Related gene-specific medical variations for Gene (Select 6853) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361699	NM_006950.3(SYN1):c.1693C>T (p.Arg565Cys)	SYN1 (R565C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360605	NM_006950.3(SYN1):c.1768C>T (p.Pro590Ser)	SYN1 (P590S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3326195	NM_003254.3(TIMP1):c.388A>C (p.Ser130Arg)	SYN1, TIMP1 (S130R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3244696	NC_000023.10:g.(?_47460607)_(47464667_?)del	SYN1	Deletion	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely pathogenic
Select item 3177573	NM_003254.3(TIMP1):c.98C>T (p.Thr33Met)	SYN1, TIMP1 (T33M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2883733	NM_006950.3(SYN1):c.775-3C>T	LOC121627969, SYN1	Single nucleotide variant (intron variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 2695374	NM_006950.3(SYN1):c.789G>C (p.Thr263=)	LOC121627969, SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 2690175	NM_006950.3(SYN1):c.337T>G (p.Ser113Ala)	SYN1 (S113A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2665059	NM_006950.3(SYN1):c.1158+8C>T	SYN1	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 50 +1 more	GUncertain significance
Select item 2660430	NM_003254.3(TIMP1):c.195G>T (p.Met65Ile)	SYN1, TIMP1 (M65I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2501862	NM_006950.3(SYN1):c.775-3C>G	LOC121627969, SYN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2466164	NM_003254.3(TIMP1):c.608G>A (p.Arg203Gln)	SYN1, TIMP1 (R203Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2436527	NM_006950.3(SYN1):c.1174A>C (p.Met392Leu)	SYN1 (M392L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436526	NM_006950.3(SYN1):c.808A>G (p.Met270Val)	LOC121627969, SYN1 (M270V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434031	NM_006950.3(SYN1):c.1110C>A (p.Cys370Ter)	SYN1 (C370*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2429913	NM_006950.3(SYN1):c.820C>T (p.His274Tyr)	LOC121627969, SYN1 (H274Y)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GUncertain significance
Select item 2240922	NM_003254.3(TIMP1):c.22G>A (p.Ala8Thr)	SYN1, TIMP1 (A8T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2129218	NM_006950.3(SYN1):c.780C>T (p.Ser260=)	LOC121627969, SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 1696673	NM_006950.3(SYN1):c.435G>A (p.Gln145=)	SYN1	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 50 +1 more	GUncertain significance
Select item 1610341	NM_006950.3(SYN1):c.789G>T (p.Thr263=)	LOC121627969, SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 1587026	NM_006950.3(SYN1):c.775-17T>C	LOC121627969, SYN1	Single nucleotide variant (intron variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 1581575	NM_006950.3(SYN1):c.775-20C>T	LOC121627969, SYN1	Single nucleotide variant (intron variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 1557609	NM_006950.3(SYN1):c.775-14del	LOC121627969, SYN1	Deletion (intron variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 1487051	NM_006950.3(SYN1):c.794C>T (p.Pro265Leu)	LOC121627969, SYN1 (P265L)	Single nucleotide variant (missense variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 1165693	NM_006950.3(SYN1):c.775-8085A>G	SYN1, TIMP1	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +1 more	GBenign
Select item 994515	NM_006950.3(SYN1):c.2112C>T (p.Ser704=)	SYN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 812162	NM_006950.3(SYN1):c.314del (p.Gly105fs)	SYN1 (G105fs)	Deletion (frameshift variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely pathogenic
Select item 732080	NM_003254.3(TIMP1):c.574C>T (p.Arg192Trp)	SYN1, TIMP1 (R192W)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 720215	NM_003254.3(TIMP1):c.575G>A (p.Arg192Gln)	SYN1, TIMP1 (R192Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 699369	NM_006950.3(SYN1):c.789G>A (p.Thr263=)	LOC121627969, SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 436902	NM_006950.3(SYN1):c.817G>A (p.Ala273Thr)	LOC121627969, SYN1 (A273T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 436899	NM_006950.3(SYN1):c.775-4C>T	LOC121627969, SYN1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 436898	NM_006950.3(SYN1):c.816C>T (p.His272=)	LOC121627969, SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +1 more	GLikely benign
Select item 425495	NM_006950.3(SYN1):c.2026del (p.Ala676fs)	SYN1 (A676fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 34