"GeneDx"[submitter] AND "SYN1"[gene] - ClinVar

Search results

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59265	GRCh38/hg38 Xp11.4-11.23(chrX:41434043-47880733)x1	ARAF, CASK +152 more	Copy number loss	See cases	GPathogenic
Select item 2579785	NM_006950.3(SYN1):c.2043C>T (p.Ser681=)	SYN1 (P669S)	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 954219	NM_006950.3(SYN1):c.1972C>T (p.Pro658Ser)	SYN1 (P658S)	Single nucleotide variant (missense variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +2 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 207477	NM_006950.3(SYN1):c.1961G>A (p.Gly654Glu)	SYN1 (G654E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 207476	NM_006950.3(SYN1):c.1943C>T (p.Ala648Val)	SYN1 (A648V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2662200	NM_006950.3(SYN1):c.1813A>C (p.Ser605Arg)	SYN1 (S605R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1320752	NM_006950.3(SYN1):c.1787G>T (p.Gly596Val)	SYN1 (G596V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1699703	NM_006950.3(SYN1):c.1673C>T (p.Ala558Val)	SYN1 (A558V)	Single nucleotide variant (missense variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +1 more	GUncertain significance
Select item 569374	NM_006950.3(SYN1):c.1667G>T (p.Arg556Leu)	SYN1 (R556L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 207475	NM_006950.3(SYN1):c.1665G>T (p.Gln555His)	SYN1 (Q555H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1994692	NM_006950.3(SYN1):c.1647_1650dup (p.Ser551fs)	SYN1 (S551fs)	Microsatellite (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3252375	NM_006950.3(SYN1):c.1634C>A (p.Ala545Glu)	SYN1 (A545E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340301	NM_006950.3(SYN1):c.1627C>T (p.Pro543Ser)	SYN1 (P543S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1187026	NM_006950.3(SYN1):c.1624G>A (p.Ala542Thr)	SYN1 (A542T)	Single nucleotide variant (missense variant)	not provided	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 1514317	NM_006950.3(SYN1):c.1577C>T (p.Thr526Ile)	SYN1 (T526I)	Single nucleotide variant (missense variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +1 more	GUncertain significance
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 207474	NM_006950.3(SYN1):c.1543C>G (p.Pro515Ala)	SYN1 (P515A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305398	NM_006950.3(SYN1):c.1520G>T (p.Arg507Leu)	SYN1 (R507L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707008	NM_006950.3(SYN1):c.1504A>T (p.Ser502Cys)	SYN1 (S502C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712689	NM_006950.3(SYN1):c.1483G>A (p.Gly495Ser)	SYN1 (G495S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 207479	NM_006950.3(SYN1):c.1470GCA[1] (p.Gln491del)	SYN1 (Q491del)	Microsatellite (inframe_deletion)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +1 more	GConflicting classifications of pathogenicity
Select item 1087808	NM_006950.3(SYN1):c.1455G>A (p.Pro485=)	SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +1 more	GBenign/Likely benign
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 207471	NM_006950.3(SYN1):c.1345T>A (p.Ser449Thr)	SYN1 (S449T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1810744	NM_006950.3(SYN1):c.1318G>A (p.Gly440Arg)	SYN1 (G440R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 207470	NM_006950.3(SYN1):c.1297C>T (p.His433Tyr)	SYN1 (H433Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1878782	NM_006950.3(SYN1):c.1265G>C (p.Arg422Pro)	SYN1 (R422P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 207469	NM_006950.3(SYN1):c.1264C>T (p.Arg422Ter)	SYN1 (R422*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1307677	NM_006950.3(SYN1):c.1216A>G (p.Ile406Val)	SYN1 (I406V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368553	NM_006950.3(SYN1):c.1207A>G (p.Lys403Glu)	SYN1 (K403E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2702398	NM_006950.3(SYN1):c.1202A>T (p.Glu401Val)	SYN1 (E401V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1302318	NM_006950.3(SYN1):c.1133A>G (p.Lys378Arg)	SYN1 (K378R)	Single nucleotide variant (missense variant)	not provided	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 3253515	NM_006950.3(SYN1):c.1076C>T (p.Thr359Met)	SYN1 (T359M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 199183	NM_006950.3(SYN1):c.1056-14_1056-8del	SYN1	Deletion (intron variant)	not provided +2 more	GBenign
Select item 420203	NM_006950.3(SYN1):c.1056-11del	SYN1	Deletion (intron variant)	not specified	GLikely benign
Select item 139382	NM_006950.3(SYN1):c.1055+12G>A	SYN1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
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 207468	NM_006950.3(SYN1):c.1025C>T (p.Ala342Val)	SYN1 (A342V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1351541	NM_006950.3(SYN1):c.986C>A (p.Thr329Lys)	SYN1 (T329K)	Single nucleotide variant (missense variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +1 more	GUncertain significance
Select item 379583	NM_006950.3(SYN1):c.981-19C>T	SYN1	Single nucleotide variant (intron variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +1 more	GBenign
Select item 139381	NM_006950.3(SYN1):c.980+14C>T	SYN1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
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 2499803	NM_006950.3(SYN1):c.899C>T (p.Thr300Met)	SYN1 (T300M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 426694	NM_006950.3(SYN1):c.883G>A (p.Val295Met)	SYN1 (V295M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 130385	NM_006950.3(SYN1):c.838-8T>G	SYN1	Single nucleotide variant (intron variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +2 more	GBenign
Select item 2501862	NM_006950.3(SYN1):c.775-3C>G	LOC121627969, SYN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1291051	NM_006950.3(SYN1):c.774+85del	SYN1	Deletion (intron variant)	not provided	GBenign
Select item 378696	NM_006950.3(SYN1):c.580C>T (p.Arg194Cys)	SYN1 (R194C)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3363217	NM_006950.3(SYN1):c.556C>T (p.Arg186Cys)	SYN1 (R186C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 465099	NM_006950.3(SYN1):c.528-2A>T	SYN1	Single nucleotide variant (splice acceptor variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +1 more	GPathogenic/Likely pathogenic
Select item 139380	NM_006950.3(SYN1):c.528-19C>T	SYN1	Single nucleotide variant (intron variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +1 more	GBenign
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 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 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 207480	NM_006950.3(SYN1):c.439G>A (p.Glu147Lys)	SYN1 (E147K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 449262	NM_006950.3(SYN1):c.430G>A (p.Glu144Lys)	SYN1 (E144K)	Single nucleotide variant (missense variant)	not provided +1 more	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 207478	NM_006950.3(SYN1):c.364C>T (p.Pro122Ser)	SYN1 (P122S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 450386	NM_006950.3(SYN1):c.361G>T (p.Glu121Ter)	SYN1 (E121*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3370857	NM_006950.3(SYN1):c.338C>A (p.Ser113Tyr)	SYN1 (S113Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817226	NM_006950.3(SYN1):c.288del (p.Ser96fs)	SYN1 (S96fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2662098	NM_006950.3(SYN1):c.250G>A (p.Val84Ile)	SYN1 (V84I)	Single nucleotide variant (missense variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +1 more	GUncertain significance
Select item 696474	NM_006950.3(SYN1):c.249G>T (p.Ala83=)	SYN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely 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 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 1434937	NM_006950.3(SYN1):c.88C>G (p.Pro30Ala)	SYN1 (P30A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 451411	NM_006950.3(SYN1):c.47A>G (p.Asn16Ser)	SYN1 (N16S)	Single nucleotide variant (missense variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +1 more	GUncertain significance
Select item 1314175	NM_006950.3(SYN1):c.28G>A (p.Asp10Asn)	SYN1 (D10N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313044	NM_006950.3(SYN1):c.16C>T (p.Arg6Cys)	SYN1 (R6C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253615	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	ACE2, ACOT9 +316 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253571	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1	ACE2, ACOT9 +316 more	Copy number loss	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253436	GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3	ABCB7, AKAP4 +250 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
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

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Items: 95