6536[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 59966	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	ARTN, ATP6V0B +279 more	Copy number loss	See cases	GPathogenic
Select item 57093	GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1	ARTN, ATP6V0B +253 more	Copy number loss	See cases	GPathogenic
Select item 154514	GRCh38/hg38 1p34.1(chr1:43896056-44867736)x3	ARMH1, ARTN +88 more	Copy number gain	See cases	GUncertain significance
Select item 1242659	NM_001024845.3(SLC6A9):c.*47C>T	SLC6A9	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1240974	NM_001024845.3(SLC6A9):c.*13G>A	SLC6A9	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2171173	NM_001024845.3(SLC6A9):c.1894C>T (p.Arg632Trp)	SLC6A9 (R567W +7 more)	Single nucleotide variant (missense variant +1 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 1987730	NM_001024845.3(SLC6A9):c.1891T>G (p.Ser631Ala)	SLC6A9 (S610A +7 more)	Single nucleotide variant (missense variant +1 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 2788542	NM_001024845.3(SLC6A9):c.1887G>A (p.Gln629=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	Atypical glycine encephalopathy	GLikely benign
Select item 2409177	NM_001024845.3(SLC6A9):c.1880G>A (p.Arg627His)	SLC6A9 (R606H +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3445068	NM_001024845.3(SLC6A9):c.1879C>T (p.Arg627Cys)	SLC6A9 (R562C +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2099475	NM_001024845.3(SLC6A9):c.1871_1877del (p.Gly624fs)	SLC6A9 (G559fs +7 more)	Deletion (frameshift variant +1 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 2140965	NM_001024845.3(SLC6A9):c.1875C>T (p.Ser625=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	Atypical glycine encephalopathy	GBenign
Select item 3388251	NM_001024845.3(SLC6A9):c.1869T>C (p.Asn623=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 716273	NM_001024845.3(SLC6A9):c.1866T>C (p.Ser622=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	Atypical glycine encephalopathy	GBenign
Select item 2085730	NM_001024845.3(SLC6A9):c.1865G>T (p.Ser622Ile)	SLC6A9 (S641I +7 more)	Single nucleotide variant (missense variant +1 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 2159637	NM_001024845.3(SLC6A9):c.1862G>A (p.Gly621Asp)	SLC6A9 (G625D +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1908821	NM_001024845.3(SLC6A9):c.1860G>T (p.Val620=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	Atypical glycine encephalopathy	GLikely benign
Select item 3378042	NM_001024845.3(SLC6A9):c.1856T>A (p.Ile619Asn)	SLC6A9 (I451N +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1591143	NM_001024845.3(SLC6A9):c.1845G>A (p.Ala615=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	Atypical glycine encephalopathy	GLikely benign
Select item 1415119	NM_001024845.3(SLC6A9):c.1844C>T (p.Ala615Val)	SLC6A9 (A504V +7 more)	Single nucleotide variant (missense variant +1 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 3445064	NM_001024845.3(SLC6A9):c.1843G>T (p.Ala615Ser)	SLC6A9 (A550S +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1359347	NM_001024845.3(SLC6A9):c.1835C>T (p.Pro612Leu)	SLC6A9 (P501L +7 more)	Single nucleotide variant (missense variant +1 more)	Atypical glycine encephalopathy +1 more	GUncertain significance
Select item 2635524	NM_001024845.3(SLC6A9):c.1833C>A (p.His611Gln)	SLC6A9 (H443Q +7 more)	Single nucleotide variant (missense variant +1 more)	SLC6A9-related disorder	GUncertain significance
Select item 2615537	NM_001024845.3(SLC6A9):c.1824G>C (p.Gln608His)	SLC6A9 (Q440H +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2072587	NM_001024845.3(SLC6A9):c.1820T>A (p.Val607Asp)	SLC6A9 (V542D +7 more)	Single nucleotide variant (missense variant +1 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 1956938	NM_001024845.3(SLC6A9):c.1820T>G (p.Val607Gly)	SLC6A9 (V439G +7 more)	Single nucleotide variant (missense variant +1 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 1561441	NM_001024845.3(SLC6A9):c.1815C>T (p.Phe605=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	Atypical glycine encephalopathy	GLikely benign
Select item 1448320	NM_001024845.3(SLC6A9):c.1811G>T (p.Gly604Val)	SLC6A9 (G493V +7 more)	Single nucleotide variant (missense variant +1 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 719042	NM_001024845.3(SLC6A9):c.1810G>A (p.Gly604Ser)	SLC6A9 (G493S +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2197932	NM_001024845.3(SLC6A9):c.1809C>T (p.Asp603=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	Atypical glycine encephalopathy	GLikely benign
Select item 2108331	NM_001024845.3(SLC6A9):c.1787C>T (p.Thr596Ile)	SLC6A9 (T600I +7 more)	Single nucleotide variant (missense variant +1 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 2808298	NM_001024845.3(SLC6A9):c.1785C>T (p.Pro595=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	Atypical glycine encephalopathy	GLikely benign
Select item 1368935	NM_001024845.3(SLC6A9):c.1780G>A (p.Ala594Thr)	SLC6A9 (A426T +7 more)	Single nucleotide variant (missense variant +1 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 3320167	NM_001024845.3(SLC6A9):c.1774C>T (p.Arg592Cys)	SLC6A9 (R592C +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2258942	NM_001024845.3(SLC6A9):c.1735A>G (p.Arg579Gly)	SLC6A9 (R468G +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 733055	NM_001024845.3(SLC6A9):c.1721C>T (p.Ala574Val)	SLC6A9 (A463V +7 more)	Single nucleotide variant (missense variant +1 more)	Atypical glycine encephalopathy	GConflicting classifications of pathogenicity
Select item 1504629	NM_001024845.3(SLC6A9):c.1709G>A (p.Arg570His)	SLC6A9 (R549H +7 more)	Single nucleotide variant (missense variant +1 more)	Atypical glycine encephalopathy +1 more	GUncertain significance
Select item 2070031	NM_001024845.3(SLC6A9):c.1708-5T>C	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy	GLikely benign
Select item 1469036	NM_001024845.3(SLC6A9):c.1702C>T (p.Leu568Phe)	SLC6A9 (L568F +6 more)	Single nucleotide variant (missense variant +2 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 1396495	NM_001024845.3(SLC6A9):c.1697C>A (p.Thr566Asn)	SLC6A9 (T566N +6 more)	Single nucleotide variant (missense variant +2 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 1404356	NM_001024845.3(SLC6A9):c.1685C>T (p.Thr562Ile)	SLC6A9 (T451I +6 more)	Single nucleotide variant (missense variant +2 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 1983883	NM_001024845.3(SLC6A9):c.1682G>A (p.Arg561His)	SLC6A9 (R561H +6 more)	Single nucleotide variant (missense variant +2 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 3165499	NM_001024845.3(SLC6A9):c.1673G>A (p.Arg558Gln)	SLC6A9 (R537Q +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 736350	NM_001024845.3(SLC6A9):c.1662C>T (p.Tyr554=)	SLC6A9	Single nucleotide variant (synonymous variant +2 more)	Atypical glycine encephalopathy	GLikely benign
Select item 2141577	NM_001024845.3(SLC6A9):c.1656C>T (p.Pro552=)	SLC6A9	Single nucleotide variant (synonymous variant +2 more)	Atypical glycine encephalopathy	GLikely benign
Select item 735203	NM_001024845.3(SLC6A9):c.1653C>T (p.Ile551=)	SLC6A9	Single nucleotide variant (synonymous variant +2 more)	Atypical glycine encephalopathy +1 more	GLikely benign
Select item 3165498	NM_001024845.3(SLC6A9):c.1642G>A (p.Val548Ile)	SLC6A9 (V437I +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 788305	NM_001024845.3(SLC6A9):c.1641C>T (p.Ser547=)	SLC6A9	Single nucleotide variant (synonymous variant +2 more)	Atypical glycine encephalopathy	GBenign
Select item 743935	NM_001024845.3(SLC6A9):c.1620C>G (p.Gly540=)	SLC6A9	Single nucleotide variant (synonymous variant +2 more)	Atypical glycine encephalopathy	GLikely benign
Select item 1497922	NM_001024845.3(SLC6A9):c.1613C>T (p.Ala538Val)	SLC6A9 (A427V +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2382875	NM_001024845.3(SLC6A9):c.1609G>A (p.Val537Met)	SLC6A9 (V541M +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1007399	NM_001024845.3(SLC6A9):c.1602C>T (p.Gly534=)	SLC6A9	Single nucleotide variant (synonymous variant +2 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 1575797	NM_001024845.3(SLC6A9):c.1572G>A (p.Pro524=)	SLC6A9	Single nucleotide variant (synonymous variant +2 more)	Atypical glycine encephalopathy	GLikely benign
Select item 3378043	NM_001024845.3(SLC6A9):c.1571C>T (p.Pro524Leu)	SLC6A9 (P413L +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 743309	NM_001024845.3(SLC6A9):c.1543C>T (p.Leu515=)	SLC6A9	Single nucleotide variant (synonymous variant +2 more)	Atypical glycine encephalopathy	GLikely benign
Select item 3341411	NM_001024845.3(SLC6A9):c.1537-1_1538dup	SLC6A9	Duplication (intron variant +1 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 2881302	NM_001024845.3(SLC6A9):c.1537-6G>T	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy	GLikely benign
Select item 476371	NM_001024845.3(SLC6A9):c.1537-6G>A	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy	GBenign
Select item 1634105	NM_001024845.3(SLC6A9):c.1537-8C>T	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy	GLikely benign
Select item 1352106	NM_001024845.3(SLC6A9):c.1537-9C>G	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy	GLikely benign
Select item 2840254	NM_001024845.3(SLC6A9):c.1537-14C>T	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy	GLikely benign
Select item 2194008	NM_001024845.3(SLC6A9):c.1537-16C>T	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy	GLikely benign
Select item 1548792	NM_001024845.3(SLC6A9):c.1537-17A>G	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy	GBenign
Select item 1248941	NM_001024845.3(SLC6A9):c.1537-191A>G	SLC6A9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1599526	NM_001024845.3(SLC6A9):c.1536+11_1536+30del	SLC6A9	Deletion (intron variant)	Atypical glycine encephalopathy	GBenign
Select item 1609558	NM_001024845.3(SLC6A9):c.1536+9C>T	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy	GLikely benign
Select item 2573356	NM_001024845.3(SLC6A9):c.1536+1G>A	SLC6A9	Single nucleotide variant (splice donor variant)	Atypical glycine encephalopathy	GLikely pathogenic
Select item 1699386	NM_001024845.3(SLC6A9):c.1525_1526del (p.Ala509fs)	SLC6A9 (A398fs +6 more)	Deletion (frameshift variant +1 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 2065839	NM_001024845.3(SLC6A9):c.1524C>T (p.Pro508=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	Atypical glycine encephalopathy	GLikely benign
Select item 3445065	NM_001024845.3(SLC6A9):c.1515C>T (p.Phe505=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1448856	NM_001024845.3(SLC6A9):c.1511G>A (p.Arg504His)	SLC6A9 (R483H +6 more)	Single nucleotide variant (missense variant +1 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 374987	NM_001024845.3(SLC6A9):c.1498C>T (p.Gln500Ter)	SLC6A9 (Q573* +6 more)	Single nucleotide variant (nonsense +1 more)	Atypical glycine encephalopathy	GPathogenic
Select item 446106	NM_001024845.3(SLC6A9):c.1492_1493del (p.Phe498fs)	SLC6A9 (F433fs +6 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2613343	NM_001024845.3(SLC6A9):c.1489C>T (p.Leu497Phe)	SLC6A9 (L386F +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1417159	NM_001024845.3(SLC6A9):c.1442G>A (p.Arg481Gln)	SLC6A9 (R370Q +6 more)	Single nucleotide variant (missense variant +1 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 1369503	NM_001024845.3(SLC6A9):c.1441C>T (p.Arg481Trp)	SLC6A9 (R416W +6 more)	Single nucleotide variant (missense variant +1 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 2909902	NM_001024845.3(SLC6A9):c.1437G>C (p.Gly479=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	Atypical glycine encephalopathy	GLikely benign
Select item 2158865	NM_001024845.3(SLC6A9):c.1436-11dup	SLC6A9	Duplication (intron variant)	Atypical glycine encephalopathy	GBenign
Select item 1179904	NM_001024845.3(SLC6A9):c.1435+22C>T	SLC6A9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2139221	NM_001024845.3(SLC6A9):c.1435+19G>T	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy	GLikely benign
Select item 1167891	NM_001024845.3(SLC6A9):c.1435+19G>A	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy	GBenign
Select item 1165144	NM_001024845.3(SLC6A9):c.1435+18C>T	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy +1 more	GBenign
Select item 1579053	NM_001024845.3(SLC6A9):c.1435+10C>T	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy	GLikely benign
Select item 1011843	NM_001024845.3(SLC6A9):c.1435G>A (p.Gly479Arg)	SLC6A9 (G368R +6 more)	Single nucleotide variant (missense variant +1 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 2068008	NM_001024845.3(SLC6A9):c.1434C>T (p.Tyr478=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 1353549	NM_001024845.3(SLC6A9):c.1424T>C (p.Met475Thr)	SLC6A9 (M364T +6 more)	Single nucleotide variant (missense variant +1 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 2634075	NM_001024845.3(SLC6A9):c.1403G>C (p.Cys468Ser)	SLC6A9 (C357S +6 more)	Single nucleotide variant (missense variant +1 more)	SLC6A9-related disorder	GUncertain significance
Select item 1015814	NM_001024845.3(SLC6A9):c.1381T>G (p.Phe461Val)	SLC6A9 (F350V +6 more)	Single nucleotide variant (missense variant +1 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 3014873	NM_001024845.3(SLC6A9):c.1380C>T (p.Ser460=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	Atypical glycine encephalopathy	GLikely benign
Select item 740605	NM_001024845.3(SLC6A9):c.1374G>A (p.Ala458=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	Atypical glycine encephalopathy	GLikely benign
Select item 1646979	NM_001024845.3(SLC6A9):c.1336-9G>A	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy	GLikely benign
Select item 1573425	NM_001024845.3(SLC6A9):c.1336-12G>A	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy	GLikely benign
Select item 1919148	NM_001024845.3(SLC6A9):c.1335+16G>A	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy	GLikely benign
Select item 2200280	NM_001024845.3(SLC6A9):c.1335+12G>A	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy	GLikely benign
Select item 1362739	NM_001024845.3(SLC6A9):c.1335+11C>T	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy	GLikely benign
Select item 1581598	NM_001024845.3(SLC6A9):c.1311G>C (p.Leu437=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	Atypical glycine encephalopathy	GLikely benign
Select item 1590891	NM_001024845.3(SLC6A9):c.1290C>T (p.Gly430=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 3341410	NM_001024845.3(SLC6A9):c.1274C>A (p.Thr425Asn)	SLC6A9 (T314N +6 more)	Single nucleotide variant (missense variant +1 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 1593646	NM_001024845.3(SLC6A9):c.1245G>A (p.Val415=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	Atypical glycine encephalopathy	GLikely benign

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