Related gene-specific medical variations for Gene (Select 6855) - ClinVar - NCBI

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Links from Gene

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3324009	NM_003179.3(SYP):c.11T>C (p.Leu4Pro)	LOC130068281, SYP +1 more (L4P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257692	NM_003179.3(SYP):c.438G>A (p.Thr146=)	LOC119407421, SYP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3064753	NM_003179.3(SYP):c.882C>G (p.Asp294Glu)	SYP (D294E)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 96	GUncertain significance
Select item 3062057	NM_003179.3(SYP):c.54G>C (p.Gln18His)	SYP-AS1, SYP (Q18H)	Single nucleotide variant (non-coding transcript variant +1 more)	Intellectual disability, X-linked 96	GUncertain significance
Select item 2683588	NM_003179.3(SYP):c.31A>C (p.Asn11His)	LOC130068281, SYP +1 more (N11H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683587	NM_003179.3(SYP):c.456G>A (p.Met152Ile)	LOC119407421, SYP (M152I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672138	NM_003179.3(SYP):c.61G>A (p.Val21Met)	SYP, SYP-AS1 (V21M)	Single nucleotide variant (non-coding transcript variant +1 more)	Intellectual disability, X-linked 96 +1 more	GUncertain significance
Select item 2664186	NM_003179.3(SYP):c.49G>A (p.Gly17Ser)	SYP, SYP-AS1 (G17S)	Single nucleotide variant (non-coding transcript variant +1 more)	Intellectual disability, X-linked 96	GUncertain significance
Select item 2662521	NM_003179.3(SYP):c.53A>G (p.Gln18Arg)	SYP, SYP-AS1 (Q18R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2506289	NM_003179.3(SYP):c.61G>C (p.Val21Leu)	SYP, SYP-AS1 (V21L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2436915	NM_003179.3(SYP):c.787G>A (p.Gly263Arg)	SYP (G263R)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 96	GUncertain significance
Select item 1739921	NM_003179.3(SYP):c.434C>T (p.Ala145Val)	LOC119407421, SYP (A145V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1700130	NM_003179.3(SYP):c.684G>A (p.Trp228Ter)	SYP (W228*)	Single nucleotide variant (nonsense)	Neurodevelopmental delay	GLikely pathogenic
Select item 1698293	NM_003179.3(SYP):c.46G>C (p.Gly16Arg)	SYP, SYP-AS1 (G16R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1339647	NM_003179.3(SYP):c.2T>C (p.Met1Thr)	LOC130068281, SYP +1 more (M1T)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 96	GLikely pathogenic
Select item 1308855	NM_003179.3(SYP):c.3G>A (p.Met1Ile)	LOC130068281, SYP +1 more (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 368468	NM_003179.3(SYP):c.54G>A (p.Gln18=)	SYP, SYP-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 212359	NM_003179.3(SYP):c.5T>A (p.Leu2Gln)	SYP-AS1, LOC130068281 +1 more (L2Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity