"Ambry Genetics"[submitter] AND "SYN1"[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 986137	NM_006950.3(SYN1):c.1970A>C (p.His657Pro)	SYN1 (H657P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 207464	NM_006950.3(SYN1):c.1968G>A (p.Pro656=)	SYN1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1307134	NM_006950.3(SYN1):c.1967C>T (p.Pro656Leu)	SYN1 (P656L)	Single nucleotide variant (missense variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +2 more	GUncertain significance
Select item 589838	NM_006950.3(SYN1):c.1831C>T (p.Pro611Ser)	SYN1 (P611S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 465093	NM_006950.3(SYN1):c.1818G>A (p.Gln606=)	SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +1 more	GLikely benign
Select item 2606834	NM_006950.3(SYN1):c.1721C>T (p.Pro574Leu)	SYN1 (P574L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1037249	NM_006950.3(SYN1):c.1711G>A (p.Gly571Ser)	SYN1 (G571S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1778408	NM_006950.3(SYN1):c.1704C>G (p.Ser568=)	SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +1 more	GLikely benign
Select item 465092	NM_006950.3(SYN1):c.1701A>T (p.Thr567=)	SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +2 more	GLikely benign
Select item 41890	NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala)	SYN1 (T567A)	Single nucleotide variant (missense variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +3 more	GConflicting classifications of pathogenicity
Select item 2254467	NM_006950.3(SYN1):c.1660C>T (p.Pro554Ser)	SYN1 (P554S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 931996	NM_006950.3(SYN1):c.1657T>C (p.Ser553Pro)	SYN1 (S553P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 194129	NM_006950.3(SYN1):c.1615G>A (p.Gly539Ser)	SYN1 (G539S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 139383	NM_006950.3(SYN1):c.1569G>A (p.Ala523=)	SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +3 more	GConflicting classifications of pathogenicity
Select item 2723503	NM_006950.3(SYN1):c.1525C>T (p.Pro509Ser)	SYN1 (P509S)	Single nucleotide variant (missense variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +1 more	GConflicting classifications of pathogenicity
Select item 2554777	NM_006950.3(SYN1):c.1481C>T (p.Ser494Leu)	SYN1 (S494L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1446458	NM_006950.3(SYN1):c.1460C>T (p.Pro487Leu)	SYN1 (P487L)	Single nucleotide variant (missense variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +1 more	GUncertain significance
Select item 207472	NM_006950.3(SYN1):c.1372C>G (p.Gln458Glu)	SYN1 (Q458E)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 50 +3 more	GConflicting classifications of pathogenicity
Select item 1957179	NM_006950.3(SYN1):c.1342A>T (p.Thr448Ser)	SYN1 (T448S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 193940	NM_006950.3(SYN1):c.1325T>C (p.Leu442Pro)	SYN1 (L442P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1769971	NM_006950.3(SYN1):c.1324C>T (p.Leu442=)	SYN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 586690	NM_006950.3(SYN1):c.1322C>A (p.Ala441Asp)	SYN1 (A441D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 590235	NM_006950.3(SYN1):c.1321G>T (p.Ala441Ser)	SYN1 (A441S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 436901	NM_006950.3(SYN1):c.1321G>A (p.Ala441Thr)	SYN1 (A441T)	Single nucleotide variant (missense variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +2 more	GUncertain significance
Select item 588529	NM_006950.3(SYN1):c.1310del (p.Pro437fs)	SYN1 (P437fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 624408	NM_006950.3(SYN1):c.1270C>T (p.Arg424Trp)	SYN1 (R424W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 465087	NM_006950.3(SYN1):c.1198G>A (p.Asp400Asn)	SYN1 (D400N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 589475	NM_006950.3(SYN1):c.1169C>A (p.Ser390Tyr)	SYN1 (S390Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 207463	NM_006950.3(SYN1):c.1110C>T (p.Cys370=)	SYN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 96363	NM_006950.3(SYN1):c.1107C>T (p.Ile369=)	SYN1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 589101	NM_006950.3(SYN1):c.1076C>A (p.Thr359Lys)	SYN1 (T359K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 465085	NM_006950.3(SYN1):c.1063C>T (p.Leu355=)	SYN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 378697	NM_006950.3(SYN1):c.1026G>A (p.Ala342=)	SYN1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 465102	NM_006950.3(SYN1):c.939C>T (p.Asp313=)	SYN1	Single nucleotide variant (synonymous variant)	History of neurodevelopmental disorder +1 more	GLikely benign
Select item 130386	NM_006950.3(SYN1):c.912C>T (p.Ala304=)	SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +3 more	GBenign
Select item 1764917	NM_006950.3(SYN1):c.885G>A (p.Val295=)	SYN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 207467	NM_006950.3(SYN1):c.844G>A (p.Val282Ile)	SYN1 (V282I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 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 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 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 1757292	NM_006950.3(SYN1):c.712A>G (p.Lys238Glu)	SYN1 (K238E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546662	NM_006950.3(SYN1):c.668G>C (p.Cys223Ser)	SYN1 (C223S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 520609	NM_006950.3(SYN1):c.635G>T (p.Ser212Ile)	SYN1 (S212I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 588046	NM_006950.3(SYN1):c.585C>T (p.Asn195=)	SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +1 more	GLikely benign
Select item 3323880	NM_006950.3(SYN1):c.581G>T (p.Arg194Leu)	SYN1 (R194L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 207466	NM_006950.3(SYN1):c.526C>T (p.Arg176Trp)	SYN1 (R176W)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2010979	NM_006950.3(SYN1):c.523G>A (p.Val175Met)	SYN1 (V175M)	Single nucleotide variant (missense variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +1 more	GConflicting classifications of pathogenicity
Select item 96364	NM_006950.3(SYN1):c.510T>C (p.Asn170=)	SYN1	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 50 +4 more	GBenign
Select item 212332	NM_006950.3(SYN1):c.506G>A (p.Arg169Gln)	SYN1 (R169Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1427022	NM_006950.3(SYN1):c.505C>T (p.Arg169Trp)	SYN1 (R169W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2312641	NM_006950.3(SYN1):c.485C>T (p.Ser162Phe)	SYN1 (S162F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 207459	NM_006950.3(SYN1):c.426A>G (p.Lys142=)	SYN1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 2287210	NM_006950.3(SYN1):c.425A>T (p.Lys142Ile)	SYN1 (K142I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548820	NM_006950.3(SYN1):c.402G>T (p.Lys134Asn)	SYN1 (K134N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 499415	NM_006950.3(SYN1):c.371C>T (p.Thr124Ile)	SYN1 (T124I)	Single nucleotide variant (missense variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +2 more	GUncertain significance
Select item 857385	NM_006950.3(SYN1):c.319G>A (p.Gly107Ser)	SYN1 (G107S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1369683	NM_006950.3(SYN1):c.189G>A (p.Pro63=)	SYN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 207465	NM_006950.3(SYN1):c.189G>T (p.Pro63=)	SYN1	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 1781859	NM_006950.3(SYN1):c.187C>G (p.Pro63Ala)	SYN1 (P63A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 846048	NM_006950.3(SYN1):c.169G>A (p.Val57Ile)	SYN1 (V57I)	Single nucleotide variant (missense variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +1 more	GUncertain significance
Select item 139384	NM_006950.3(SYN1):c.152C>G (p.Ala51Gly)	SYN1 (A51G)	Single nucleotide variant (missense variant)	History of neurodevelopmental disorder +3 more	GBenign
Select item 1034821	NM_006950.3(SYN1):c.112_126del (p.His38_Ala42del)	SYN1	Deletion (inframe_deletion)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1529098	NM_006950.3(SYN1):c.108T>C (p.Gly36=)	SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +1 more	GLikely benign

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Items: 64