"Ambry Genetics"[submitter] AND "LOC130059498"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 320649	NM_022041.4(GAN):c.46C>T (p.Leu16=)	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1991576	NM_022041.4(GAN):c.53G>A (p.Arg18Gln)	GAN, LOC130059498 (R18Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1750972	NM_022041.4(GAN):c.59T>G (p.Leu20Arg)	GAN, LOC130059498 (L20R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 320651	NM_022041.4(GAN):c.75G>A (p.Glu25=)	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1 +1 more	GConflicting classifications of pathogenicity
Select item 1474016	NM_022041.4(GAN):c.80C>G (p.Ser27Cys)	GAN, LOC130059498 (S27C)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1 +1 more	GUncertain significance
Select item 1766176	NM_022041.4(GAN):c.91G>C (p.Asp31His)	GAN, LOC130059498 (D31H)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1 +1 more	GUncertain significance
Select item 320652	NM_022041.4(GAN):c.132G>A (p.Gln44=)	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3098277	NM_022041.4(GAN):c.134A>T (p.Lys45Met)	GAN, LOC130059498 (K45M)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 389206	NM_022041.4(GAN):c.159G>T (p.Pro53=)	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1 +2 more	GBenign/Likely benign