.Met1Leu)	CLN5 (M1L)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis +2 more	GUncertain significance
Select item 205125	NM_006493.4(CLN5):c.5C>T (p.Ala2Val)	CLN5 (A2V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 422252	NM_006493.4(CLN5):c.13G>A (p.Val5Ile)	CLN5 (V5I)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GUncertain significance
Select item 506696	NM_006493.4(CLN5):c.21G>T (p.Thr7=)	CLN5	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 385511	NM_006493.4(CLN5):c.21G>A (p.Thr7=)	CLN5	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 382119	NM_006493.4(CLN5):c.21G>C (p.Thr7=)	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely benign
Select item 421564	NM_006493.4(CLN5):c.31G>T (p.Ala11Ser)	CLN5, LOC130009913 (A11S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1314411	NM_006493.4(CLN5):c.43C>T (p.Arg15Trp)	CLN5, LOC130009913 (R15W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 205126	NM_006493.4(CLN5):c.47GCGCGG[3] (p.16GA[3])	CLN5, LOC130009913	Microsatellite (inframe_insertion)	Neuronal ceroid lipofuscinosis 5 +2 more	GConflicting classifications of pathogenicity
Select item 205141	NM_006493.4(CLN5):c.61C>T (p.Arg21Trp)	CLN5, LOC130009913 (R21W)	Single nucleotide variant (missense variant)	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +4 more	GConflicting classifications of pathogenicity
Select item 426952	NM_006493.4(CLN5):c.74C>T (p.Ser25Phe)	CLN5, LOC130009913 (S25F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 205127	NM_006493.4(CLN5):c.76T>C (p.Trp26Arg)	CLN5, LOC130009913 (W26R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 991764	NM_006493.4(CLN5):c.77G>C (p.Trp26Ser)	CLN5, LOC130009913 (W26S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 205128	NM_006493.4(CLN5):c.80G>A (p.Cys27Tyr)	CLN5, LOC130009913 (C27Y)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 5 +3 more	GUncertain significance
Select item 451600	NM_006493.4(CLN5):c.84G>A (p.Trp28Ter)	CLN5, LOC130009913 (W28*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 5 +2 more	GPathogenic/Likely pathogenic
Select item 95396	NM_006493.4(CLN5):c.87C>G (p.Ala29=)	CLN5, LOC130009913	Single nucleotide variant (synonymous variant)	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +5 more	GBenign/Likely benign
Select item 1704063	NM_006493.4(CLN5):c.103C>T (p.Leu35Phe)	CLN5, LOC130009913 (L35F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 205142	NM_006493.4(CLN5):c.106G>C (p.Ala36Pro)	CLN5, LOC130009913 (A36P)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 506699	NM_006493.4(CLN5):c.120C>T (p.Gly40=)	CLN5, LOC130009913	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 508786	NM_006493.4(CLN5):c.129G>A (p.Arg43=)	CLN5, LOC130009913	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 451977	NM_006493.4(CLN5):c.136G>T (p.Gly46Cys)	CLN5, LOC130009913 (G46C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 429507	NM_006493.4(CLN5):c.142C>A (p.Pro48Thr)	CLN5, LOC130009913 (P48T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 285012	NM_006493.4(CLN5):c.152G>A (p.Arg51His)	CLN5, LOC130009913 (R51H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2505790	NM_006493.4(CLN5):c.172A>T (p.Lys58Ter)	CLN5, LOC130009913 (K107* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 128781	NM_006493.4(CLN5):c.173+8C>T	CLN5, LOC130009913	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis +4 more	GBenign
Select item 379068	NM_006493.4(CLN5):c.173+9G>T	CLN5, LOC130009913	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely benign
Select item 1565763	NM_006493.4(CLN5):c.173+13GC[6]	CLN5, LOC130009913	Microsatellite (intron variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely benign
Select item 509850	NM_006493.4(CLN5):c.173+12G>T	CLN5, LOC130009913	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely benign
Select item 377690	NM_006493.4(CLN5):c.173+14C>T	CLN5, LOC130009913	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 381120	NM_006493.4(CLN5):c.173+16C>A	CLN5, LOC130009913	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely benign
Select item 95397	NM_006493.4(CLN5):c.173+18C>T	CLN5, LOC130009913	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis +2 more	GBenign
Select item 679914	NM_006493.4(CLN5):c.173+166G>A	CLN5, LOC126861804	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198179	NM_006493.4(CLN5):c.173+198G>T	CLN5, LOC126861804	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293297	NM_006493.4(CLN5):c.173+213G>A	CLN5, LOC126861804	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226317	NM_006493.4(CLN5):c.173+238C>T	CLN5, LOC126861804	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207584	NM_006493.4(CLN5):c.174-284C>A	CLN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 451777	NM_006493.4(CLN5):c.175C>T (p.Arg59Cys)	CLN5 (R59C)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 5 +2 more	GUncertain significance
Select item 2567	NM_006493.4(CLN5):c.188G>A (p.Arg63His)	CLN5 (R63H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 205129	NM_006493.4(CLN5):c.265G>A (p.Asp89Asn)	CLN5 (D89N)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1216165	NM_006493.4(CLN5):c.287G>A (p.Arg96Gln)	CLN5 (R96Q)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 5 +2 more	GUncertain significance
Select item 507004	NM_006493.4(CLN5):c.339+11A>G	CLN5	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 668819	NM_006493.4(CLN5):c.339+309T>C	CLN5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191137	NM_006493.4(CLN5):c.340-248T>C	CLN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253313	NM_006493.4(CLN5):c.340-185C>G	CLN5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221740	NM_006493.4(CLN5):c.340-136G>A	CLN5	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 205143	NM_006493.4(CLN5):c.371G>A (p.Ser124Asn)	CLN5 (S124N)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 5 +3 more	GUncertain significance
Select item 128783	NM_006493.4(CLN5):c.381T>G (p.Thr127=)	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +5 more	GBenign/Likely benign
Select item 196438	NM_006493.4(CLN5):c.415T>C (p.Phe139Leu)	CLN5 (F139L)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 5 +2 more	GUncertain significance
Select item 1307600	NM_006493.4(CLN5):c.416T>C (p.Phe139Ser)	CLN5 (F139S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 377691	NM_006493.4(CLN5):c.417C>T (p.Phe139=)	CLN5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 373760	NM_006493.4(CLN5):c.424G>C (p.Gly142Arg)	CLN5 (G142R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GConflicting classifications of pathogenicity
Select item 56539	NM_006493.4(CLN5):c.428A>G (p.Asn143Ser)	CLN5 (N143S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 5 +2 more	GPathogenic/Likely pathogenic
Select item 205144	NM_006493.4(CLN5):c.448C>T (p.Arg150Ter)	CLN5 (R150*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis +2 more	GPathogenic
Select item 205145	NM_006493.4(CLN5):c.459G>A (p.Met153Ile)	CLN5 (M153I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1302670	NM_006493.4(CLN5):c.472T>C (p.Trp158Arg)	CLN5 (W158R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 205137	NM_006493.4(CLN5):c.487G>A (p.Ala163Thr)	CLN5 (A163T)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GConflicting classifications of pathogenicity
Select item 128784	NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer)	CLN5	Deletion (nonsense)	Neuronal ceroid lipofuscinosis +3 more	GPathogenic/Likely pathogenic
Select item 56544	NM_006493.4(CLN5):c.524G>A (p.Trp175Ter)	CLN5 (W175*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 5 +2 more	GPathogenic/Likely pathogenic
Select item 205146	NM_006493.4(CLN5):c.526A>G (p.Lys176Glu)	CLN5 (K176E)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 421961	NM_006493.4(CLN5):c.544G>A (p.Val182Ile)	CLN5 (V182I)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 1703311	NM_006493.4(CLN5):c.559A>G (p.Ile187Val)	CLN5 (I187V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 457967	NM_006493.4(CLN5):c.565+3_565+4dup	CLN5	Duplication (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 668383	NM_006493.4(CLN5):c.565+15T>G	CLN5	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 383259	NM_006493.4(CLN5):c.565+20C>T	CLN5	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely benign
Select item 381385	NM_006493.4(CLN5):c.565+20C>G	CLN5	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 670631	NM_006493.4(CLN5):c.565+90T>A	CLN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669823	NM_006493.4(CLN5):c.565+262C>A	CLN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233962	NM_006493.4(CLN5):c.566-321A>C	CLN5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677614	NM_006493.4(CLN5):c.566-147G>A	CLN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1240619	NM_006493.4(CLN5):c.566-97G>A	CLN5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297190	NM_006493.4(CLN5):c.566-55dup	CLN5	Duplication (intron variant)	not provided	GBenign
Select item 1197270	NM_006493.4(CLN5):c.566-56_566-55dup	CLN5	Duplication (intron variant)	not provided	GLikely benign
Select item 1281416	NM_006493.4(CLN5):c.566-55del	CLN5	Deletion (intron variant)	not provided	GBenign
Select item 421137	NM_006493.4(CLN5):c.566-8dup	CLN5	Duplication (intron variant)	not specified +1 more	GBenign/Likely benign

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