"Eurofins Ntd Llc (ga)"[submitter] AND "CLN5"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 193341	NM_006493.3(CLN5):c.-126G>T (p.Gly8Trp)	CLN5	Single nucleotide 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 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 193343	NM_006493.2(CLN5):c.77C>A (p.Ala26Glu)	CLN5	Single nucleotide variant (missense variant)	not provided +1 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 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 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 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 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 128781	NM_006493.4(CLN5):c.173+8C>T	CLN5, LOC130009913	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis +4 more	GBenign
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 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 288533	NM_006493.4(CLN5):c.342A>G (p.Lys114=)	CLN5	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 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 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 95399	NM_006493.4(CLN5):c.761C>T (p.Thr254Ile)	CLN5 (T254I)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 594572	NM_006493.4(CLN5):c.765C>G (p.Asn255Lys)	CLN5 (N255K)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 197280	NM_006493.4(CLN5):c.775A>T (p.Ile259Leu)	CLN5 (I259L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 56547	NM_006493.4(CLN5):c.808_823del (p.Gly270fs)	CLN5 (G270fs)	Deletion (3 prime UTR variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 56526	NM_006493.4(CLN5):c.924_925del (p.Leu309fs)	CLN5 (L309fs)	Microsatellite (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5 +2 more	GPathogenic
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

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Items: 26