"GeneDx"[submitter] AND "SLC6A19"[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146067	GRCh38/hg38 5p15.33(chr5:22149-1278576)x3	LOC132089294, LOC132089295 +113 more	Copy number gain	See cases	GUncertain significance
Select item 59557	GRCh38/hg38 5p15.33(chr5:22149-3556942)x1	AHRR, BRD9 +194 more	Copy number loss	See cases	GPathogenic
Select item 59578	GRCh38/hg38 5p15.33(chr5:37694-2913205)x1	LOC132090723, LOC132090724 +182 more	Copy number loss	See cases	GPathogenic
Select item 59577	GRCh38/hg38 5p15.33(chr5:37694-2746908)x1	AHRR, BRD9 +180 more	Copy number loss	See cases	GPathogenic
Select item 59601	GRCh38/hg38 5p15.33-15.32(chr5:54839-5603401)x1	ADAMTS16, ADAMTS16-DT +226 more	Copy number loss	See cases	GPathogenic
Select item 146059	GRCh38/hg38 5p15.33(chr5:1085824-1315406)x3	LOC110806263, LOC110806264 +10 more	Copy number gain	See cases	GUncertain significance
Select item 1241136	NC_000005.10:g.1201349A>G	SLC6A19	Single nucleotide variant	not provided	GBenign
Select item 1179911	NC_000005.10:g.1201391C>T	SLC6A19	Single nucleotide variant	not provided	GBenign
Select item 1279037	NM_001003841.3(SLC6A19):c.-8C>T	SLC6A19	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 504251	NM_001003841.3(SLC6A19):c.180C>G (p.Tyr60Ter)	SLC6A19 (Y60*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1286226	NM_001003841.3(SLC6A19):c.202+33C>T	SLC6A19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241162	NM_001003841.3(SLC6A19):c.202+175C>T	SLC6A19	Single nucleotide variant (intron variant)	not provided	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 1232322	NM_001003841.3(SLC6A19):c.343+62A>T	SLC6A19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178005	NM_001003841.3(SLC6A19):c.343+184C>G	SLC6A19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275075	NM_001003841.3(SLC6A19):c.343+192C>G	SLC6A19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316946	NM_001003841.3(SLC6A19):c.410T>C (p.Met137Thr)	SLC6A19 (M137T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1294934	NM_001003841.3(SLC6A19):c.481+93G>A	SLC6A19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263678	NM_001003841.3(SLC6A19):c.482-61C>A	SLC6A19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 504116	NM_001003841.3(SLC6A19):c.482-2A>C	SLC6A19	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2019	NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn)	SLC6A19 (D173N)	Single nucleotide variant (missense variant)	Neutral 1 amino acid transport defect +4 more	GConflicting classifications of pathogenicity
Select item 1221169	NM_001003841.3(SLC6A19):c.663+48C>T	SLC6A19	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1294940	NM_001003841.3(SLC6A19):c.664-68C>T	SLC6A19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283572	NM_001003841.3(SLC6A19):c.664-51A>G	SLC6A19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1348032	NM_001003841.3(SLC6A19):c.697G>A (p.Val233Ile)	SLC6A19 (V233I)	Single nucleotide variant (missense variant)	Hyperglycinuria +3 more	GUncertain significance
Select item 1707901	NM_001003841.3(SLC6A19):c.725T>C (p.Leu242Pro)	SLC6A19 (L242P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 130353	NM_001003841.3(SLC6A19):c.754G>A (p.Val252Ile)	SLC6A19 (V252I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1248161	NM_001003841.3(SLC6A19):c.775-60_775-58del	SLC6A19	Deletion (intron variant)	not provided	GBenign
Select item 1320960	NM_001003841.3(SLC6A19):c.812C>T (p.Ala271Val)	SLC6A19 (A271V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1185323	NM_001003841.3(SLC6A19):c.887+84A>G	SLC6A19	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1320860	NM_001003841.3(SLC6A19):c.898G>A (p.Glu300Lys)	SLC6A19 (E300K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1318928	NM_001003841.3(SLC6A19):c.931G>A (p.Gly311Ser)	SLC6A19 (G311S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 450798	NM_001003841.3(SLC6A19):c.941C>A (p.Ser314Ter)	SLC6A19 (S314*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 235212	NM_001003841.3(SLC6A19):c.941C>T (p.Ser314Leu)	SLC6A19 (S314L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1049853	NM_001003841.3(SLC6A19):c.970G>A (p.Val324Ile)	SLC6A19 (V324I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1318507	NM_001003841.3(SLC6A19):c.1017-13A>G	SLC6A19	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 449553	NM_001003841.3(SLC6A19):c.1173+2T>G	SLC6A19	Single nucleotide variant (splice donor variant)	Hyperglycinuria +3 more	GPathogenic
Select item 1167273	NM_001003841.3(SLC6A19):c.1173+14G>A	SLC6A19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177712	NM_001003841.3(SLC6A19):c.1173+52C>T	SLC6A19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271002	NM_001003841.3(SLC6A19):c.1173+163G>C	SLC6A19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228580	NM_001003841.3(SLC6A19):c.1174-156C>A	SLC6A19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297938	NM_001003841.3(SLC6A19):c.1174-90C>T	SLC6A19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1500121	NM_001003841.3(SLC6A19):c.1177G>A (p.Val393Met)	SLC6A19 (V393M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 595203	NM_001003841.3(SLC6A19):c.1296_1297del (p.Met432fs)	SLC6A19 (M432fs)	Deletion (frameshift variant)	not provided	GConflicting classifications of pathogenicity
Select item 1261307	NM_001003841.3(SLC6A19):c.1378+94C>T	SLC6A19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1169026	NM_001003841.3(SLC6A19):c.1379-9G>C	SLC6A19	Single nucleotide variant (intron variant)	not provided	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 1185326	NM_001003841.3(SLC6A19):c.1539-67T>C	SLC6A19	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1294936	NM_001003841.3(SLC6A19):c.*148C>T	SLC6A19	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1242715	NM_001003841.3(SLC6A19):c.*152T>C	SLC6A19	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 253596	GRCh37/hg19 5p15.33-15.2(chr5:22149-13362684)x1	ADAMTS16, ADCY2 +49 more	Copy number loss	See cases	GPathogenic
Select item 253537	GRCh37/hg19 5p15.33-13.2(chr5:22149-34041255)x3	AHRR, ADAMTS12 +82 more	Copy number gain	See cases	GPathogenic
Select item 253478	GRCh37/hg19 5p15.33-15.1(chr5:79146-15509107)x1	ADAMTS16, ADCY2 +56 more	Copy number loss	See cases	GPathogenic

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Items: 54