79753[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	TXLNA, UBXN11 +1145 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2727393	NM_024700.4(SNIP1):c.1178T>C (p.Val393Ala)	SNIP1 (V393A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1468648	NM_024700.4(SNIP1):c.1172AAG[1] (p.Glu392del)	SNIP1 (E392del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2051839	NM_024700.4(SNIP1):c.1161GGA[3] (p.Glu392del)	SNIP1 (E392del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2852976	NM_024700.4(SNIP1):c.1170G>A (p.Glu390=)	SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1507459	NM_024700.4(SNIP1):c.1158_1163del (p.384DE[1])	SNIP1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2184549	NM_024700.4(SNIP1):c.1161G>C (p.Glu387Asp)	SNIP1 (E387D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1490864	NM_024700.4(SNIP1):c.1158_1160del (p.Asp386del)	SNIP1 (D386del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 252743	NM_024700.4(SNIP1):c.1158T>G (p.Asp386Glu)	SNIP1 (D386E)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1397897	NM_024700.4(SNIP1):c.1156G>A (p.Asp386Asn)	SNIP1 (D386N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2913985	NM_024700.4(SNIP1):c.1153G>A (p.Glu385Lys)	SNIP1 (E385K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1589792	NM_024700.4(SNIP1):c.1152C>T (p.Asp384=)	SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1437832	NM_024700.4(SNIP1):c.1148A>G (p.Asp383Gly)	SNIP1 (D383G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1660171	NM_024700.4(SNIP1):c.1146A>G (p.Lys382=)	SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1374208	NM_024700.4(SNIP1):c.1145A>G (p.Lys382Arg)	SNIP1 (K382R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1411755	NM_024700.4(SNIP1):c.1139_1142del (p.Asp380fs)	SNIP1 (D380fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1373159	NM_024700.4(SNIP1):c.1135A>G (p.Ile379Val)	SNIP1 (I379V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2070723	NM_024700.4(SNIP1):c.1124A>G (p.Asp375Gly)	SNIP1 (D375G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1656855	NM_024700.4(SNIP1):c.1122G>A (p.Ser374=)	SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2082722	NM_024700.4(SNIP1):c.1119G>T (p.Ser373=)	SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1639214	NM_024700.4(SNIP1):c.1119G>A (p.Ser373=)	SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2075106	NM_024700.4(SNIP1):c.1118C>T (p.Ser373Leu)	SNIP1 (S373L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1964494	NM_024700.4(SNIP1):c.1113T>C (p.His371=)	SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2753216	NM_024700.4(SNIP1):c.1108C>T (p.Leu370Phe)	SNIP1 (L370F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2815103	NM_024700.4(SNIP1):c.1106T>C (p.Leu369Ser)	SNIP1 (L369S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1538926	NM_024700.4(SNIP1):c.1101C>T (p.Tyr367=)	SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 30717	NM_024700.4(SNIP1):c.1097A>G (p.Glu366Gly)	SNIP1 (E366G)	Single nucleotide variant (missense variant)	Psychomotor retardation, epilepsy, and craniofacial dysmorphism +2 more	GConflicting classifications of pathogenicity
Select item 1033643	NM_024700.4(SNIP1):c.1085T>A (p.Phe362Tyr)	SNIP1 (F362Y)	Single nucleotide variant (missense variant)	Psychomotor retardation, epilepsy, and craniofacial dysmorphism	GUncertain significance
Select item 2900880	NM_024700.4(SNIP1):c.1071A>T (p.Val357=)	SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1434612	NM_024700.4(SNIP1):c.1060_1063del (p.Glu354fs)	SNIP1 (E354fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1980437	NM_024700.4(SNIP1):c.1059A>G (p.Lys353=)	SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1720020	NM_024700.4(SNIP1):c.1055T>C (p.Leu352Pro)	SNIP1 (L352P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1298342	NM_024700.4(SNIP1):c.1054C>G (p.Leu352Val)	SNIP1 (L352V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1948872	NM_024700.4(SNIP1):c.1050T>C (p.Tyr350=)	SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1544742	NM_024700.4(SNIP1):c.981C>T (p.Tyr327=)	SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 788206	NM_024700.4(SNIP1):c.975G>A (p.Lys325=)	SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2335537	NM_024700.4(SNIP1):c.965G>A (p.Arg322Gln)	SNIP1 (R322Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1965534	NM_024700.4(SNIP1):c.944G>A (p.Arg315His)	SNIP1 (R315H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1713626	NM_024700.4(SNIP1):c.937T>C (p.Tyr313His)	SNIP1 (Y313H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2038683	NM_024700.4(SNIP1):c.931G>A (p.Val311Met)	SNIP1 (V311M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1963096	NM_024700.4(SNIP1):c.927-4C>T	SNIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2132196	NM_024700.4(SNIP1):c.927-5G>A	SNIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1531756	NM_024700.4(SNIP1):c.927-5G>T	SNIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1601218	NM_024700.4(SNIP1):c.927-8del	SNIP1	Deletion (intron variant)	not provided	GBenign
Select item 1982598	NM_024700.4(SNIP1):c.927-13T>C	SNIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2143452	NM_024700.4(SNIP1):c.927-14T>C	SNIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1938529	NM_024700.4(SNIP1):c.927-15C>T	SNIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 717891	NM_024700.4(SNIP1):c.926+7A>T	LOC126805704, SNIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1398097	NM_024700.4(SNIP1):c.921A>G (p.Gln307=)	SNIP1, LOC126805704	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1635629	NM_024700.4(SNIP1):c.912G>A (p.Ala304=)	LOC126805704, SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1475005	NM_024700.4(SNIP1):c.911C>T (p.Ala304Val)	LOC126805704, SNIP1 (A304V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2816219	NM_024700.4(SNIP1):c.909T>C (p.His303=)	LOC126805704, SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728498	NM_024700.4(SNIP1):c.891G>A (p.Pro297=)	LOC126805704, SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1433643	NM_024700.4(SNIP1):c.880A>G (p.Ile294Val)	LOC126805704, SNIP1 (I294V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1545459	NM_024700.4(SNIP1):c.879A>G (p.Pro293=)	LOC126805704, SNIP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1362318	NM_024700.4(SNIP1):c.863G>A (p.Arg288His)	LOC126805704, SNIP1 (R288H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1421095	NM_024700.4(SNIP1):c.862C>T (p.Arg288Cys)	LOC126805704, SNIP1 (R288C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1365989	NM_024700.4(SNIP1):c.860G>A (p.Arg287His)	SNIP1, LOC126805704 (R287H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875916	NM_024700.4(SNIP1):c.853C>T (p.Arg285Ter)	LOC126805704, SNIP1 (R285*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1627317	NM_024700.4(SNIP1):c.840G>A (p.Ala280=)	LOC126805704, SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2916236	NM_024700.4(SNIP1):c.823A>G (p.Ile275Val)	LOC126805704, SNIP1 (I275V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981331	NM_024700.4(SNIP1):c.818T>C (p.Met273Thr)	LOC126805704, SNIP1 (M273T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1371260	NM_024700.4(SNIP1):c.806T>C (p.Val269Ala)	LOC126805704, SNIP1 (V269A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2920602	NM_024700.4(SNIP1):c.798T>C (p.Asn266=)	LOC126805704, SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3065687	NM_024700.4(SNIP1):c.794A>T (p.Lys265Ile)	LOC126805704, SNIP1 (K265I)	Single nucleotide variant (missense variant)	Psychomotor retardation, epilepsy, and craniofacial dysmorphism	GUncertain significance
Select item 1931088	NM_024700.4(SNIP1):c.788C>T (p.Pro263Leu)	LOC126805704, SNIP1 (P263L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1979989	NM_024700.4(SNIP1):c.785A>T (p.Tyr262Phe)	LOC126805704, SNIP1 (Y262F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1975200	NM_024700.4(SNIP1):c.765C>G (p.Pro255=)	LOC126805704, SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019898	NM_024700.4(SNIP1):c.760A>G (p.Ile254Val)	LOC126805704, SNIP1 (I254V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1429241	NM_024700.4(SNIP1):c.758G>T (p.Arg253Leu)	LOC126805704, SNIP1 (R253L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2717345	NM_024700.4(SNIP1):c.757C>T (p.Arg253Cys)	LOC126805704, SNIP1 (R253C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2197207	NM_024700.4(SNIP1):c.744G>A (p.Glu248=)	LOC126805704, SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2161112	NM_024700.4(SNIP1):c.724G>A (p.Val242Ile)	LOC126805704, SNIP1 (V242I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1462854	NM_024700.4(SNIP1):c.719G>A (p.Arg240Gln)	LOC126805704, SNIP1 (R240Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2783335	NM_024700.4(SNIP1):c.712A>G (p.Thr238Ala)	LOC126805704, SNIP1 (T238A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1667243	NM_024700.4(SNIP1):c.708C>T (p.Thr236=)	LOC126805704, SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2157649	NM_024700.4(SNIP1):c.702_704del (p.Glu234del)	LOC126805704, SNIP1 (E234del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1393008	NM_024700.4(SNIP1):c.692C>T (p.Ala231Val)	LOC126805704, SNIP1 (A231V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1446061	NM_024700.4(SNIP1):c.691G>A (p.Ala231Thr)	LOC126805704, SNIP1 (A231T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2152165	NM_024700.4(SNIP1):c.674G>A (p.Ser225Asn)	LOC126805704, SNIP1 (S225N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1463702	NM_024700.4(SNIP1):c.671C>G (p.Pro224Arg)	LOC126805704, SNIP1 (P224R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015527	NM_024700.4(SNIP1):c.658G>A (p.Ala220Thr)	LOC126805704, SNIP1 (A220T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1624453	NM_024700.4(SNIP1):c.657C>T (p.Pro219=)	LOC126805704, SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2195774	NM_024700.4(SNIP1):c.652G>A (p.Val218Met)	LOC126805704, SNIP1 (V218M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1721807	NM_024700.4(SNIP1):c.635A>G (p.Asn212Ser)	LOC126805704, SNIP1 (N212S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1484541	NM_024700.4(SNIP1):c.633C>T (p.Gly211=)	LOC126805704, SNIP1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1473532	NM_024700.4(SNIP1):c.622C>T (p.Arg208Trp)	LOC126805704, SNIP1 (R208W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170796	NM_024700.4(SNIP1):c.620C>T (p.Pro207Leu)	LOC126805704, SNIP1 (P207L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3166988	NM_024700.4(SNIP1):c.605C>T (p.Ser202Phe)	LOC126805704, SNIP1 (S202F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1539898	NM_024700.4(SNIP1):c.600T>C (p.Ser200=)	LOC126805704, SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1399674	NM_024700.4(SNIP1):c.595G>A (p.Gly199Ser)	LOC126805704, SNIP1 (G199S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 729659	NM_024700.4(SNIP1):c.594C>T (p.Gly198=)	LOC126805704, SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1625626	NM_024700.4(SNIP1):c.591T>C (p.Gly197=)	LOC126805704, SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1970031	NM_024700.4(SNIP1):c.590G>T (p.Gly197Val)	LOC126805704, SNIP1 (G197V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1413676	NM_024700.4(SNIP1):c.584T>G (p.Val195Gly)	SNIP1, LOC126805704 (V195G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1521425	NM_024700.4(SNIP1):c.583G>A (p.Val195Ile)	LOC126805704, SNIP1 (V195I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1574396	NM_024700.4(SNIP1):c.582C>T (p.Asp194=)	LOC126805704, SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 766811	NM_024700.4(SNIP1):c.579T>G (p.Asn193Lys)	LOC126805704, SNIP1 (N193K)	Single nucleotide variant (missense variant)	SNIP1-related condition +1 more	GBenign/Likely benign
Select item 766816	NM_024700.4(SNIP1):c.568C>T (p.Arg190Cys)	LOC126805704, SNIP1 (R190C)	Single nucleotide variant (missense variant)	not provided	GBenign

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