VARS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 3188189	NM_006295.3(VARS1):c.3706C>T (p.Gln1236Ter)	VARS1 (Q1236*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GUncertain significance
Select item 996552	NM_006295.3(VARS1):c.3695C>A (p.Pro1232Gln)	VARS1 (P1232Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	GUncertain significance
Select item 1710042	NM_006295.3(VARS1):c.3688A>G (p.Lys1230Glu)	VARS1 (K1230E)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	GUncertain significance
Select item 2454790	NM_006295.3(VARS1):c.3664C>T (p.Arg1222Cys)	VARS1 (R1222C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1029031	NM_006295.3(VARS1):c.3656G>A (p.Arg1219Gln)	VARS1 (R1219Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	GUncertain significance
Select item 1031627	NM_006295.3(VARS1):c.3655C>T (p.Arg1219Trp)	VARS1 (R1219W)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	GUncertain significance
Select item 1029030	NM_006295.3(VARS1):c.3650G>A (p.Arg1217His)	VARS1 (R1217H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3045730	NM_006295.3(VARS1):c.3649C>T (p.Arg1217Cys)	VARS1 (R1217C)	Single nucleotide variant (missense variant)	VARS1-related disorder	GBenign
Select item 1031626	NM_006295.3(VARS1):c.3646C>T (p.Gln1216Ter)	VARS1 (Q1216*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	GPathogenic
Select item 1029029	NM_006295.3(VARS1):c.3623G>A (p.Arg1208Gln)	VARS1 (R1208Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 873441	NM_006295.3(VARS1):c.3622C>T (p.Arg1208Ter)	VARS1 (R1208*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	GPathogenic/Likely pathogenic
Select item 3188188	NM_006295.3(VARS1):c.3596G>A (p.Arg1199Gln)	VARS1 (R1199Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188187	NM_006295.3(VARS1):c.3595C>T (p.Arg1199Trp)	VARS1 (R1199W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2656418	NM_006295.3(VARS1):c.3591T>G (p.Pro1197=)	VARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656419	NM_006295.3(VARS1):c.3579G>A (p.Gly1193=)	VARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2548505	NM_006295.3(VARS1):c.3575A>G (p.Gln1192Arg)	VARS1 (Q1192R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3040947	NM_006295.3(VARS1):c.3522G>C (p.Gln1174His)	VARS1 (Q1174H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 774865	NM_006295.3(VARS1):c.3459C>T (p.Tyr1153=)	VARS1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2571247	NM_006295.3(VARS1):c.3432C>T (p.Gly1144=)	VARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656420	NM_006295.3(VARS1):c.3417G>A (p.Ala1139=)	VARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3188186	NM_006295.3(VARS1):c.3392G>C (p.Arg1131Pro)	VARS1 (R1131P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1031625	NM_006295.3(VARS1):c.3386G>A (p.Arg1129Gln)	VARS1 (R1129Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy +1 more	GUncertain significance
Select item 1970153	NM_006295.3(VARS1):c.3371A>G (p.Asp1124Gly)	VARS1 (D1124G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3188185	NM_006295.3(VARS1):c.3362T>C (p.Leu1121Pro)	VARS1 (L1121P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 559839	NM_006295.3(VARS1):c.3355C>T (p.Arg1119Cys)	VARS1 (R1119C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	GLikely pathogenic
Select item 2656421	NM_006295.3(VARS1):c.3346C>A (p.Arg1116=)	VARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 976679	NM_006295.3(VARS1):c.3344C>G (p.Thr1115Arg)	VARS1 (T1115R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	GLikely pathogenic
Select item 2656422	NM_006295.3(VARS1):c.3336A>G (p.Leu1112=)	VARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 712617	NM_006295.3(VARS1):c.3333G>T (p.Ala1111=)	VARS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3331848	NM_006295.3(VARS1):c.3332C>T (p.Ala1111Val)	VARS1 (A1111V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1299022	NM_006295.3(VARS1):c.3318C>T (p.Ala1106=)	VARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2691775	NM_006295.3(VARS1):c.3288G>T (p.Glu1096Asp)	VARS1 (E1096D)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	GUncertain significance
Select item 992579	NM_006295.3(VARS1):c.3266C>T (p.Thr1089Ile)	VARS1 (T1089I)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	GLikely pathogenic
Select item 1029028	NM_006295.3(VARS1):c.3253A>G (p.Ser1085Gly)	VARS1 (S1085G)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	GUncertain significance
Select item 559443	NM_006295.3(VARS1):c.3214T>C (p.Phe1072Leu)	VARS1 (F1072L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy +7 more	GConflicting classifications of pathogenicity
Select item 3340106	NM_006295.3(VARS1):c.3203C>A (p.Thr1068Lys)	VARS1 (T1068K)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	GLikely pathogenic
Select item 3236664	NM_006295.3(VARS1):c.3203C>T (p.Thr1068Met)	VARS1 (T1068M)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	GConflicting classifications of pathogenicity
Select item 590285	NM_006295.3(VARS1):c.3192G>A (p.Met1064Ile)	VARS1 (M1064I)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	GPathogenic
Select item 2627112	NM_006295.3(VARS1):c.3182C>T (p.Ser1061Leu)	VARS1 (S1061L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	GLikely pathogenic
Select item 402134	NM_006295.3(VARS1):c.3173G>A (p.Arg1058Gln)	VARS1 (R1058Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy +1 more	GLikely pathogenic
Select item 783630	NM_006295.3(VARS1):c.3163G>A (p.Val1055Ile)	VARS1 (V1055I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2656423	NM_006295.3(VARS1):c.3162C>T (p.Asp1054=)	VARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3188184	NM_006295.3(VARS1):c.3137G>A (p.Arg1046His)	VARS1 (R1046H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 722185	NM_006295.3(VARS1):c.3118G>A (p.Val1040Met)	VARS1 (V1040M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1184291	NM_006295.3(VARS1):c.3115C>T (p.Gln1039Ter)	VARS1 (Q1039*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	GLikely pathogenic
Select item 3188183	NM_006295.3(VARS1):c.3028G>A (p.Val1010Ile)	VARS1 (V1010I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188182	NM_006295.3(VARS1):c.3024G>A (p.Pro1008=)	VARS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 780984	NM_006295.3(VARS1):c.3023C>T (p.Pro1008Leu)	VARS1 (P1008L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3188181	NM_006295.3(VARS1):c.3016G>A (p.Asp1006Asn)	VARS1 (D1006N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188180	NM_006295.3(VARS1):c.2996A>G (p.Asn999Ser)	VARS1 (N999S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188179	NM_006295.3(VARS1):c.2969G>A (p.Arg990His)	VARS1 (R990H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1334820	NM_006295.3(VARS1):c.2962C>T (p.Arg988Cys)	VARS1 (R988C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1196166	NM_006295.3(VARS1):c.2954G>A (p.Arg985His)	VARS1 (R985H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1690598	NM_006295.3(VARS1):c.2915C>T (p.Pro972Leu)	VARS1 (P972L)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 3188178	NM_006295.3(VARS1):c.2884C>T (p.Arg962Cys)	VARS1 (R962C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1060844	NM_006295.3(VARS1):c.2857C>T (p.Leu953Phe)	VARS1 (L953F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 559838	NM_006295.3(VARS1):c.2840G>A (p.Arg947His)	VARS1 (R947H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1334736	NM_006295.3(VARS1):c.2821_2825del (p.Asn941fs)	VARS1 (N941fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	GLikely pathogenic
Select item 561999	NM_006295.3(VARS1):c.2825G>A (p.Arg942Gln)	VARS1 (R942Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 992580	NM_006295.3(VARS1):c.2824C>T (p.Arg942Trp)	VARS1 (R942W)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	GLikely pathogenic
Select item 3188177	NM_006295.3(VARS1):c.2767C>T (p.Arg923Trp)	VARS1 (R923W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2662032	NM_006295.3(VARS1):c.2758G>A (p.Asp920Asn)	VARS1 (D920N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3188175	NM_006295.3(VARS1):c.2740A>T (p.Ile914Phe)	VARS1 (I914F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1031623	NM_006295.3(VARS1):c.2735C>A (p.Ala912Glu)	VARS1 (A912E)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	GUncertain significance
Select item 3052046	NM_006295.3(VARS1):c.2719-5T>C	VARS1	Single nucleotide variant (intron variant)	VARS1-related disorder	GLikely benign
Select item 3188174	NM_006295.3(VARS1):c.2689A>C (p.Ser897Arg)	VARS1 (S897R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 932466	NM_006295.3(VARS1):c.2687C>G (p.Pro896Arg)	VARS1 (P896R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 402133	NM_006295.3(VARS1):c.2653C>T (p.Leu885Phe)	VARS1 (L885F)	Single nucleotide variant (missense variant)	Abnormal brain morphology +1 more	GConflicting classifications of pathogenicity
Select item 3188173	NM_006295.3(VARS1):c.2638A>G (p.Ile880Val)	VARS1 (I880V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2518433	NM_006295.3(VARS1):c.2626G>A (p.Val876Ile)	VARS1 (V876I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3055851	NM_006295.3(VARS1):c.2625C>T (p.Asp875=)	VARS1	Single nucleotide variant (synonymous variant)	VARS1-related disorder	GBenign
Select item 2662648	NM_006295.3(VARS1):c.2597C>G (p.Ser866Cys)	VARS1 (S866C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2691776	NM_006295.3(VARS1):c.2590_2592delinsTGA (p.Ser864Ter)	VARS1 (S864*)	Indel (nonsense)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	GLikely pathogenic
Select item 2501912	NM_006295.3(VARS1):c.2566C>G (p.Arg856Gly)	VARS1 (R856G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3188172	NM_006295.3(VARS1):c.2549A>G (p.Tyr850Cys)	VARS1 (Y850C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188171	NM_006295.3(VARS1):c.2544+4C>T	VARS1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3188170	NM_006295.3(VARS1):c.2506C>G (p.Leu836Val)	VARS1 (L836V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 561995	NM_006295.3(VARS1):c.2464G>A (p.Gly822Ser)	VARS1 (G822S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	GPathogenic
Select item 3188169	NM_006295.3(VARS1):c.2432G>C (p.Ser811Thr)	VARS1 (S811T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1697999	NM_006295.3(VARS1):c.2370G>A (p.Trp790Ter)	VARS1 (W790*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3053017	NM_006295.3(VARS1):c.2348-8TC[2]	VARS1	Microsatellite (intron variant)	VARS1-related disorder	GLikely benign
Select item 1678264	NM_006295.3(VARS1):c.2348-18A>C	VARS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3188168	NM_006295.3(VARS1):c.2282C>T (p.Ala761Val)	VARS1 (A761V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188167	NM_006295.3(VARS1):c.2273G>A (p.Arg758His)	VARS1 (R758H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3026783	NM_006295.3(VARS1):c.2272C>A (p.Arg758Ser)	VARS1 (R758S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1029027	NM_006295.3(VARS1):c.2272C>T (p.Arg758Cys)	VARS1 (R758C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	GUncertain significance
Select item 3188166	NM_006295.3(VARS1):c.2267G>C (p.Ser756Thr)	VARS1 (S756T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532814	NM_006295.3(VARS1):c.2258A>G (p.Tyr753Cys)	VARS1 (Y753C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1199212	NM_006295.3(VARS1):c.2254C>T (p.Arg752Trp)	VARS1 (R752W)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy +2 more	GUncertain significance
Select item 3188165	NM_006295.3(VARS1):c.2243A>T (p.Asp748Val)	VARS1 (D748V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188163	NM_006295.3(VARS1):c.2219_2241+49del	VARS1	Deletion (splice donor variant)	Inborn genetic diseases	GUncertain significance
Select item 1029026	NM_006295.3(VARS1):c.2230C>A (p.Pro744Thr)	VARS1 (P744T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	GUncertain significance
Select item 3188164	NM_006295.3(VARS1):c.2225C>T (p.Ala742Val)	VARS1 (A742V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601807	NM_006295.3(VARS1):c.2189G>A (p.Arg730His)	VARS1 (R730H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2637807	NM_006295.3(VARS1):c.2169G>C (p.Arg723Ser)	VARS1 (R723S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035804	NM_006295.3(VARS1):c.2150+3G>A	VARS1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3188162	NM_006295.3(VARS1):c.2143A>G (p.Asn715Asp)	VARS1 (N715D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2662923	NM_006295.3(VARS1):c.2119C>T (p.Arg707Cys)	VARS1 (R707C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3188161	NM_006295.3(VARS1):c.2111C>T (p.Ala704Val)	VARS1 (A704V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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