"Ambry Genetics"[submitter] AND "LOC130009913"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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