ClinVar for Gene (Select 6621) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359238	NM_003086.4(SNAPC4):c.472-2_472-1del	SNAPC4	Deletion (splice acceptor variant)	SNAPC4 related condition	GPathogenic
Select item 3359237	NM_003086.4(SNAPC4):c.1436T>C (p.Ile479Thr)	SNAPC4 (I479T)	Single nucleotide variant (missense variant)	SNAPC4 related condition	GPathogenic
Select item 3341593	NM_003086.4(SNAPC4):c.2242G>A (p.Val748Met)	SNAPC4 (V720M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3341543	NM_003086.4(SNAPC4):c.2794C>G (p.Pro932Ala)	SNAPC4 (P904A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3321154	NM_003086.4(SNAPC4):c.928G>C (p.Ala310Pro)	SNAPC4 (A310P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3321153	NM_003086.4(SNAPC4):c.4296C>G (p.Asp1432Glu)	SNAPC4 (D1404E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3321152	NM_003086.4(SNAPC4):c.1729C>G (p.Gln577Glu)	SNAPC4 (Q577E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3321151	NM_003086.4(SNAPC4):c.3254T>G (p.Leu1085Arg)	SNAPC4 (L1057R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3321150	NM_003086.4(SNAPC4):c.2815G>A (p.Gly939Ser)	SNAPC4 (G911S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3321149	NM_003086.4(SNAPC4):c.3785C>G (p.Pro1262Arg)	SNAPC4 (P1234R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3321148	NM_003086.4(SNAPC4):c.2488C>T (p.His830Tyr)	SNAPC4 (H830Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3321146	NM_003086.4(SNAPC4):c.2249C>T (p.Pro750Leu)	SNAPC4 (P722L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3321145	NM_003086.4(SNAPC4):c.1045T>C (p.Trp349Arg)	SNAPC4 (W349R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3321144	NM_003086.4(SNAPC4):c.1783G>A (p.Ala595Thr)	SNAPC4 (A595T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3321143	NM_003086.4(SNAPC4):c.3196C>G (p.Pro1066Ala)	SNAPC4 (P1038A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3321142	NM_003086.4(SNAPC4):c.4129C>G (p.Leu1377Val)	SNAPC4 (L1377V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3321141	NM_003086.4(SNAPC4):c.3034G>A (p.Gly1012Ser)	SNAPC4 (G1012S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3321140	NM_003086.4(SNAPC4):c.3770C>T (p.Pro1257Leu)	SNAPC4 (P1229L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3321139	NM_003086.4(SNAPC4):c.4399C>T (p.Arg1467Trp)	SNAPC4 (R1467W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3321138	NM_003086.4(SNAPC4):c.2794C>T (p.Pro932Ser)	SNAPC4 (P904S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3321137	NM_003086.4(SNAPC4):c.1117C>T (p.Arg373Cys)	SNAPC4 (R373C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3321135	NM_003086.4(SNAPC4):c.4160G>A (p.Arg1387His)	SNAPC4 (R1387H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3321134	NM_003086.4(SNAPC4):c.1895C>G (p.Ala632Gly)	SNAPC4 (A632G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3321133	NM_003086.4(SNAPC4):c.2054G>A (p.Arg685Gln)	SNAPC4 (R685Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3321132	NM_003086.4(SNAPC4):c.3577G>A (p.Ala1193Thr)	SNAPC4 (A1165T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	HMCN2, IER5L +147 more	Duplication	not provided	GUncertain significance
Select item 3245126	NC_000009.11:g.(?_139265559)_(139333126_?)del	CARD9, ENTR1 +3 more	Deletion	Familial aplasia of the vermis	GPathogenic
Select item 3238725	GRCh38/hg38 9q34.3(chr9:135338745-138124196)	ABCA2, AGPAT2 +344 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238708	GRCh38/hg38 9q34.3(chr9:135791488-138262981)	ABCA2, AGPAT2 +325 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238707	GRCh38/hg38 9q34.3(chr9:135203306-138100471)	LOC130003123, LOC130003124 +345 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238701	GRCh38/hg38 9q34.2-34.3(chr9:134288333-138155727)	ABCA2, AGPAT2 +388 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238700	GRCh38/hg38 9q34.3(chr9:136032451-138125938)	LOC130003044, LOC130003045 +309 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238697	GRCh38/hg38 9q34.3(chr9:135008333-138199729)	ABCA2, AGPAT2 +347 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238694	GRCh38/hg38 9q34.3(chr9:135204722-138394717)	EHMT1, ENTPD2 +347 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238689	GRCh38/hg38 9q34.3(chr9:134642187-138121999)	ABCA2, AGPAT2 +367 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238673	GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	LOC124375238, LOC124375239 +569 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238671	GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	GBGT1, GLT6D1 +552 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238669	GRCh38/hg38 9q34.3(chr9:135954288-138125938)	LOC130003073, LOC130003074 +310 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238668	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238667	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	LOC130002921, LOC130002922 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238666	GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	LOC121366034, LOC121366035 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238664	GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	SARDH, SEC16A +568 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238663	GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238659	GRCh38/hg38 9q34.3(chr9:135182209-138129711)	UBAC1, ZMYND19 +346 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238658	GRCh38/hg38 9q34.3(chr9:135969078-138104469)	LOC126860801, LOC129390118 +309 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3166934	NM_003086.4(SNAPC4):c.771G>C (p.Arg257Ser)	SNAPC4 (R257S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166933	NM_003086.4(SNAPC4):c.707G>C (p.Arg236Thr)	SNAPC4 (R236T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166932	NM_003086.4(SNAPC4):c.578G>T (p.Arg193Leu)	SNAPC4 (R193L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166931	NM_003086.4(SNAPC4):c.494C>T (p.Thr165Ile)	SNAPC4 (T165I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166930	NM_003086.4(SNAPC4):c.4213C>T (p.Leu1405Phe)	SNAPC4 (L1377F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166929	NM_003086.4(SNAPC4):c.412C>T (p.Pro138Ser)	SNAPC4 (P138S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166928	NM_003086.4(SNAPC4):c.4112C>T (p.Ala1371Val)	SNAPC4 (A1343V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166927	NM_003086.4(SNAPC4):c.4076C>T (p.Pro1359Leu)	SNAPC4 (P1359L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166926	NM_003086.4(SNAPC4):c.4063C>T (p.Leu1355Phe)	SNAPC4 (L1327F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166925	NM_003086.4(SNAPC4):c.4016G>A (p.Arg1339Gln)	SNAPC4 (R1311Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166924	NM_003086.4(SNAPC4):c.3998T>G (p.Val1333Gly)	SNAPC4 (V1333G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166922	NM_003086.4(SNAPC4):c.3475G>A (p.Ala1159Thr)	SNAPC4 (A1159T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166921	NM_003086.4(SNAPC4):c.3358C>T (p.Arg1120Trp)	SNAPC4 (R1120W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166920	NM_003086.4(SNAPC4):c.3284G>A (p.Ser1095Asn)	SNAPC4 (S1067N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166919	NM_003086.4(SNAPC4):c.3262G>T (p.Val1088Phe)	SNAPC4 (V1060F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166918	NM_003086.4(SNAPC4):c.3097C>T (p.Arg1033Trp)	SNAPC4 (R1005W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166917	NM_003086.4(SNAPC4):c.3088G>A (p.Ala1030Thr)	SNAPC4 (A1030T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3166916	NM_003086.4(SNAPC4):c.3070G>C (p.Gly1024Arg)	SNAPC4 (G996R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166915	NM_003086.4(SNAPC4):c.3058G>A (p.Glu1020Lys)	SNAPC4 (E1020K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166914	NM_003086.4(SNAPC4):c.2969C>T (p.Ala990Val)	SNAPC4 (A962V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166913	NM_003086.4(SNAPC4):c.2875G>A (p.Ala959Thr)	SNAPC4 (A931T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166912	NM_003086.4(SNAPC4):c.2734C>T (p.Arg912Trp)	SNAPC4 (R912W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166911	NM_003086.4(SNAPC4):c.2716C>G (p.Arg906Gly)	SNAPC4 (R878G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166910	NM_003086.4(SNAPC4):c.2633C>T (p.Ala878Val)	SNAPC4 (A878V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3166909	NM_003086.4(SNAPC4):c.239C>T (p.Pro80Leu)	SNAPC4 (P80L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166908	NM_003086.4(SNAPC4):c.202A>G (p.Ser68Gly)	SNAPC4 (S68G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166907	NM_003086.4(SNAPC4):c.2011G>A (p.Val671Met)	SNAPC4 (V671M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3166906	NM_003086.4(SNAPC4):c.1919G>A (p.Arg640Lys)	SNAPC4 (R640K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166904	NM_003086.4(SNAPC4):c.1780C>T (p.Pro594Ser)	SNAPC4 (P594S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166903	NM_003086.4(SNAPC4):c.1663G>A (p.Gly555Ser)	SNAPC4 (G555S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166902	NM_003086.4(SNAPC4):c.1522C>T (p.Arg508Trp)	SNAPC4 (R508W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166901	NM_003086.4(SNAPC4):c.1309G>A (p.Ala437Thr)	SNAPC4 (A437T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166900	NM_003086.4(SNAPC4):c.1306G>A (p.Asp436Asn)	SNAPC4 (D436N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166899	NM_003086.4(SNAPC4):c.1064G>A (p.Arg355His)	SNAPC4 (R355H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2684590	GRCh37/hg19 9q34.2-34.3(chr9:136988996-141020389)x3	ABCA2, AGPAT2 +95 more	Copy number gain	not provided	GPathogenic
Select item 2672212	NM_003086.4(SNAPC4):c.471+6T>G	SNAPC4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2672211	NM_003086.4(SNAPC4):c.1063C>T (p.Arg355Cys)	SNAPC4 (R355C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2659734	NM_003086.4(SNAPC4):c.45G>A (p.Lys15=)	LOC126860791, SNAPC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659733	NM_003086.4(SNAPC4):c.3474C>T (p.His1158=)	SNAPC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659732	NM_003086.4(SNAPC4):c.3940C>T (p.Leu1314=)	SNAPC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620805	NM_003086.4(SNAPC4):c.3420G>T (p.Met1140Ile)	SNAPC4 (M1112I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613491	NM_003086.4(SNAPC4):c.443C>G (p.Pro148Arg)	SNAPC4 (P148R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604798	NM_003086.4(SNAPC4):c.310G>A (p.Ala104Thr)	SNAPC4 (A104T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603257	NM_003086.4(SNAPC4):c.3823T>C (p.Ser1275Pro)	SNAPC4 (S1247P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599311	NM_003086.4(SNAPC4):c.332A>T (p.Asn111Ile)	SNAPC4 (N111I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592941	NM_003086.4(SNAPC4):c.2058C>G (p.Ser686Arg)	SNAPC4 (S686R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592930	NM_003086.4(SNAPC4):c.2797C>G (p.Leu933Val)	SNAPC4 (L933V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589715	NM_003086.4(SNAPC4):c.3628G>A (p.Gly1210Ser)	SNAPC4 (G1182S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580890	NM_003086.4(SNAPC4):c.2527+1G>A	SNAPC4	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction	GLikely pathogenic
Select item 2580889	NM_003086.4(SNAPC4):c.737+5G>T	SNAPC4	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction	GPathogenic
Select item 2580888	NM_003086.4(SNAPC4):c.2428C>T (p.Arg810Ter)	SNAPC4 (R810* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction	GPathogenic
Select item 2580887	NM_003086.4(SNAPC4):c.1321G>A (p.Asp441Asn)	SNAPC4 (D441N)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction	GPathogenic
Select item 2580886	NM_003086.4(SNAPC4):c.1157A>G (p.Gln386Arg)	SNAPC4 (Q386R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction	GPathogenic
Select item 2580885	NM_003086.4(SNAPC4):c.1325+1G>T	SNAPC4	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction	GPathogenic

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