SLC6A20[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145538	GRCh38/hg38 3p21.31(chr3:45691931-46277910)x3	CCR1, CCR3 +23 more	Copy number gain	See cases	GLikely benign
Select item 903130	NM_020208.4(SLC6A20):c.*3521G>T	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 345340	NM_020208.4(SLC6A20):c.*3519G>A	SLC6A20	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 345341	NM_020208.4(SLC6A20):c.*3486A>G	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 345343	NM_020208.4(SLC6A20):c.*3436C>G	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 345342	NM_020208.4(SLC6A20):c.*3436C>T	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GLikely benign
Select item 345344	NM_020208.4(SLC6A20):c.*3408A>G	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 345345	NM_020208.4(SLC6A20):c.*3404C>T	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 345346	NM_020208.4(SLC6A20):c.*3383C>T	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 899511	NM_020208.4(SLC6A20):c.*3342A>T	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 899512	NM_020208.4(SLC6A20):c.*3320C>G	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 345347	NM_020208.4(SLC6A20):c.*3118A>G	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GBenign
Select item 900639	NM_020208.4(SLC6A20):c.*3102G>T	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 345348	NM_020208.4(SLC6A20):c.*3101C>T	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 900641	NM_020208.4(SLC6A20):c.*3015T>C	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 900643	NM_020208.4(SLC6A20):c.*2898T>A	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 900645	NM_020208.4(SLC6A20):c.*2833C>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 902321	NM_020208.4(SLC6A20):c.*2762A>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 345349	NM_020208.4(SLC6A20):c.*2685T>C	SLC6A20	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 345350	NM_020208.4(SLC6A20):c.*2676T>A	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 345351	NM_020208.4(SLC6A20):c.*2675C>G	SLC6A20	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 345352	NM_020208.4(SLC6A20):c.*2647T>C	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GLikely benign
Select item 345353	NM_020208.4(SLC6A20):c.*2583T>C	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 345354	NM_020208.4(SLC6A20):c.*2560CTT[1]	SLC6A20	Microsatellite (3 prime UTR variant)	Hyperglycinuria	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 345355	NM_020208.4(SLC6A20):c.*2492T>C	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 345356	NM_020208.4(SLC6A20):c.*2479A>G	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GBenign
Select item 345357	NM_020208.4(SLC6A20):c.*2442A>C	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 345358	NM_020208.4(SLC6A20):c.*2244G>A	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria +1 more	GBenign
Select item 903188	NM_020208.4(SLC6A20):c.*2243C>G	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 345359	NM_020208.4(SLC6A20):c.*2230C>G	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 345360	NM_020208.4(SLC6A20):c.*2206dup	SLC6A20	Duplication (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 899573	NM_020208.4(SLC6A20):c.*2198T>C	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 345361	NM_020208.4(SLC6A20):c.*2176T>C	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 345362	NM_020208.4(SLC6A20):c.*2035A>G	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 899574	NM_020208.4(SLC6A20):c.*2025G>A	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 345363	NM_020208.4(SLC6A20):c.2017_2018insGGA	SLC6A20	Insertion (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 899575	NM_020208.4(SLC6A20):c.*1987G>A	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 899576	NM_020208.4(SLC6A20):c.*1904G>A	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GLikely benign
Select item 899577	NM_020208.4(SLC6A20):c.*1891C>G	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 899578	NM_020208.4(SLC6A20):c.*1824G>A	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GLikely benign
Select item 345364	NM_020208.4(SLC6A20):c.*1819T>G	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 345365	NM_020208.4(SLC6A20):c.1786_1787del	SLC6A20	Deletion (3 prime UTR variant)	Hyperglycinuria	GLikely benign
Select item 900712	NM_020208.4(SLC6A20):c.*1760C>T	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 345366	NM_020208.4(SLC6A20):c.*1699T>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 345367	NM_020208.4(SLC6A20):c.*1629C>T	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GLikely benign
Select item 345368	NM_020208.4(SLC6A20):c.*1602C>G	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 345369	NM_020208.4(SLC6A20):c.*1596T>A	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 900714	NM_020208.4(SLC6A20):c.*1581G>C	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 345370	NM_020208.4(SLC6A20):c.*1527A>G	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 345371	NM_020208.4(SLC6A20):c.*1506A>T	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GLikely benign
Select item 345372	NM_020208.4(SLC6A20):c.*1422A>G	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GLikely benign
Select item 902397	NM_020208.4(SLC6A20):c.*1351C>T	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 345373	NM_020208.4(SLC6A20):c.*1345T>C	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GLikely benign
Select item 345374	NM_020208.4(SLC6A20):c.*1344G>A	SLC6A20	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 345375	NM_020208.4(SLC6A20):c.*1328T>C	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GBenign
Select item 902398	NM_020208.4(SLC6A20):c.*1285T>C	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 903254	NM_020208.4(SLC6A20):c.*1257G>A	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 345376	NM_020208.4(SLC6A20):c.*1253A>G	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 345377	NM_020208.4(SLC6A20):c.*1192T>C	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GBenign
Select item 345378	NM_020208.4(SLC6A20):c.*1186T>C	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GBenign
Select item 345379	NM_020208.4(SLC6A20):c.*1169T>C	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 345380	NM_020208.4(SLC6A20):c.*1066del	SLC6A20	Deletion (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 345381	NM_020208.4(SLC6A20):c.1063_1064dup	SLC6A20	Duplication (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 345382	NM_020208.4(SLC6A20):c.*1044del	SLC6A20	Deletion (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 903256	NM_020208.4(SLC6A20):c.*1017T>C	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 345383	NM_020208.4(SLC6A20):c.*917G>A	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 345384	NM_020208.4(SLC6A20):c.*871C>G	SLC6A20	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 899647	NM_020208.4(SLC6A20):c.*730G>A	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 899648	NM_020208.4(SLC6A20):c.*697G>A	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 345385	NM_020208.4(SLC6A20):c.*654C>T	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 345386	NM_020208.4(SLC6A20):c.*644C>T	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 899649	NM_020208.4(SLC6A20):c.*636C>T	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 345387	NM_020208.4(SLC6A20):c.*599G>A	SLC6A20	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 345388	NM_020208.4(SLC6A20):c.*590G>A	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 345389	NM_020208.4(SLC6A20):c.*548A>G	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GLikely benign
Select item 345390	NM_020208.4(SLC6A20):c.*537T>C	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria +1 more	GBenign
Select item 345391	NM_020208.4(SLC6A20):c.*446G>A	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GLikely benign
Select item 900795	NM_020208.4(SLC6A20):c.*146A>G	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GLikely benign
Select item 345392	NM_020208.4(SLC6A20):c.*142A>C	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 900796	NM_020208.4(SLC6A20):c.*140G>T	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 902460	NM_020208.4(SLC6A20):c.*19G>A	SLC6A20	Single nucleotide variant (3 prime UTR variant)	Hyperglycinuria	GUncertain significance
Select item 3165460	NM_020208.4(SLC6A20):c.1762G>A (p.Ala588Thr)	SLC6A20 (A541T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 345393	NM_020208.4(SLC6A20):c.1747C>T (p.Leu583Phe)	SLC6A20 (L583F +1 more)	Single nucleotide variant (missense variant)	Hyperglycinuria +1 more	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 345394	NM_020208.4(SLC6A20):c.1742G>A (p.Arg581His)	SLC6A20 (R581H +1 more)	Single nucleotide variant (missense variant)	Hyperglycinuria +2 more	GConflicting classifications of pathogenicity
Select item 345395	NM_020208.4(SLC6A20):c.1741C>T (p.Arg581Cys)	SLC6A20 (R581C +1 more)	Single nucleotide variant (missense variant)	Hyperglycinuria	GUncertain significance
Select item 345396	NM_020208.4(SLC6A20):c.1730C>A (p.Thr577Asn)	SLC6A20 (T577N +1 more)	Single nucleotide variant (missense variant)	Hyperglycinuria	GUncertain significance
Select item 3165458	NM_020208.4(SLC6A20):c.1718C>T (p.Ala573Val)	SLC6A20 (A536V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3165457	NM_020208.4(SLC6A20):c.1714C>G (p.Leu572Val)	SLC6A20 (L535V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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