"Natera, Inc."[submitter] AND "CLN5"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 166884	NM_006493.4(CLN5):c.-146T>C	CLN5	Single nucleotide variant	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 128782	NM_006493.4(CLN5):c.-144C>T	CLN5	Single nucleotide variant	not specified +5 more	GBenign
Select item 205135	NM_006493.4(CLN5):c.-141C>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis 5 +2 more	GUncertain significance
Select item 573164	NM_006493.4(CLN5):c.-123C>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 577247	NM_006493.4(CLN5):c.-113G>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 729806	NM_006493.4(CLN5):c.-109T>A	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 703743	NM_006493.4(CLN5):c.-103G>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 813489	NM_006493.4(CLN5):c.-97del	CLN5	Deletion	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 964504	NM_006493.4(CLN5):c.-99G>A	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 205123	NM_006493.4(CLN5):c.-99G>C	CLN5	Single nucleotide variant	not specified +5 more	GConflicting classifications of pathogenicity
Select item 991763	NM_006493.4(CLN5):c.-98G>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis 5	GUncertain significance
Select item 962497	NM_006493.4(CLN5):c.-96C>G	CLN5	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 835320	NM_006493.4(CLN5):c.-94A>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 193342	NM_006493.4(CLN5):c.-87C>T	CLN5	Single nucleotide variant	not provided +5 more	GBenign/Likely benign
Select item 1059382	NM_006493.4(CLN5):c.-86C>G	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 457965	NM_006493.4(CLN5):c.-86C>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 643424	NM_006493.4(CLN5):c.-84C>A	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 409276	NM_006493.4(CLN5):c.-83G>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 643425	NM_006493.4(CLN5):c.-78G>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 95398	NM_006493.4(CLN5):c.-76A>G	CLN5	Single nucleotide variant	not specified +5 more	GBenign/Likely benign
Select item 949633	NM_006493.4(CLN5):c.-75C>G	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 527732	NM_006493.4(CLN5):c.-74T>C	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 409277	NM_006493.4(CLN5):c.-47C>G	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1038293	NM_006493.4(CLN5):c.-23C>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 205139	NM_006493.4(CLN5):c.-21G>A	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis +3 more	GUncertain significance
Select item 205140	NM_006493.4(CLN5):c.-14C>T	CLN5	Single nucleotide variant (5 prime UTR variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 942106	NM_006493.4(CLN5):c.-11G>C	CLN5	Single nucleotide variant (5 prime UTR variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 136793	NM_006493.4(CLN5):c.-4C>T	CLN5	Single nucleotide variant (5 prime UTR variant)	Neuronal ceroid lipofuscinosis +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)	Inborn genetic diseases +2 more	GUncertain significance
Select item 205125	NM_006493.4(CLN5):c.5C>T (p.Ala2Val)	CLN5 (A2V)	Single nucleotide variant (missense variant)	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +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)	not provided +2 more	GUncertain significance
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 1159153	NM_006493.4(CLN5):c.33C>G (p.Ala11=)	CLN5, LOC130009913	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	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 5 +4 more	GConflicting classifications of pathogenicity
Select item 1135999	NM_006493.4(CLN5):c.63G>C (p.Arg21=)	CLN5, LOC130009913	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
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)	not specified +5 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)	not provided +1 more	GUncertain significance
Select item 967064	NM_006493.4(CLN5):c.78G>T (p.Trp26Cys)	LOC130009913, CLN5 (W26C)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2565	NM_006493.4(CLN5):c.78G>A (p.Trp26Ter)	CLN5, LOC130009913 (W26*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic
Select item 205128	NM_006493.4(CLN5):c.80G>A (p.Cys27Tyr)	CLN5, LOC130009913 (C27Y)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +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 5 +4 more	GBenign/Likely benign
Select item 991765	NM_006493.4(CLN5):c.89T>C (p.Leu30Pro)	CLN5, LOC130009913 (L30P)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 5	GUncertain significance
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 451977	NM_006493.4(CLN5):c.136G>T (p.Gly46Cys)	CLN5, LOC130009913 (G46C)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 5 +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 970842	NM_006493.4(CLN5):c.148C>T (p.Arg50Trp)	CLN5, LOC130009913 (R50W)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1010863	NM_006493.4(CLN5):c.151C>A (p.Arg51Ser)	LOC130009913, CLN5 (R51S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 285012	NM_006493.4(CLN5):c.152G>A (p.Arg51His)	CLN5, LOC130009913 (R51H)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +3 more	GUncertain significance
Select item 966609	NM_006493.4(CLN5):c.162G>A (p.Pro54=)	CLN5, LOC130009913	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 128781	NM_006493.4(CLN5):c.173+8C>T	CLN5, LOC130009913	Single nucleotide variant (intron variant)	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +3 more	GBenign
Select item 451777	NM_006493.4(CLN5):c.175C>T (p.Arg59Cys)	CLN5 (R59C)	Single nucleotide variant (missense variant)	not provided +2 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 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 1025949	NM_006493.4(CLN5):c.247A>G (p.Ile83Val)	CLN5 (I83V)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
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 1045978	NM_006493.4(CLN5):c.270T>A (p.Asp90Glu)	CLN5 (D90E)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1216165	NM_006493.4(CLN5):c.287G>A (p.Arg96Gln)	CLN5 (R96Q)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GUncertain significance
Select item 854910	NM_006493.4(CLN5):c.296C>T (p.Ala99Val)	CLN5 (A99V)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 969415	NM_006493.4(CLN5):c.323A>C (p.Asp108Ala)	CLN5 (D108A)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 56535	NM_006493.4(CLN5):c.339+5G>C	CLN5	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 409278	NM_006493.4(CLN5):c.339+6G>A	CLN5	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 966545	NM_006493.4(CLN5):c.358A>G (p.Ile120Val)	CLN5 (I120V)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 205143	NM_006493.4(CLN5):c.371G>A (p.Ser124Asn)	CLN5 (S124N)	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 +4 more	GBenign/Likely benign
Select item 634488	NM_006493.4(CLN5):c.398T>G (p.Met133Arg)	CLN5 (M133R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 5 +1 more	GUncertain significance
Select item 196438	NM_006493.4(CLN5):c.415T>C (p.Phe139Leu)	CLN5 (F139L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 934097	NM_006493.4(CLN5):c.420A>G (p.Gln140=)	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 5 +1 more	GConflicting classifications of pathogenicity
Select item 373760	NM_006493.4(CLN5):c.424G>C (p.Gly142Arg)	CLN5 (G142R)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 661954	NM_006493.4(CLN5):c.430T>C (p.Cys144Arg)	CLN5 (C144R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 745192	NM_006493.4(CLN5):c.435A>G (p.Thr145=)	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 970155	NM_006493.4(CLN5):c.442C>T (p.His148Tyr)	CLN5 (H148Y)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 56540	NM_006493.4(CLN5):c.446T>C (p.Leu149Pro)	CLN5 (L149P)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 205144	NM_006493.4(CLN5):c.448C>T (p.Arg150Ter)	CLN5 (R150*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 205145	NM_006493.4(CLN5):c.459G>A (p.Met153Ile)	CLN5 (M153I)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 938187	NM_006493.4(CLN5):c.467C>T (p.Pro156Leu)	CLN5 (P156L)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 580614	NM_006493.4(CLN5):c.486C>T (p.Gly162=)	CLN5	Single nucleotide variant (synonymous variant)	CLN5-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 205137	NM_006493.4(CLN5):c.487G>A (p.Ala163Thr)	CLN5 (A163T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 566238	NM_006493.4(CLN5):c.490G>T (p.Ala164Ser)	CLN5 (A164S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 527752	NM_006493.4(CLN5):c.500T>C (p.Phe167Ser)	CLN5 (F167S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 56543	NM_006493.4(CLN5):c.522dup (p.Trp175fs)	CLN5 (W175fs)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic/Likely pathogenic
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)	Neuronal ceroid lipofuscinosis 5 +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 457967	NM_006493.4(CLN5):c.565+3_565+4dup	CLN5	Duplication (intron variant)	Inborn genetic diseases +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)	Neuronal ceroid lipofuscinosis +3 more	GConflicting classifications of pathogenicity
Select item 883229	NM_006493.4(CLN5):c.572T>C (p.Met191Thr)	CLN5 (M191T)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
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 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 409274	NM_006493.4(CLN5):c.656A>C (p.Glu219Ala)	CLN5 (E219A)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5 +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)	not provided +3 more	GUncertain significance
Select item 457968	NM_006493.4(CLN5):c.704T>C (p.Val235Ala)	CLN5 (V235A)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 937663	NM_006493.4(CLN5):c.755T>C (p.Ile252Thr)	CLN5 (I252T)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1006797	NM_006493.4(CLN5):c.757G>C (p.Glu253Gln)	CLN5 (E253Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 991766	NM_006493.4(CLN5):c.764A>C (p.Asn255Thr)	CLN5 (N255T)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 423209	NM_006493.4(CLN5):c.773G>A (p.Arg258Lys)	CLN5 (R258K)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 56547	NM_006493.4(CLN5):c.808_823del (p.Gly270fs)	CLN5 (G270fs)	Deletion (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis +2 more	GPathogenic/Likely pathogenic
Select item 240660	NM_006493.4(CLN5):c.812A>G (p.Asn271Ser)	CLN5 (N271S)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis +2 more	GUncertain significance
Select item 422251	NM_006493.4(CLN5):c.869G>T (p.Arg290Ile)	CLN5 (R290I)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis +2 more	GUncertain significance
Select item 205132	NM_006493.4(CLN5):c.885C>G (p.Phe295Leu)	CLN5 (F295L)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance

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