"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "GAN"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1675636	NM_022041.4(GAN):c.13A>C (p.Ser5Arg)	GAN, LOC130059498 (S5R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 320649	NM_022041.4(GAN):c.46C>T (p.Leu16=)	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant +1 more)	GAN-related condition +3 more	GBenign/Likely benign
Select item 1335221	NM_022041.4(GAN):c.302C>A (p.Thr101Lys)	GAN (T101K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1013103	NM_022041.4(GAN):c.334C>T (p.Leu112=)	GAN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 546775	NM_022041.4(GAN):c.445G>A (p.Val149Ile)	GAN (V149I)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1403425	NM_022041.4(GAN):c.490G>A (p.Val164Ile)	GAN (V164I)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1 +1 more	GUncertain significance
Select item 1641459	NM_022041.4(GAN):c.672A>G (p.Ser224=)	GAN	Single nucleotide variant (synonymous variant)	Giant axonal neuropathy 1 +1 more	GLikely benign
Select item 1335222	NM_022041.4(GAN):c.681C>G (p.Asp227Glu)	GAN (D14E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 157527	NM_022041.4(GAN):c.730A>G (p.Ile244Val)	GAN (I244V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2646894	NM_022041.4(GAN):c.906C>T (p.Asn302=)	GAN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 808114	NM_022041.4(GAN):c.998_1006del (p.Gly333_Asp335del)	GAN	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 698178	NM_022041.4(GAN):c.1323T>C (p.Tyr441=)	GAN	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1013104	NM_022041.4(GAN):c.1416G>A (p.Val472=)	GAN	Single nucleotide variant (synonymous variant)	Giant axonal neuropathy 1 +1 more	GLikely benign
Select item 265171	NM_022041.4(GAN):c.1445C>T (p.Ala482Val)	GAN (A482V +1 more)	Single nucleotide variant (missense variant)	GAN-related condition +3 more	GConflicting classifications of pathogenicity
Select item 2646895	NM_022041.4(GAN):c.1479G>A (p.Glu493=)	GAN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 320657	NM_022041.4(GAN):c.1518C>T (p.Asn506=)	GAN	Single nucleotide variant (synonymous variant)	Giant axonal neuropathy 1 +2 more	GConflicting classifications of pathogenicity
Select item 374635	NM_022041.4(GAN):c.1684C>G (p.Pro562Ala)	GAN (P562A +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1 +2 more	GBenign/Likely benign
Select item 320688	NM_022041.4(GAN):c.*1268C>T	GAN	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 320697	NM_022041.4(GAN):c.*1659del	GAN	Deletion (3 prime UTR variant)	Giant axonal neuropathy 1 +1 more	GConflicting classifications of pathogenicity