"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "GAN"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2683377	NM_022041.4(GAN):c.103G>A (p.Val35Ile)	GAN, LOC130059498 (V35I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 426643	NM_022041.4(GAN):c.355A>T (p.Thr119Ser)	GAN (T119S)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1 +2 more	GConflicting classifications of pathogenicity
Select item 656612	NM_022041.4(GAN):c.500C>T (p.Thr167Met)	GAN (T167M)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 888319	NM_022041.4(GAN):c.725G>A (p.Arg242Gln)	GAN (R242Q +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1 +1 more	GUncertain significance
Select item 533936	NM_022041.4(GAN):c.1148A>T (p.Asp383Val)	GAN (D383V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 465386	NM_022041.4(GAN):c.1165A>T (p.Ile389Phe)	GAN (I389F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 566391	NM_022041.4(GAN):c.1199C>G (p.Thr400Ser)	GAN (T400S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 579624	NM_022041.4(GAN):c.1327C>G (p.Pro443Ala)	GAN (P443A +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1 +2 more	GUncertain significance
Select item 3380402	NM_022041.4(GAN):c.1436G>T (p.Arg479Leu)	GAN (R266L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 533926	NM_022041.4(GAN):c.1511A>G (p.Tyr504Cys)	GAN (Y504C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance