6342[geneid] - 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 1190574	NC_000001.11:g.52926925G>T	SCP2	Single nucleotide variant	not provided	GLikely benign
Select item 1235854	NC_000001.11:g.52927236A>G	LOC129930558, SCP2	Single nucleotide variant	not provided	GBenign
Select item 1296645	NM_002979.5(SCP2):c.-80A>T	LOC129930558, SCP2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1227815	NM_002979.5(SCP2):c.-57C>T	SCP2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2068347	NM_002979.5(SCP2):c.2T>C (p.Met1Thr)	SCP2 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1483727	NM_002979.5(SCP2):c.5C>T (p.Ser2Phe)	SCP2 (S2F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2001063	NM_002979.5(SCP2):c.6C>G (p.Ser2=)	SCP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1471293	NM_002979.5(SCP2):c.8C>T (p.Ser3Phe)	SCP2 (S3F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1477615	NM_002979.5(SCP2):c.11C>G (p.Ser4Cys)	SCP2 (S4C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2097480	NM_002979.5(SCP2):c.13C>A (p.Pro5Thr)	SCP2 (P5T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 595570	NM_002979.5(SCP2):c.13C>G (p.Pro5Ala)	SCP2 (P5A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2000819	NM_002979.5(SCP2):c.14C>T (p.Pro5Leu)	SCP2 (P5L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 596443	NM_002979.5(SCP2):c.15G>T (p.Pro5=)	SCP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1659928	NM_002979.5(SCP2):c.21G>A (p.Glu7=)	SCP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2602482	NM_002979.5(SCP2):c.22C>G (p.Pro8Ala)	SCP2 (P8A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1479392	NM_002979.5(SCP2):c.35G>T (p.Arg12Leu)	SCP2 (R12L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1496077	NM_002979.5(SCP2):c.38G>A (p.Arg13Gln)	SCP2 (R13Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2060975	NM_002979.5(SCP2):c.40G>C (p.Val14Leu)	SCP2 (V14L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1901842	NM_002979.5(SCP2):c.41T>C (p.Val14Ala)	SCP2 (V14A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 839307	NM_002979.5(SCP2):c.55G>C (p.Val19Leu)	SCP2 (V19L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1475368	NM_002979.5(SCP2):c.57T>A (p.Val19=)	SCP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1996240	NM_002979.5(SCP2):c.62T>G (p.Met21Arg)	SCP2 (M21R)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3036323	NM_002979.5(SCP2):c.67A>C (p.Lys23Gln)	SCP2 (K23Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1537295	NM_002979.5(SCP2):c.69+7C>A	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1632502	NM_002979.5(SCP2):c.69+10G>A	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2819441	NM_002979.5(SCP2):c.69+12A>T	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2052889	NM_002979.5(SCP2):c.69+13G>A	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1563869	NM_002979.5(SCP2):c.69+14C>T	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1660745	NM_002979.5(SCP2):c.69+15G>T	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2034768	NM_002979.5(SCP2):c.69+16G>A	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1647703	NM_002979.5(SCP2):c.69+18C>G	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1535841	NM_002979.5(SCP2):c.69+18C>T	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219752	NM_002979.5(SCP2):c.70-278_70-277insCT	SCP2	Insertion (intron variant)	not provided	GLikely benign
Select item 1199502	NM_002979.5(SCP2):c.70-277A>G	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227208	NM_002979.5(SCP2):c.70-200A>G	SCP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174397	NM_002979.5(SCP2):c.70-66G>A	SCP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1687664	NM_002979.5(SCP2):c.70-48_70-47dup	SCP2	Duplication (intron variant)	not provided	GLikely benign
Select item 1262646	NM_002979.5(SCP2):c.70-50_70-47dup	SCP2	Duplication (intron variant)	not provided	GBenign
Select item 1197564	NM_002979.5(SCP2):c.70-47dup	SCP2	Duplication (intron variant)	not provided	GLikely benign
Select item 801491	NM_002979.5(SCP2):c.70-47del	SCP2	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1187530	NM_002979.5(SCP2):c.70-46T>A	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1645395	NM_002979.5(SCP2):c.70-10A>G	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1920857	NM_002979.5(SCP2):c.73G>T (p.Val25Leu)	SCP2 (V25L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1374591	NM_002979.5(SCP2):c.103_125dup (p.Gly43fs)	SCP2 (G43fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1632809	NM_002979.5(SCP2):c.102C>T (p.Asp34=)	SCP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1443210	NM_002979.5(SCP2):c.104A>G (p.Tyr35Cys)	SCP2 (Y35C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1920480	NM_002979.5(SCP2):c.111C>A (p.Asp37Glu)	SCP2 (D37E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1410936	NM_002979.5(SCP2):c.124G>A (p.Ala42Thr)	SCP2 (A42T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2155314	NM_002979.5(SCP2):c.127+2T>C	SCP2	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 2021426	NM_002979.5(SCP2):c.127+8A>G	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1584263	NM_002979.5(SCP2):c.127+14T>C	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220469	NM_002979.5(SCP2):c.127+63A>G	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971562	NM_002979.5(SCP2):c.128-15C>G	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1535541	NM_002979.5(SCP2):c.128-11C>T	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 695702	NM_002979.5(SCP2):c.128-10G>A	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1994416	NM_002979.5(SCP2):c.128-9T>C	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1412380	NM_002979.5(SCP2):c.128G>A (p.Gly43Asp)	SCP2 (G43D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1505209	NM_002979.5(SCP2):c.134A>G (p.Lys45Arg)	SCP2 (K45R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1647977	NM_002979.5(SCP2):c.135G>A (p.Lys45=)	SCP2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1368715	NM_002979.5(SCP2):c.136G>A (p.Ala46Thr)	SCP2 (A46T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1396897	NM_002979.5(SCP2):c.137C>T (p.Ala46Val)	SCP2 (A46V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3347402	NM_002979.5(SCP2):c.146A>G (p.Asp49Gly)	SCP2 (D49G)	Single nucleotide variant (missense variant +2 more)	SCP2-related disorder	GUncertain significance
Select item 2761715	NM_002979.5(SCP2):c.151C>T (p.Gln51Ter)	SCP2 (Q51*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 595963	NM_002979.5(SCP2):c.157C>T (p.Pro53Ser)	SCP2 (P53S)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 2026825	NM_002979.5(SCP2):c.165A>G (p.Ser55=)	SCP2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1492565	NM_002979.5(SCP2):c.167C>T (p.Ala56Val)	SCP2 (A56V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1348605	NM_002979.5(SCP2):c.176A>G (p.Gln59Arg)	SCP2 (Q59R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1693921	NM_002979.5(SCP2):c.191_192del (p.Tyr64fs)	SCP2 (Y64fs)	Deletion (frameshift variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 523456	NM_002979.5(SCP2):c.199G>A (p.Gly67Ser)	SCP2 (G67S)	Single nucleotide variant (missense variant +2 more)	Leukodystrophy	GUncertain significance
Select item 1405506	NM_002979.5(SCP2):c.199+4T>C	SCP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3002180	NM_002979.5(SCP2):c.199+10A>G	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965291	NM_002979.5(SCP2):c.199+14TG[3]	SCP2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2780590	NM_002979.5(SCP2):c.199+17G>A	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253737	NM_002979.5(SCP2):c.200-45C>G	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2110537	NM_002979.5(SCP2):c.200-15T>G	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1614674	NM_002979.5(SCP2):c.200-6A>G	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2011703	NM_002979.5(SCP2):c.200-5T>C	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 806138	NM_002979.5(SCP2):c.203A>G (p.Asp68Gly)	SCP2 (D68G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3316667	NM_002979.5(SCP2):c.209C>T (p.Thr70Ile)	SCP2 (T46I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1471727	NM_002979.5(SCP2):c.215G>A (p.Gly72Glu)	SCP2 (G72E +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1361704	NM_002979.5(SCP2):c.220A>T (p.Arg74Trp)	SCP2 (R50W +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2059273	NM_002979.5(SCP2):c.229_232del (p.Tyr77fs)	SCP2 (Y53fs +1 more)	Microsatellite (frameshift variant +2 more)	not provided	GPathogenic
Select item 1512271	NM_002979.5(SCP2):c.230A>G (p.Tyr77Cys)	SCP2 (Y53C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2974663	NM_002979.5(SCP2):c.238T>C (p.Leu80=)	SCP2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1992484	NM_002979.5(SCP2):c.250G>A (p.Gly84Arg)	SCP2 (G3R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1411009	NM_002979.5(SCP2):c.278A>G (p.Asn93Ser)	SCP2 (N69S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2026119	NM_002979.5(SCP2):c.291T>G (p.Gly97=)	SCP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1996617	NM_002979.5(SCP2):c.296C>T (p.Thr99Ile)	SCP2 (T99I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1367784	NM_002979.5(SCP2):c.303G>T (p.Leu101Phe)	SCP2 (L101F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2007648	NM_002979.5(SCP2):c.313dup (p.Arg105fs)	SCP2 (R81fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1490403	NM_002979.5(SCP2):c.310G>A (p.Ala104Thr)	SCP2 (A104T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1485422	NM_002979.5(SCP2):c.313C>T (p.Arg105Cys)	SCP2 (R105C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2995303	NM_002979.5(SCP2):c.321G>A (p.Leu107=)	SCP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3349461	NM_002979.5(SCP2):c.324T>A (p.Ile108=)	SCP2	Single nucleotide variant (synonymous variant +1 more)	SCP2-related disorder	GLikely benign
Select item 1375705	NM_002979.5(SCP2):c.325C>T (p.Gln109Ter)	SCP2 (Q28* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2106111	NM_002979.5(SCP2):c.328G>T (p.Gly110Cys)	SCP2 (G29C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1969355	NM_002979.5(SCP2):c.331+13del	SCP2	Deletion (intron variant)	not provided	GLikely benign

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