Related gene-specific medical variations for Gene (Select 388662) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3165415	NM_001010898.4(SLC6A17):c.208A>G (p.Ile70Val)	SLC6A17, SLC6A17-AS1 (I70V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3165411	NM_001010898.4(SLC6A17):c.175G>A (p.Asp59Asn)	SLC6A17, SLC6A17-AS1 (D59N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3064781	NM_001010898.4(SLC6A17):c.1129T>C (p.Tyr377His)	SLC6A17 (Y377H)	Single nucleotide variant (missense variant)	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	GUncertain significance
Select item 3062084	NM_001010898.4(SLC6A17):c.895C>T (p.Arg299Trp)	SLC6A17 (R299W)	Single nucleotide variant (missense variant)	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	GUncertain significance
Select item 2518688	NM_001010898.4(SLC6A17):c.221T>C (p.Ile74Thr)	SLC6A17, SLC6A17-AS1 (I74T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2463405	NM_001010898.4(SLC6A17):c.164T>C (p.Leu55Pro)	SLC6A17, SLC6A17-AS1 (L55P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1333112	NM_001010898.4(SLC6A17):c.169G>A (p.Ala57Thr)	SLC6A17, SLC6A17-AS1 (A57T)	Single nucleotide variant (missense variant)	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome +1 more	GBenign
Select item 1333111	NM_001010898.4(SLC6A17):c.168T>C (p.Asp56=)	SLC6A17, SLC6A17-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1034371	NM_001010898.4(SLC6A17):c.29G>A (p.Arg10His)	SLC6A17, SLC6A17-AS1 (R10H)	Single nucleotide variant (missense variant)	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	GUncertain significance
Select item 745853	NM_001010898.4(SLC6A17):c.81C>G (p.Leu27=)	SLC6A17, SLC6A17-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 723416	NM_001010898.4(SLC6A17):c.286+10A>G	SLC6A17, SLC6A17-AS1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity