ClinVar for MedGen (Select 107456) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585140	NM_001003841.3(SLC6A19):c.774+2T>G	SLC6A19	Single nucleotide variant (splice donor variant)	Hyperglycinuria	GLikely pathogenic
Select item 2584784	NM_001003841.3(SLC6A19):c.1228A>G (p.Met410Val)	SLC6A19 (M410V)	Single nucleotide variant (missense variant)	Hyperglycinuria	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)	Hyperglycinuria +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)	Hyperglycinuria +3 more	GLikely benign
Select item 1633250	NM_001003841.3(SLC6A19):c.1701+18C>T	SLC6A19	Single nucleotide variant (intron variant)	Hyperglycinuria +3 more	GLikely benign
Select item 1630744	NM_001003841.3(SLC6A19):c.481+12C>G	SLC6A19	Single nucleotide variant (intron variant)	Hyperglycinuria +3 more	GLikely benign
Select item 1626793	NM_001003841.3(SLC6A19):c.1599G>A (p.Thr533=)	SLC6A19	Single nucleotide variant (synonymous variant)	Hyperglycinuria +3 more	GLikely benign
Select item 1621309	NM_001003841.3(SLC6A19):c.202+12G>A	SLC6A19	Single nucleotide variant (intron variant)	Hyperglycinuria +3 more	GLikely benign
Select item 1615149	NM_001003841.3(SLC6A19):c.1596C>T (p.Val532=)	SLC6A19	Single nucleotide variant (synonymous variant)	Neutral 1 amino acid transport defect +3 more	GLikely benign
Select item 1599936	NM_001003841.3(SLC6A19):c.343+11C>T	SLC6A19	Single nucleotide variant (intron variant)	Neutral 1 amino acid transport defect +3 more	GBenign/Likely benign
Select item 1581688	NM_001003841.3(SLC6A19):c.195C>T (p.His65=)	SLC6A19	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1577649	NM_001003841.3(SLC6A19):c.775-4G>A	SLC6A19	Single nucleotide variant (intron variant)	Iminoglycinuria +3 more	GBenign/Likely benign
Select item 1575404	NM_001003841.3(SLC6A19):c.887+8C>T	SLC6A19	Single nucleotide variant (intron variant)	Iminoglycinuria +3 more	GLikely benign
Select item 1561822	NM_001003841.3(SLC6A19):c.1485C>T (p.Leu495=)	SLC6A19	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1558817	NM_001003841.3(SLC6A19):c.657C>T (p.Thr219=)	SLC6A19	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1536313	NM_001003841.3(SLC6A19):c.849C>T (p.Phe283=)	SLC6A19	Single nucleotide variant (synonymous variant)	Neutral 1 amino acid transport defect +3 more	GBenign/Likely benign
Select item 1529487	NM_001003841.3(SLC6A19):c.48G>A (p.Pro16=)	SLC6A19	Single nucleotide variant (synonymous variant)	Iminoglycinuria +3 more	GBenign/Likely benign
Select item 1517264	NM_001003841.3(SLC6A19):c.98C>T (p.Pro33Leu)	SLC6A19 (P33L)	Single nucleotide variant (missense variant)	Hyperglycinuria +3 more	GUncertain significance
Select item 1516499	NM_001003841.3(SLC6A19):c.985G>A (p.Ala329Thr)	SLC6A19 (A329T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1514953	NM_001003841.3(SLC6A19):c.1545T>A (p.Asn515Lys)	SLC6A19 (N515K)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1513911	NM_001003841.3(SLC6A19):c.1244T>C (p.Leu415Pro)	SLC6A19 (L415P)	Single nucleotide variant (missense variant)	not provided +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)	Iminoglycinuria +3 more	GUncertain significance
Select item 1482946	NM_001003841.3(SLC6A19):c.683C>T (p.Thr228Met)	SLC6A19 (T228M)	Single nucleotide variant (missense variant)	Iminoglycinuria +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)	Iminoglycinuria +3 more	GUncertain significance
Select item 1429377	NM_001003841.3(SLC6A19):c.641G>A (p.Arg214His)	SLC6A19 (R214H)	Single nucleotide variant (missense variant)	Neutral 1 amino acid transport defect +3 more	GUncertain significance
Select item 1421821	NM_001003841.3(SLC6A19):c.1097G>A (p.Arg366Gln)	SLC6A19 (R366Q)	Single nucleotide variant (missense variant)	Iminoglycinuria +3 more	GUncertain significance
Select item 1418017	NM_001003841.3(SLC6A19):c.640C>G (p.Arg214Gly)	SLC6A19 (R214G)	Single nucleotide variant (missense variant)	Iminoglycinuria +3 more	GUncertain significance
Select item 1415571	NM_001003841.3(SLC6A19):c.95G>A (p.Arg32Gln)	SLC6A19 (R32Q)	Single nucleotide variant (missense variant)	Neutral 1 amino acid transport defect +3 more	GUncertain significance
Select item 1406147	NM_001003841.3(SLC6A19):c.1003G>A (p.Asp335Asn)	SLC6A19 (D335N)	Single nucleotide variant (missense variant)	not provided +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)	not provided +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)	not provided +3 more	GUncertain significance
Select item 1348032	NM_001003841.3(SLC6A19):c.697G>A (p.Val233Ile)	SLC6A19 (V233I)	Single nucleotide variant (missense variant)	Neutral 1 amino acid transport defect +3 more	GUncertain significance
Select item 1245781	NM_181776.3(SLC36A2):c.1290G>A (p.Thr430=)	SLC36A2	Single nucleotide variant (synonymous variant)	Hyperglycinuria +1 more	GBenign
Select item 1244967	NM_181776.3(SLC36A2):c.187C>T (p.Leu63=)	SLC36A2	Single nucleotide variant (synonymous variant)	Hyperglycinuria +1 more	GBenign
Select item 1227573	NM_020208.4(SLC6A20):c.263-32A>G	SLC6A20	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 1182853	NM_181776.3(SLC36A2):c.1383G>A (p.Gln461=)	SLC36A2	Single nucleotide variant (synonymous variant)	Hyperglycinuria +1 more	GBenign
Select item 1174952	NM_001003841.3(SLC6A19):c.774+1G>A	SLC6A19	Single nucleotide variant (splice donor variant)	Hyperglycinuria +2 more	GLikely pathogenic
Select item 1050543	NM_020208.4(SLC6A20):c.1601T>G (p.Leu534Arg)	SLC6A20 (L497R +2 more)	Single nucleotide variant (missense variant)	Iminoglycinuria +1 more	GUncertain significance
Select item 1050258	NM_001003841.3(SLC6A19):c.887+9G>A	SLC6A19	Single nucleotide variant (intron variant)	Hyperglycinuria +2 more	GUncertain significance
Select item 1049972	NM_020208.4(SLC6A20):c.1A>G (p.Met1Val)	SLC6A20 (M1V)	Single nucleotide variant (missense variant +1 more)	Iminoglycinuria +1 more	GUncertain significance
Select item 1031693	NM_001003841.3(SLC6A19):c.539C>T (p.Thr180Met)	SLC6A19 (T180M)	Single nucleotide variant (missense variant)	Iminoglycinuria +3 more	GUncertain significance
Select item 976639	NM_020208.4(SLC6A20):c.*2557A>C	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 973486	NM_001003841.3(SLC6A19):c.712C>T (p.Leu238Phe)	SLC6A19 (L238F)	Single nucleotide variant (missense variant)	Iminoglycinuria +2 more	GUncertain significance
Select item 973458	NM_001003841.3(SLC6A19):c.1603C>T (p.Arg535Cys)	SLC6A19 (R535C)	Single nucleotide variant (missense variant)	Iminoglycinuria +3 more	GUncertain significance
Select item 931106	NM_001003841.3(SLC6A19):c.1468G>A (p.Gly490Ser)	SLC6A19 (G490S)	Single nucleotide variant (missense variant)	Iminoglycinuria +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 903394	NM_020208.4(SLC6A20):c.398C>T (p.Thr133Met)	SLC6A20 (T133M)	Single nucleotide variant (missense variant)	Hyperglycinuria +1 more	GUncertain significance
Select item 903393	NM_020208.4(SLC6A20):c.473C>T (p.Pro158Leu)	SLC6A20 (P158L)	Single nucleotide variant (missense variant)	Hyperglycinuria +1 more	GUncertain significance
Select item 903326	NM_020208.4(SLC6A20):c.1452C>T (p.Tyr484=)	SLC6A20	Single nucleotide variant (synonymous variant)	Hyperglycinuria	GUncertain significance
Select item 903325	NM_020208.4(SLC6A20):c.1491C>T (p.Thr497=)	SLC6A20	Single nucleotide variant (synonymous variant)	Hyperglycinuria	GUncertain significance
Select item 903324	NM_020208.4(SLC6A20):c.1585A>G (p.Ile529Val)	SLC6A20 (I492V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 903323	NM_020208.4(SLC6A20):c.1646A>G (p.Lys549Arg)	SLC6A20 (K549R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 903256	NM_020208.4(SLC6A20):c.*1017T>C	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 903255	NM_020208.4(SLC6A20):c.*1023C>T	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 903254	NM_020208.4(SLC6A20):c.*1257G>A	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 903253	NM_020208.4(SLC6A20):c.*1269G>A	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 903188	NM_020208.4(SLC6A20):c.*2243C>G	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 903187	NM_020208.4(SLC6A20):c.*2263C>T	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 903130	NM_020208.4(SLC6A20):c.*3521G>T	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 902540	NM_020208.4(SLC6A20):c.594C>T (p.Phe198=)	SLC6A20	Single nucleotide variant (synonymous variant +1 more)	Hyperglycinuria	GUncertain significance
Select item 902539	NM_020208.4(SLC6A20):c.666T>A (p.Asn222Lys)	SLC6A20 (N222K)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 902462	NM_020208.4(SLC6A20):c.1677C>G (p.Ile559Met)	SLC6A20 (I559M +1 more)	Single nucleotide variant (missense variant)	Hyperglycinuria	GUncertain significance
Select item 902461	NM_020208.4(SLC6A20):c.1744C>T (p.Arg582Cys)	SLC6A20 (R582C +1 more)	Single nucleotide variant (missense variant)	Iminoglycinuria +2 more	GUncertain significance
Select item 902460	NM_020208.4(SLC6A20):c.*19G>A	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 902459	NM_020208.4(SLC6A20):c.*22C>G	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 902398	NM_020208.4(SLC6A20):c.*1285T>C	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 902397	NM_020208.4(SLC6A20):c.*1351C>T	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 902322	NM_020208.4(SLC6A20):c.*2749G>A	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 902321	NM_020208.4(SLC6A20):c.*2762A>T	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 902320	NM_020208.4(SLC6A20):c.*2808C>T	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 901617	NM_020208.4(SLC6A20):c.-76G>T	SLC6A20	Single nucleotide variant (5 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 900940	NM_020208.4(SLC6A20):c.-63C>A	SLC6A20	Single nucleotide variant (5 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 900939	NM_020208.4(SLC6A20):c.74T>C (p.Leu25Pro)	SLC6A20 (L25P)	Single nucleotide variant (missense variant)	Iminoglycinuria +1 more	GUncertain significance
Select item 900938	NM_020208.4(SLC6A20):c.79A>G (p.Asn27Asp)	SLC6A20 (N27D)	Single nucleotide variant (missense variant)	Iminoglycinuria +1 more	GUncertain significance
Select item 900867	NM_020208.4(SLC6A20):c.678C>T (p.Tyr226=)	SLC6A20	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 900866	NM_020208.4(SLC6A20):c.693+14C>T	SLC6A20	Single nucleotide variant (intron variant)	Hyperglycinuria	GUncertain significance
Select item 900865	NM_020208.4(SLC6A20):c.694-15C>T	SLC6A20	Single nucleotide variant (intron variant)	Hyperglycinuria	GUncertain significance
Select item 900864	NM_020208.4(SLC6A20):c.746T>C (p.Phe249Ser)	SLC6A20 (F249S +1 more)	Single nucleotide variant (missense variant)	Hyperglycinuria	GLikely benign
Select item 900796	NM_020208.4(SLC6A20):c.*140G>T	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 900795	NM_020208.4(SLC6A20):c.*146A>G	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GLikely benign
Select item 900714	NM_020208.4(SLC6A20):c.*1581G>C	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 900713	NM_020208.4(SLC6A20):c.*1643G>A	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 900712	NM_020208.4(SLC6A20):c.*1760C>T	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 900645	NM_020208.4(SLC6A20):c.*2833C>T	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 900644	NM_020208.4(SLC6A20):c.*2883C>T	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 900643	NM_020208.4(SLC6A20):c.*2898T>A	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 900642	NM_020208.4(SLC6A20):c.*2939A>G	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 900641	NM_020208.4(SLC6A20):c.*3015T>C	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 900640	NM_020208.4(SLC6A20):c.*3051A>T	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 900639	NM_020208.4(SLC6A20):c.*3102G>T	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance

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