"Ambry Genetics"[submitter] AND "CLN5"[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 554902	NC_000013.11:g.76991952A>C	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 1501450	NC_000013.11:g.76991961A>T	CLN5 (N4Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 813489	NM_006493.4(CLN5):c.-97del	CLN5	Deletion	Neuronal ceroid lipofuscinosis 5 +3 more	GConflicting classifications of pathogenicity
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 205136	NC_000013.11:g.76992003C>A	CLN5	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +3 more	GUncertain significance
Select item 193342	NM_006493.4(CLN5):c.-87C>T	CLN5	Single nucleotide variant	not provided +4 more	GBenign/Likely benign
Select item 643424	NM_006493.4(CLN5):c.-84C>A	CLN5	Single nucleotide variant	Inborn genetic diseases +1 more	GUncertain significance
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 193343	NM_006493.2(CLN5):c.77C>A (p.Ala26Glu)	CLN5	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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 882077	NM_006493.4(CLN5):c.-8G>A	CLN5	Single nucleotide variant (5 prime UTR variant)	Neuronal ceroid lipofuscinosis 5 +1 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 1145429	NM_006493.4(CLN5):c.24A>G (p.Ala8=)	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely benign
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 1134135	NM_006493.4(CLN5):c.69C>G (p.Arg23=)	CLN5, LOC130009913	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely benign
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 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 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 943260	NM_006493.4(CLN5):c.92C>A (p.Ala31Glu)	CLN5, LOC130009913 (A31E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 588297	NM_006493.4(CLN5):c.93G>A (p.Ala31=)	CLN5, LOC130009913	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
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 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 1010863	NM_006493.4(CLN5):c.151C>A (p.Arg51Ser)	CLN5, LOC130009913 (R51S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 643941	NM_006493.4(CLN5):c.176G>A (p.Arg59His)	CLN5 (R59H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 190222	NM_006493.4(CLN5):c.187C>T (p.Arg63Cys)	CLN5 (R63C)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GConflicting classifications of pathogenicity
Select item 698623	NM_006493.4(CLN5):c.207T>C (p.Tyr69=)	CLN5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
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 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 2493254	NM_006493.4(CLN5):c.389A>G (p.Asn130Ser)	CLN5 (N130S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1750658	NM_006493.4(CLN5):c.447C>G (p.Leu149=)	CLN5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 2416125	NM_006493.4(CLN5):c.460G>C (p.Asp154His)	CLN5 (D154H +1 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 2240702	NM_006493.4(CLN5):c.497T>C (p.Phe166Ser)	CLN5 (F166S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 457967	NM_006493.4(CLN5):c.565+3_565+4dup	CLN5	Duplication (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 205147	NM_006493.4(CLN5):c.569A>G (p.Asn190Ser)	CLN5 (N190S)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 136794	NM_006493.4(CLN5):c.579C>A (p.Asn193Lys)	CLN5 (N193K)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis +4 more	GConflicting classifications of pathogenicity
Select item 590111	NM_006493.4(CLN5):c.596T>C (p.Val199Ala)	CLN5 (V199A)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 703734	NM_006493.4(CLN5):c.627T>C (p.Tyr209=)	CLN5	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis +1 more	GLikely benign
Select item 569776	NM_006493.4(CLN5):c.639T>A (p.Asn213Lys)	CLN5 (N213K)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 312428	NM_006493.4(CLN5):c.642A>T (p.Val214=)	CLN5	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +4 more	GConflicting classifications of pathogenicity
Select item 527764	NM_006493.4(CLN5):c.654A>C (p.Pro218=)	CLN5	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 409274	NM_006493.4(CLN5):c.656A>C (p.Glu219Ala)	CLN5 (E219A)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GUncertain significance
Select item 205130	NM_006493.4(CLN5):c.662G>A (p.Gly221Glu)	CLN5 (G221E)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5 +3 more	GUncertain significance
Select item 377692	NM_006493.4(CLN5):c.687C>T (p.Tyr229=)	CLN5	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +3 more	GLikely benign
Select item 136792	NM_006493.4(CLN5):c.705G>A (p.Val235=)	CLN5	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis +3 more	GBenign/Likely benign
Select item 3267814	NM_006493.4(CLN5):c.731A>C (p.Glu244Ala)	CLN5 (E293A +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 189038	NM_006493.4(CLN5):c.777_778del (p.Phe260fs)	CLN5 (F260fs)	Microsatellite (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis +3 more	GPathogenic/Likely pathogenic
Select item 2526895	NM_006493.4(CLN5):c.778T>C (p.Phe260Leu)	CLN5 (F309L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484048	NM_006493.4(CLN5):c.854G>A (p.Gly285Asp)	CLN5 (G285D +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 409275	NM_006493.4(CLN5):c.904A>G (p.Lys302Glu)	CLN5 (K302E)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5 +3 more	GUncertain significance
Select item 580580	NM_006493.4(CLN5):c.935T>C (p.Phe312Ser)	CLN5 (F312S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GUncertain significance
Select item 128778	NM_006493.4(CLN5):c.956A>G (p.Lys319Arg)	CLN5 (K319R)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis +5 more	GBenign/Likely benign
Select item 3267812	NM_006493.4(CLN5):c.965A>G (p.Tyr322Cys)	CLN5 (Y371C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 205133	NM_006493.4(CLN5):c.1019A>C (p.Lys340Thr)	CLN5 (K340T)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GUncertain significance
Select item 699262	NM_006493.4(CLN5):c.1026A>G (p.Thr342=)	CLN5	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5 +2 more	GConflicting classifications of pathogenicity
Select item 128779	NM_006493.4(CLN5):c.1041T>C (p.Pro347=)	CLN5	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +5 more	GBenign/Likely benign
Select item 2558880	NM_006493.4(CLN5):c.1044A>C (p.Leu348Phe)	CLN5 (L397F +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 662712	NM_006493.4(CLN5):c.1048A>G (p.Ile350Val)	CLN5 (I350V)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GUncertain significance
Select item 1746256	NM_006493.4(CLN5):c.1050C>G (p.Ile350Met)	CLN5 (I399M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 71