30563[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 150647	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1	ACOT11, ALG6 +280 more	Copy number loss	See cases	GPathogenic
Select item 59968	GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1	ACOT11, BSND +205 more	Copy number loss	See cases	GPathogenic
Select item 59969	GRCh38/hg38 1p32.3(chr1:54207426-54756958)x1	ACOT11, FAM151A +25 more	Copy number loss	See cases	GPathogenic
Select item 1189621	NM_152268.4(PARS2):c.*239T>G	PARS2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1265293	NM_152268.4(PARS2):c.*217G>A	PARS2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1205761	NM_152268.4(PARS2):c.*210C>T	PARS2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1201465	NM_152268.4(PARS2):c.*145A>G	PARS2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2081149	NM_152268.4(PARS2):c.1402T>C (p.Leu468=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1929974	NM_152268.4(PARS2):c.1370T>C (p.Val457Ala)	PARS2 (V457A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3208845	NM_152268.4(PARS2):c.1364G>A (p.Gly455Asp)	PARS2 (G455D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3304416	NM_152268.4(PARS2):c.1340T>G (p.Phe447Cys)	PARS2 (F447C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1378576	NM_152268.4(PARS2):c.1334C>T (p.Ala445Val)	PARS2 (A445V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 506539	NM_152268.4(PARS2):c.1311C>G (p.Gly437=)	PARS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 669154	NM_152268.4(PARS2):c.1305C>T (p.Ile435=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 386357	NM_152268.4(PARS2):c.1299G>A (p.Val433=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1484832	NM_152268.4(PARS2):c.1255G>A (p.Gly419Arg)	PARS2 (G419R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 384978	NM_152268.4(PARS2):c.1254C>T (p.Ile418=)	PARS2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2161752	NM_152268.4(PARS2):c.1242C>A (p.Thr414=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008948	NM_152268.4(PARS2):c.1224G>C (p.Val408=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 512919	NM_152268.4(PARS2):c.1177C>T (p.Leu393=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1711920	NM_152268.4(PARS2):c.1162G>A (p.Glu388Lys)	PARS2 (E388K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 381172	NM_152268.4(PARS2):c.1158C>T (p.Ala386=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1941853	NM_152268.4(PARS2):c.1157C>T (p.Ala386Val)	PARS2 (A386V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1223582	NM_152268.4(PARS2):c.1154C>T (p.Ala385Val)	PARS2 (A385V)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3342203	NM_152268.4(PARS2):c.1141A>G (p.Ser381Gly)	PARS2 (S381G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 183148	NM_152268.4(PARS2):c.1130dup (p.Pro377_Lys378insTer)	PARS2	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 75	GPathogenic
Select item 1500391	NM_152268.4(PARS2):c.1129C>G (p.Pro377Ala)	PARS2 (P377A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 982976	NM_152268.4(PARS2):c.1129C>T (p.Pro377Ser)	PARS2 (P377S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 75	GUncertain significance
Select item 507442	NM_152268.4(PARS2):c.1116C>T (p.Ala372=)	PARS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 998644	NM_152268.4(PARS2):c.1114G>A (p.Ala372Thr)	PARS2 (A372T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 632566	NM_152268.4(PARS2):c.1091C>G (p.Pro364Arg)	PARS2 (P364R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1648338	NM_152268.4(PARS2):c.1083C>T (p.Val361=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1395270	NM_152268.4(PARS2):c.1081_1082del (p.Val361fs)	PARS2 (V361fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 1086760	NM_152268.4(PARS2):c.1075G>T (p.Asp359Tyr)	PARS2 (D359Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2150280	NM_152268.4(PARS2):c.1070C>T (p.Thr357Ile)	PARS2 (T357I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2088394	NM_152268.4(PARS2):c.1056T>C (p.Ile352=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1694512	NM_152268.4(PARS2):c.1036C>T (p.Arg346Trp)	PARS2 (R346W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2582051	NM_152268.4(PARS2):c.1021G>A (p.Gly341Ser)	PARS2 (G341S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3208847	NM_152268.4(PARS2):c.995C>T (p.Pro332Leu)	PARS2 (P332L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519776	NM_152268.4(PARS2):c.973T>G (p.Phe325Val)	PARS2 (F325V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1916138	NM_152268.4(PARS2):c.955T>A (p.Ser319Thr)	PARS2 (S319T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342007	NM_152268.4(PARS2):c.902A>G (p.Lys301Arg)	PARS2 (K301R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2917714	NM_152268.4(PARS2):c.887A>G (p.Gln296Arg)	PARS2 (Q296R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3067934	NM_152268.4(PARS2):c.886C>T (p.Gln296Ter)	PARS2 (Q296*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 75	GLikely pathogenic
Select item 1929975	NM_152268.4(PARS2):c.876C>T (p.Cys292=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1698984	NM_152268.4(PARS2):c.874T>C (p.Cys292Arg)	PARS2 (C292R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 75 +1 more	GUncertain significance
Select item 1806505	NM_152268.4(PARS2):c.872A>G (p.Asn291Ser)	PARS2 (N291S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 520548	NM_152268.4(PARS2):c.865C>T (p.Gln289Ter)	PARS2 (Q289*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GLikely pathogenic
Select item 2127235	NM_152268.4(PARS2):c.852A>G (p.Thr284=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 380172	NM_152268.4(PARS2):c.843C>T (p.Asn281=)	PARS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 507989	NM_152268.4(PARS2):c.840C>T (p.Ala280=)	PARS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 183149	NM_152268.4(PARS2):c.836C>T (p.Ser279Leu)	PARS2 (S279L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 75 +1 more	GConflicting classifications of pathogenicity
Select item 1421663	NM_152268.4(PARS2):c.823C>T (p.Arg275Cys)	PARS2 (R275C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1484784	NM_152268.4(PARS2):c.805C>T (p.Arg269Trp)	PARS2 (R269W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2555859	NM_152268.4(PARS2):c.788T>C (p.Val263Ala)	PARS2 (V263A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2973106	NM_152268.4(PARS2):c.774G>A (p.Glu258=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2272109	NM_152268.4(PARS2):c.758G>A (p.Gly253Asp)	PARS2 (G253D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1381027	NM_152268.4(PARS2):c.754G>A (p.Gly252Arg)	PARS2 (G252R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1586747	NM_152268.4(PARS2):c.753C>T (p.Ile251=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2314621	NM_152268.4(PARS2):c.749C>T (p.Thr250Ile)	PARS2 (T250I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1964905	NM_152268.4(PARS2):c.739G>T (p.Asp247Tyr)	PARS2 (D247Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1361952	NM_152268.4(PARS2):c.739G>A (p.Asp247Asn)	PARS2 (D247N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1301816	NM_152268.4(PARS2):c.706A>G (p.Lys236Glu)	PARS2 (K236E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 380003	NM_152268.4(PARS2):c.704A>G (p.Asn235Ser)	PARS2 (N235S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1440862	NM_152268.4(PARS2):c.671G>A (p.Ser224Asn)	PARS2 (S224N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2192869	NM_152268.4(PARS2):c.642C>T (p.Ser214=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 632568	NM_152268.4(PARS2):c.607G>A (p.Glu203Lys)	PARS2 (E203K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 75	GUncertain significance
Select item 632570	NM_152268.4(PARS2):c.604C>G (p.Arg202Gly)	PARS2 (R202G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 75	GUncertain significance
Select item 2232039	NM_152268.4(PARS2):c.602G>A (p.Gly201Asp)	PARS2 (G201D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1900326	NM_152268.4(PARS2):c.599G>A (p.Arg200His)	PARS2 (R200H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2273073	NM_152268.4(PARS2):c.598C>T (p.Arg200Cys)	PARS2 (R200C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1436591	NM_152268.4(PARS2):c.584G>A (p.Arg195His)	PARS2 (R195H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1551564	NM_152268.4(PARS2):c.579G>A (p.Arg193=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2261454	NM_152268.4(PARS2):c.574C>A (p.Pro192Thr)	PARS2 (P192T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494406	NM_152268.4(PARS2):c.568G>C (p.Asp190His)	PARS2 (D190H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1191474	NM_152268.4(PARS2):c.560A>G (p.Lys187Arg)	PARS2 (K187R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1801746	NM_152268.4(PARS2):c.559A>T (p.Lys187Ter)	PARS2 (K187*)	Single nucleotide variant (nonsense)	Myoepithelial tumor	GUncertain significance
Select item 1900315	NM_152268.4(PARS2):c.557G>A (p.Arg186Lys)	PARS2 (R186K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 998656	NM_152268.4(PARS2):c.556A>G (p.Arg186Gly)	PARS2 (R186G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1602040	NM_152268.4(PARS2):c.538C>T (p.Leu180=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2134546	NM_152268.4(PARS2):c.534C>G (p.Pro178=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2335828	NM_152268.4(PARS2):c.523A>C (p.Lys175Gln)	PARS2 (K175Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2056873	NM_152268.4(PARS2):c.523A>G (p.Lys175Glu)	PARS2 (K175E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1976982	NM_152268.4(PARS2):c.519C>G (p.Ser173=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2797317	NM_152268.4(PARS2):c.516G>C (p.Leu172=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 381439	NM_152268.4(PARS2):c.489G>A (p.Thr163=)	PARS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1616329	NM_152268.4(PARS2):c.477G>A (p.Glu159=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1649673	NM_152268.4(PARS2):c.474C>T (p.His158=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2019733	NM_152268.4(PARS2):c.427A>T (p.Arg143Ter)	PARS2 (R143*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3340626	NM_152268.4(PARS2):c.401G>A (p.Trp134Ter)	PARS2 (W134*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1898261	NM_152268.4(PARS2):c.397C>T (p.Arg133Trp)	PARS2 (R133W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 489035	NM_152268.4(PARS2):c.383G>A (p.Trp128Ter)	PARS2 (W128*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2422032	NM_152268.4(PARS2):c.371C>T (p.Pro124Leu)	PARS2 (P124L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1446139	NM_152268.4(PARS2):c.368G>T (p.Ser123Ile)	PARS2 (S123I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2079193	NM_152268.4(PARS2):c.366C>T (p.Leu122=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 983148	NM_152268.4(PARS2):c.340G>A (p.Gly114Ser)	PARS2 (G114S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 75	GUncertain significance
Select item 1910028	NM_152268.4(PARS2):c.339G>C (p.Gly113=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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