ClinVar for MedGen (Select 6723) - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068219	NM_001003841.3(SLC6A19):c.1539G>T (p.Arg513Ser)	SLC6A19 (R513S)	Single nucleotide variant (missense variant)	Neutral 1 amino acid transport defect	GUncertain significance
Select item 2503943	NM_001003841.3(SLC6A19):c.169C>T (p.Arg57Cys)	SLC6A19 (R57C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2500902	NM_001003841.3(SLC6A19):c.1169C>G (p.Ser390Ter)	SLC6A19 (S390*)	Single nucleotide variant (nonsense)	Neutral 1 amino acid transport defect	GLikely pathogenic
Select item 2431061	NM_001003841.3(SLC6A19):c.311G>A (p.Trp104Ter)	SLC6A19 (W104*)	Single nucleotide variant (nonsense)	Neutral 1 amino acid transport defect	GLikely pathogenic
Select item 2430279	NM_001003841.3(SLC6A19):c.170G>A (p.Arg57His)	SLC6A19 (R57H)	Single nucleotide variant (missense variant)	Neutral 1 amino acid transport defect	GLikely pathogenic
Select item 1705051	NM_001003841.3(SLC6A19):c.1550A>G (p.Asp517Gly)	SLC6A19 (D517G)	Single nucleotide variant (missense variant)	Neutral 1 amino acid transport defect	GLikely pathogenic
Select item 1679576	NM_001003841.3(SLC6A19):c.1019A>T (p.Asn340Ile)	SLC6A19 (N340I)	Single nucleotide variant (missense variant)	Neutral 1 amino acid transport defect	GUncertain significance
Select item 1669404	NM_001003841.3(SLC6A19):c.1431C>T (p.Ser477=)	SLC6A19	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1658771	NM_001003841.3(SLC6A19):c.684G>A (p.Thr228=)	SLC6A19	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1642269	NM_001003841.3(SLC6A19):c.1284G>C (p.Gly428=)	SLC6A19	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1640835	NM_001003841.3(SLC6A19):c.1554C>T (p.Ile518=)	SLC6A19	Single nucleotide variant (synonymous variant)	Hyperglycinuria +3 more	GLikely benign
Select item 1639519	NM_001003841.3(SLC6A19):c.1173+20C>T	SLC6A19	Single nucleotide variant (intron variant)	Hyperglycinuria +3 more	GLikely benign
Select item 1634623	NM_001003841.3(SLC6A19):c.1539-20G>C	SLC6A19	Single nucleotide variant (intron variant)	Iminoglycinuria +3 more	GLikely benign
Select item 1633250	NM_001003841.3(SLC6A19):c.1701+18C>T	SLC6A19	Single nucleotide variant (intron variant)	Iminoglycinuria +3 more	GLikely benign
Select item 1630744	NM_001003841.3(SLC6A19):c.481+12C>G	SLC6A19	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 1626793	NM_001003841.3(SLC6A19):c.1599G>A (p.Thr533=)	SLC6A19	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1621309	NM_001003841.3(SLC6A19):c.202+12G>A	SLC6A19	Single nucleotide variant (intron variant)	Neutral 1 amino acid transport defect +3 more	GLikely benign
Select item 1615149	NM_001003841.3(SLC6A19):c.1596C>T (p.Val532=)	SLC6A19	Single nucleotide variant (synonymous variant)	Iminoglycinuria +3 more	GLikely benign
Select item 1599936	NM_001003841.3(SLC6A19):c.343+11C>T	SLC6A19	Single nucleotide variant (intron variant)	Hyperglycinuria +3 more	GBenign/Likely benign
Select item 1581688	NM_001003841.3(SLC6A19):c.195C>T (p.His65=)	SLC6A19	Single nucleotide variant (synonymous variant)	SLC6A19-related disorder +4 more	GLikely benign
Select item 1577649	NM_001003841.3(SLC6A19):c.775-4G>A	SLC6A19	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1575404	NM_001003841.3(SLC6A19):c.887+8C>T	SLC6A19	Single nucleotide variant (intron variant)	Hyperglycinuria +3 more	GLikely benign
Select item 1561822	NM_001003841.3(SLC6A19):c.1485C>T (p.Leu495=)	SLC6A19	Single nucleotide variant (synonymous variant)	Neutral 1 amino acid transport defect +3 more	GLikely benign
Select item 1558817	NM_001003841.3(SLC6A19):c.657C>T (p.Thr219=)	SLC6A19	Single nucleotide variant (synonymous variant)	Iminoglycinuria +3 more	GLikely benign
Select item 1536313	NM_001003841.3(SLC6A19):c.849C>T (p.Phe283=)	SLC6A19	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1529487	NM_001003841.3(SLC6A19):c.48G>A (p.Pro16=)	SLC6A19	Single nucleotide variant (synonymous variant)	Hyperglycinuria +3 more	GBenign/Likely benign
Select item 1517264	NM_001003841.3(SLC6A19):c.98C>T (p.Pro33Leu)	SLC6A19 (P33L)	Single nucleotide variant (missense variant)	Neutral 1 amino acid transport defect +3 more	GUncertain significance
Select item 1516499	NM_001003841.3(SLC6A19):c.985G>A (p.Ala329Thr)	SLC6A19 (A329T)	Single nucleotide variant (missense variant)	Neutral 1 amino acid transport defect +3 more	GUncertain significance
Select item 1514953	NM_001003841.3(SLC6A19):c.1545T>A (p.Asn515Lys)	SLC6A19 (N515K)	Single nucleotide variant (missense variant)	Neutral 1 amino acid transport defect +4 more	GUncertain significance
Select item 1513911	NM_001003841.3(SLC6A19):c.1244T>C (p.Leu415Pro)	SLC6A19 (L415P)	Single nucleotide variant (missense variant)	Neutral 1 amino acid transport defect +3 more	GUncertain significance
Select item 1512858	NM_001003841.3(SLC6A19):c.1325C>A (p.Pro442His)	SLC6A19 (P442H)	Single nucleotide variant (missense variant)	Hyperglycinuria +3 more	GUncertain significance
Select item 1484107	NM_001003841.3(SLC6A19):c.502A>G (p.Arg168Gly)	SLC6A19 (R168G)	Single nucleotide variant (missense variant)	Hyperglycinuria +3 more	GUncertain significance
Select item 1482946	NM_001003841.3(SLC6A19):c.683C>T (p.Thr228Met)	SLC6A19 (T228M)	Single nucleotide variant (missense variant)	Hyperglycinuria +3 more	GUncertain significance
Select item 1481259	NM_001003841.3(SLC6A19):c.1451T>C (p.Leu484Pro)	SLC6A19 (L484P)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1476735	NM_001003841.3(SLC6A19):c.688C>T (p.Pro230Ser)	SLC6A19 (P230S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1474965	NM_001003841.3(SLC6A19):c.125T>C (p.Met42Thr)	SLC6A19 (M42T)	Single nucleotide variant (missense variant)	Neutral 1 amino acid transport defect +3 more	GUncertain significance
Select item 1429377	NM_001003841.3(SLC6A19):c.641G>A (p.Arg214His)	SLC6A19 (R214H)	Single nucleotide variant (missense variant)	Iminoglycinuria +3 more	GUncertain significance
Select item 1421821	NM_001003841.3(SLC6A19):c.1097G>A (p.Arg366Gln)	SLC6A19 (R366Q)	Single nucleotide variant (missense variant)	Hyperglycinuria +3 more	GUncertain significance
Select item 1418017	NM_001003841.3(SLC6A19):c.640C>G (p.Arg214Gly)	SLC6A19 (R214G)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1415571	NM_001003841.3(SLC6A19):c.95G>A (p.Arg32Gln)	SLC6A19 (R32Q)	Single nucleotide variant (missense variant)	Hyperglycinuria +3 more	GUncertain significance
Select item 1406147	NM_001003841.3(SLC6A19):c.1003G>A (p.Asp335Asn)	SLC6A19 (D335N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1380307	NM_001003841.3(SLC6A19):c.293G>A (p.Arg98Gln)	SLC6A19 (R98Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1375099	NM_001003841.3(SLC6A19):c.1522G>A (p.Val508Met)	SLC6A19 (V508M)	Single nucleotide variant (missense variant)	Hyperglycinuria +3 more	GUncertain significance
Select item 1371534	NM_001003841.3(SLC6A19):c.767C>T (p.Thr256Met)	SLC6A19 (T256M)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1358021	NM_001003841.3(SLC6A19):c.292C>T (p.Arg98Trp)	SLC6A19 (R98W)	Single nucleotide variant (missense variant)	Neutral 1 amino acid transport defect +3 more	GUncertain significance
Select item 1348032	NM_001003841.3(SLC6A19):c.697G>A (p.Val233Ile)	SLC6A19 (V233I)	Single nucleotide variant (missense variant)	Iminoglycinuria +3 more	GUncertain significance
Select item 1342182	NM_001003841.3(SLC6A19):c.284G>A (p.Arg95Gln)	SLC6A19 (R95Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1221169	NM_001003841.3(SLC6A19):c.663+48C>T	SLC6A19	Single nucleotide variant (intron variant)	Neutral 1 amino acid transport defect +2 more	GBenign
Select item 1185326	NM_001003841.3(SLC6A19):c.1539-67T>C	SLC6A19	Single nucleotide variant (intron variant)	Neutral 1 amino acid transport defect +1 more	GBenign
Select item 1185325	NM_001003841.3(SLC6A19):c.1538+80C>T	SLC6A19	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185324	NM_001003841.3(SLC6A19):c.1538+95G>A	SLC6A19	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185323	NM_001003841.3(SLC6A19):c.887+84A>G	SLC6A19	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1174952	NM_001003841.3(SLC6A19):c.774+1G>A	SLC6A19	Single nucleotide variant (splice donor variant)	Neutral 1 amino acid transport defect +2 more	GLikely pathogenic
Select item 1050258	NM_001003841.3(SLC6A19):c.887+9G>A	SLC6A19	Single nucleotide variant (intron variant)	Neutral 1 amino acid transport defect +2 more	GUncertain significance
Select item 1031693	NM_001003841.3(SLC6A19):c.539C>T (p.Thr180Met)	SLC6A19 (T180M)	Single nucleotide variant (missense variant)	Neutral 1 amino acid transport defect +3 more	GUncertain significance
Select item 996997	NM_001003841.3(SLC6A19):c.1606G>A (p.Val536Met)	SLC6A19 (V536M)	Single nucleotide variant (missense variant)	Neutral 1 amino acid transport defect +1 more	GConflicting classifications of pathogenicity
Select item 973486	NM_001003841.3(SLC6A19):c.712C>T (p.Leu238Phe)	SLC6A19 (L238F)	Single nucleotide variant (missense variant)	Hyperglycinuria +2 more	GUncertain significance
Select item 973458	NM_001003841.3(SLC6A19):c.1603C>T (p.Arg535Cys)	SLC6A19 (R535C)	Single nucleotide variant (missense variant)	Hyperglycinuria +3 more	GUncertain significance
Select item 931106	NM_001003841.3(SLC6A19):c.1468G>A (p.Gly490Ser)	SLC6A19 (G490S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 917714	NM_001003841.3(SLC6A19):c.532C>T (p.Arg178Ter)	SLC6A19 (R178*)	Single nucleotide variant (nonsense)	SLC6A19-related disorder +4 more	GPathogenic
Select item 916044	NM_001003841.3(SLC6A19):c.1787_1788insG (p.Ile597fs)	SLC6A19 (I597fs)	Insertion (frameshift variant)	Neutral 1 amino acid transport defect	GPathogenic
Select item 916043	NM_001003841.3(SLC6A19):c.908C>T (p.Ser303Leu)	SLC6A19 (S303L)	Single nucleotide variant (missense variant)	Neutral 1 amino acid transport defect +1 more	GUncertain significance
Select item 791252	NM_001003841.3(SLC6A19):c.966C>T (p.Tyr322=)	SLC6A19	Single nucleotide variant (synonymous variant)	Neutral 1 amino acid transport defect +3 more	GBenign/Likely benign
Select item 790831	NM_001003841.3(SLC6A19):c.1302G>A (p.Gly434=)	SLC6A19	Single nucleotide variant (synonymous variant)	Hyperglycinuria +3 more	GLikely benign
Select item 779881	NM_001003841.3(SLC6A19):c.558C>T (p.Ser186=)	SLC6A19	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 767990	NM_001003841.3(SLC6A19):c.117G>A (p.Ala39=)	SLC6A19	Single nucleotide variant (synonymous variant)	SLC6A19-related disorder +4 more	GBenign/Likely benign
Select item 757543	NM_001003841.3(SLC6A19):c.774+10C>T	SLC6A19	Single nucleotide variant (intron variant)	Neutral 1 amino acid transport defect +3 more	GLikely benign
Select item 739047	NM_001003841.3(SLC6A19):c.162C>T (p.Asn54=)	SLC6A19	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 735845	NM_001003841.3(SLC6A19):c.1521C>T (p.Tyr507=)	SLC6A19	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 735706	NM_001003841.3(SLC6A19):c.156C>T (p.Leu52=)	SLC6A19	Single nucleotide variant (synonymous variant)	Hyperglycinuria +3 more	GBenign
Select item 726243	NM_001003841.3(SLC6A19):c.45C>G (p.Ile15Met)	SLC6A19 (I15M)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 724582	NM_001003841.3(SLC6A19):c.453C>T (p.Ser151=)	SLC6A19	Single nucleotide variant (synonymous variant)	Iminoglycinuria +3 more	GLikely benign
Select item 720264	NM_001003841.3(SLC6A19):c.1044C>T (p.Phe348=)	SLC6A19	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 713077	NM_001003841.3(SLC6A19):c.555G>A (p.Thr185=)	SLC6A19	Single nucleotide variant (synonymous variant)	Hyperglycinuria +3 more	GBenign/Likely benign
Select item 638526	NM_001003841.3(SLC6A19):c.1888G>A (p.Gly630Arg)	SLC6A19 (G630R)	Single nucleotide variant (missense variant)	Neutral 1 amino acid transport defect	GUncertain significance
Select item 623442	NM_001003841.3(SLC6A19):c.1701+1G>A	SLC6A19	Single nucleotide variant (splice donor variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 523051	NM_001003841.3(SLC6A19):c.1463A>G (p.Tyr488Cys)	SLC6A19 (Y488C)	Single nucleotide variant (missense variant)	Neutral 1 amino acid transport defect	GUncertain significance
Select item 449553	NM_001003841.3(SLC6A19):c.1173+2T>G	SLC6A19	Single nucleotide variant (splice donor variant)	SLC6A19-related disorder +4 more	GPathogenic
Select item 130354	NM_001003841.3(SLC6A19):c.990A>G (p.Thr330=)	SLC6A19	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 130352	NM_001003841.3(SLC6A19):c.306T>C (p.Gly102=)	SLC6A19	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2021	NM_001003841.3(SLC6A19):c.1017-4G>A	SLC6A19	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 2020	NM_001003841.3(SLC6A19):c.718C>T (p.Arg240Ter)	SLC6A19 (R240*)	Single nucleotide variant (nonsense)	Hyperglycinuria +2 more	GPathogenic
Select item 2019	NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn)	SLC6A19 (D173N)	Single nucleotide variant (missense variant)	Iminoglycinuria +5 more	GConflicting classifications of pathogenicity
Select item 2018	NM_001003841.3(SLC6A19):c.884_885del (p.Val295fs)	SLC6A19 (V295fs)	Microsatellite (frameshift variant)	Neutral 1 amino acid transport defect	GPathogenic

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Items: 84