C1850442[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 515683	NM_006493.2(CLN5):c.-8G>A	CLN5	Single nucleotide variant	not specified +1 more	GConflicting classifications of pathogenicity
Select item 166884	NM_006493.4(CLN5):c.-146T>C	CLN5	Single nucleotide variant	CLN5-related condition +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 205122	NM_006493.2(CLN5):c.22G>C (p.Gly8Arg)	CLN5	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 205123	NM_006493.4(CLN5):c.-99G>C	CLN5	Single nucleotide variant	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 95398	NM_006493.4(CLN5):c.-76A>G	CLN5	Single nucleotide variant	not specified +5 more	GBenign/Likely benign
Select item 205139	NM_006493.4(CLN5):c.-21G>A	CLN5	Single nucleotide variant	not provided +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	GUncertain significance
Select item 136793	NM_006493.4(CLN5):c.-4C>T	CLN5	Single nucleotide variant (5 prime UTR variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 205125	NM_006493.4(CLN5):c.5C>T (p.Ala2Val)	CLN5 (A2V)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +4 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)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 205127	NM_006493.4(CLN5):c.76T>C (p.Trp26Arg)	CLN5, LOC130009913 (W26R)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
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 883228	NM_006493.4(CLN5):c.133T>C (p.Ser45Pro)	CLN5, LOC130009913 (S45P)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 5	GUncertain significance
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 128783	NM_006493.4(CLN5):c.381T>G (p.Thr127=)	CLN5	Single nucleotide variant (synonymous variant)	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +4 more	GBenign/Likely 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 312427	NM_006493.4(CLN5):c.566-7A>G	CLN5	Single nucleotide variant (intron variant)	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)	not specified +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 884023	NM_006493.4(CLN5):c.773G>T (p.Arg258Ile)	CLN5 (R258I)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 884024	NM_006493.4(CLN5):c.806T>G (p.Leu269Arg)	CLN5 (L269R)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5	GUncertain significance
Select item 240660	NM_006493.4(CLN5):c.812A>G (p.Asn271Ser)	CLN5 (N271S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 884025	NM_006493.4(CLN5):c.864A>G (p.Ile288Met)	CLN5 (I288M)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5	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, Dominant/Recessive +5 more	GBenign/Likely benign
Select item 205133	NM_006493.4(CLN5):c.1019A>C (p.Lys340Thr)	CLN5 (K340T)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +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)	Inborn genetic diseases +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)	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +4 more	GBenign/Likely benign
Select item 128780	NM_006493.4(CLN5):c.1045C>T (p.Pro349Ser)	CLN5 (P349S)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +3 more	GUncertain significance
Select item 312429	NM_006493.4(CLN5):c.*33A>G	CLN5	Single nucleotide variant (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +2 more	GBenign/Likely benign
Select item 312430	NM_006493.4(CLN5):c.*155C>T	CLN5	Single nucleotide variant (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +2 more	GBenign/Likely benign
Select item 312431	NM_006493.4(CLN5):c.*158C>G	CLN5	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 880732	NM_006493.4(CLN5):c.*163G>A	CLN5	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 5	GUncertain significance
Select item 312432	NM_006493.4(CLN5):c.*177A>C	CLN5	Single nucleotide variant (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +1 more	GUncertain significance
Select item 312433	NM_006493.4(CLN5):c.*180C>T	CLN5	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 882130	NM_006493.4(CLN5):c.*263A>T	CLN5	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 5	GUncertain significance
Select item 882131	NM_006493.4(CLN5):c.*269G>A	CLN5	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 5 +1 more	GLikely benign
Select item 312434	NM_006493.4(CLN5):c.*292G>A	CLN5	Single nucleotide variant (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +2 more	GBenign/Likely benign
Select item 312435	NM_006493.4(CLN5):c.*310T>C	CLN5	Single nucleotide variant (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +1 more	GConflicting classifications of pathogenicity
Select item 882132	NM_006493.4(CLN5):c.*468G>C	CLN5	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 5	GUncertain significance
Select item 882133	NM_006493.4(CLN5):c.*609A>G	CLN5	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 5	GUncertain significance
Select item 882134	NM_006493.4(CLN5):c.*614C>T	CLN5	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 5	GUncertain significance
Select item 882135	NM_006493.4(CLN5):c.*636A>G	CLN5	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 5	GUncertain significance
Select item 312436	NM_006493.4(CLN5):c.*721G>A	CLN5	Single nucleotide variant (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +1 more	GUncertain significance
Select item 883278	NM_006493.4(CLN5):c.*833C>T	CLN5	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 5	GUncertain significance
Select item 312438	NM_006493.4(CLN5):c.*954T>C	CLN5	Single nucleotide variant (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +1 more	GUncertain significance
Select item 883279	NM_006493.4(CLN5):c.*963T>G	CLN5	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 5	GUncertain significance
Select item 883280	NM_006493.4(CLN5):c.*975G>A	CLN5	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 5	GUncertain significance
Select item 312439	NM_006493.4(CLN5):c.*1132A>G	CLN5	Single nucleotide variant (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +1 more	GBenign/Likely benign
Select item 883281	NM_006493.4(CLN5):c.*1159G>A	CLN5	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 5	GBenign
Select item 312440	NM_006493.4(CLN5):c.*1169T>C	CLN5	Single nucleotide variant (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +1 more	GUncertain significance
Select item 312441	NM_006493.4(CLN5):c.*1279G>C	CLN5	Single nucleotide variant (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +1 more	GBenign/Likely benign
Select item 884084	NM_006493.4(CLN5):c.*1490A>G	CLN5	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 5	GUncertain significance

ClinVar

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Items: 54