Related gene-specific medical variations for Gene (Select 11183) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2969844	NM_015915.5(ATL1):c.34+16G>T	ATL1, MAP4K5	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 2969762	NM_015915.5(ATL1):c.26A>G (p.Asn9Ser)	ATL1, MAP4K5 (N9S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 2903710	NM_015915.5(ATL1):c.34+6T>G	ATL1, MAP4K5	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 2094997	NM_015915.5(ATL1):c.22A>C (p.Arg8=)	ATL1, MAP4K5	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 2009060	NM_015915.5(ATL1):c.34+3G>C	ATL1, MAP4K5	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 1962471	NM_015915.5(ATL1):c.34+16G>C	ATL1, MAP4K5	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 1663913	NM_015915.5(ATL1):c.34+10A>G	ATL1, MAP4K5	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 1416672	NM_015915.5(ATL1):c.33G>C (p.Trp11Cys)	ATL1, MAP4K5 (W11C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1308072	NM_015915.5(ATL1):c.19G>A (p.Asp7Asn)	ATL1, MAP4K5 (D7N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1268055	NM_015915.5(ATL1):c.34+110G>C	ATL1, MAP4K5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262528	NM_001127713.1(ATL1):c.-140+108C>T	ATL1, MAP4K5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190758	NM_015915.5(ATL1):c.34+109del	ATL1, MAP4K5	Deletion (intron variant)	not provided	GLikely benign
Select item 964756	NM_015915.5(ATL1):c.34+4A>G	ATL1, MAP4K5	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 678057	NM_001127713.1(ATL1):c.-140+60G>A	ATL1, MAP4K5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678056	NM_001127713.1(ATL1):c.-140+55A>T	ATL1, MAP4K5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 538580	NM_015915.5(ATL1):c.27C>G (p.Asn9Lys)	ATL1, MAP4K5 (N9K)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A +1 more	GConflicting classifications of pathogenicity
Select item 513999	NM_015915.5(ATL1):c.34+16G>A	ATL1, MAP4K5	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A +1 more	GLikely benign
Select item 471249	NM_015915.5(ATL1):c.30T>C (p.Ser10=)	ATL1, MAP4K5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 313292	NM_001127713.1(ATL1):c.-139-16C>G	ATL1, MAP4K5	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A	GUncertain significance