SHMT1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58104	GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3	ADORA2B, AKAP10 +333 more	Copy number gain	See cases	GPathogenic
Select item 58107	GRCh38/hg38 17p12-11.2(chr17:15259164-20925299)x3	ADORA2B, AKAP10 +337 more	Copy number gain	See cases	GPathogenic
Select item 153990	GRCh38/hg38 17p12-11.2(chr17:15552362-19014200)x3	ADORA2B, ALKBH5 +240 more	Copy number gain	See cases	GPathogenic
Select item 155418	GRCh38/hg38 17p12-11.2(chr17:15729893-20510251)x1	LOC126862516, LOC126862517 +314 more	Copy number loss	See cases	GPathogenic
Select item 56996	GRCh38/hg38 17p12-11.2(chr17:15776915-18771753)x1	LOC130060335, LOC130060336 +217 more	Copy number loss	See cases	GPathogenic
Select item 155583	GRCh38/hg38 17p12-11.2(chr17:15850859-20649235)x1	FAM106C, FAM83G +311 more	Copy number loss	See cases	GPathogenic
Select item 155110	GRCh38/hg38 17p12-11.2(chr17:15883037-20658018)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 150691	GRCh38/hg38 17p12-11.2(chr17:15883037-20620700)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 57018	GRCh38/hg38 17p12-11.2(chr17:15898032-20620700)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 60429	GRCh38/hg38 17p12-11.2(chr17:15952071-18362819)x1	ADORA2B, ALKBH5 +199 more	Copy number loss	See cases	GPathogenic
Select item 60433	GRCh38/hg38 17p11.2(chr17:16117885-18362819)x1	ALKBH5, ATPAF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 155648	GRCh38/hg38 17p11.2(chr17:16426633-20998588)x3	LOC130060361, LOC130060362 +281 more	Copy number gain	See cases	GPathogenic
Select item 150743	GRCh38/hg38 17p11.2(chr17:16656162-20390697)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 58110	GRCh38/hg38 17p11.2(chr17:16656168-20390725)x3	AKAP10, ALDH3A1 +248 more	Copy number gain	See cases	GPathogenic
Select item 58113	GRCh38/hg38 17p11.2(chr17:16692462-20390725)x3	AKAP10, ALDH3A1 +248 more	Copy number gain	See cases	GPathogenic
Select item 155314	GRCh38/hg38 17p11.2(chr17:16696708-20492860)x3	LOC130060442, LOC130060443 +251 more	Copy number gain	See cases	GPathogenic
Select item 151506	GRCh38/hg38 17p11.2(chr17:16699694-20530646)x3	MYO15A, NT5M +252 more	Copy number gain	See cases	GPathogenic
Select item 155114	GRCh38/hg38 17p11.2(chr17:16699816-20428292)x1	AKAP10, ALDH3A1 +249 more	Copy number loss	See cases	GPathogenic
Select item 152261	GRCh38/hg38 17p11.2(chr17:16699816-20492214)x3	AKAP10, ALDH3A1 +251 more	Copy number gain	See cases	GPathogenic
Select item 148912	GRCh38/hg38 17p11.2(chr17:16699816-20390725)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 58115	GRCh38/hg38 17p11.2(chr17:16713514-20582527)x3	AKAP10, ALDH3A1 +253 more	Copy number gain	See cases	GPathogenic
Select item 58126	GRCh38/hg38 17p11.2(chr17:16713515-20340442)x3	LOC130060419, LOC130060420 +248 more	Copy number gain	See cases	GPathogenic
Select item 155350	GRCh38/hg38 17p11.2(chr17:16718415-20546210)x3	AKAP10, ALDH3A1 +252 more	Copy number gain	See cases	GPathogenic
Select item 146755	GRCh38/hg38 17p11.2(chr17:16734558-20390697)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 146754	GRCh38/hg38 17p11.2(chr17:16734558-20390697)x3	LOC130060406, LOC130060407 +248 more	Copy number gain	See cases	GPathogenic
Select item 154919	GRCh38/hg38 17p11.2(chr17:16734588-18834703)x1	MIR6778, MPRIP +158 more	Copy number loss	See cases	GPathogenic
Select item 147821	GRCh38/hg38 17p11.2(chr17:16734588-20316151)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 147756	GRCh38/hg38 17p11.2(chr17:16734588-20390725)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 146492	GRCh38/hg38 17p11.2(chr17:16734588-18333372)x1	ALKBH5, ATPAF2 +141 more	Copy number loss	See cases	GPathogenic
Select item 58127	GRCh38/hg38 17p11.2(chr17:16760817-20429770)x3	AKAP10, ALDH3A1 +248 more	Copy number gain	See cases	GPathogenic
Select item 60437	GRCh38/hg38 17p11.2(chr17:16760818-20390725)x1	AKAP10, ALDH3A1 +247 more	Copy number loss	See cases	GPathogenic
Select item 58128	GRCh38/hg38 17p11.2(chr17:16760818-20504849)x3	AKAP10, ALDH3A1 +250 more	Copy number gain	See cases	GPathogenic
Select item 545218	NC_000017.11:g.(?_16770855)_(20585863_?)del	AKAP10, ALDH3A1 +252 more	Deletion	Autism	GPathogenic
Select item 545217	Single allele	DRC3, LOC130060351 +248 more	Duplication	Autism	GPathogenic
Select item 60439	GRCh38/hg38 17p11.2(chr17:16817557-18362819)x1	ALKBH5, ATPAF2 +138 more	Copy number loss	See cases	GPathogenic
Select item 60455	GRCh38/hg38 17p11.2(chr17:16836827-20465067)x1	AKAP10, ALDH3A1 +246 more	Copy number loss	See cases	GPathogenic
Select item 58132	GRCh38/hg38 17p11.2(chr17:16836827-20504849)x3	AKAP10, ALDH3A1 +246 more	Copy number gain	See cases	GPathogenic
Select item 58131	GRCh38/hg38 17p11.2(chr17:16836827-20340442)x3	AKAP10, ALDH3A1 +243 more	Copy number gain	See cases	GPathogenic
Select item 153671	GRCh38/hg38 17p11.2(chr17:16838097-20436415)x1	AKAP10, ALDH3A1 +244 more	Copy number loss	See cases	GPathogenic
Select item 155529	GRCh38/hg38 17p11.2(chr17:16853120-20436482)x1	AKAP10, ALDH3A1 +243 more	Copy number loss	See cases	GPathogenic
Select item 150319	GRCh38/hg38 17p11.2(chr17:16854250-20560048)x3	AKAP10, ALDH3A1 +246 more	Copy number gain	See cases	GPathogenic
Select item 149203	GRCh38/hg38 17p11.2(chr17:16854250-20492214)x3	AKAP10, ALDH3A1 +245 more	Copy number gain	See cases	GPathogenic
Select item 145065	GRCh38/hg38 17p11.2(chr17:16854250-20492169)x3	LOC130060411, LOC130060412 +245 more	Copy number gain	See cases	GPathogenic
Select item 60457	GRCh38/hg38 17p11.2(chr17:16858444-20465067)x1	AKAP10, ALDH3A1 +245 more	Copy number loss	See cases	GPathogenic
Select item 60456	GRCh38/hg38 17p11.2(chr17:16858444-20340442)x1	AKAP10, ALDH3A1 +242 more	Copy number loss	See cases	GPathogenic
Select item 155143	GRCh38/hg38 17p11.2(chr17:16858500-20559337)x1	AKAP10, ALDH3A1 +246 more	Copy number loss	See cases	GPathogenic
Select item 153822	GRCh38/hg38 17p11.2(chr17:16858500-20570955)x3	AKAP10, ALDH3A1 +246 more	Copy number gain	See cases	GPathogenic
Select item 144213	GRCh38/hg38 17p11.2(chr17:16879232-20316151)x3	SLC5A10, SMCR2 +242 more	Copy number gain	See cases	GPathogenic
Select item 57224	GRCh38/hg38 17p11.2(chr17:16879232-18970941)x3	ALKBH5, ATPAF2 +161 more	Copy number gain	See cases	GPathogenic
Select item 57035	GRCh38/hg38 17p11.2(chr17:16879232-20390725)x1	AKAP10, ALDH3A1 +242 more	Copy number loss	See cases	GPathogenic
Select item 57034	GRCh38/hg38 17p11.2(chr17:16879232-20390725)x3	AKAP10, ALDH3A1 +242 more	Copy number gain	See cases	GPathogenic
Select item 146753	GRCh38/hg38 17p11.2(chr17:16879233-20390697)x1	AKAP10, ALDH3A1 +242 more	Copy number loss	See cases	GPathogenic
Select item 58134	GRCh38/hg38 17p11.2(chr17:16919369-20289856)x3	AKAP10, ALDH3A1 +241 more	Copy number gain	See cases	GPathogenic
Select item 150379	GRCh38/hg38 17p11.2(chr17:16989087-20370816)x1	AKAP10, ALDH3A1 +226 more	Copy number loss	See cases	GPathogenic
Select item 152568	GRCh38/hg38 17p11.2(chr17:17018951-20148630)x1	AKAP10, ALDH3A1 +220 more	Copy number loss	See cases	GPathogenic
Select item 153282	GRCh38/hg38 17p11.2(chr17:17067833-19019419)x1	LOC130060377, LOC130060378 +143 more	Copy number loss	See cases	GPathogenic
Select item 60458	GRCh38/hg38 17p11.2(chr17:17150076-18415759)x1	LOC125177431, LOC125177432 +117 more	Copy number loss	See cases	GPathogenic
Select item 146614	GRCh38/hg38 17p11.2(chr17:17331511-20022528)x1	AKAP10, ALDH3A1 +187 more	Copy number loss	See cases	GPathogenic
Select item 150383	GRCh38/hg38 17p11.2(chr17:17748602-18551638)x3	ALKBH5, ATPAF2 +70 more	Copy number gain	See cases	GLikely benign
Select item 146600	GRCh38/hg38 17p11.2(chr17:17788412-18333372)x1	ALKBH5, ATPAF2 +54 more	Copy number loss	See cases	GPathogenic
Select item 154395	GRCh38/hg38 17p11.2(chr17:18077127-18521388)x3	ALKBH5, DRG2 +30 more	Copy number gain	See cases	GPathogenic
Select item 2613023	NM_004169.5(SHMT1):c.1433C>G (p.Pro478Arg)	SHMT1 (P439R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241574	NM_004169.5(SHMT1):c.1421T>G (p.Leu474Arg)	SHMT1 (L474R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 157592	NM_004169.5(SHMT1):c.1420C>T (p.Leu474Phe)	SHMT1 (L474F +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 769910	NM_004169.5(SHMT1):c.1380C>T (p.Ala460=)	SHMT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2233374	NM_004169.5(SHMT1):c.1376C>T (p.Ala459Val)	SHMT1 (A321V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161837	NM_004169.5(SHMT1):c.1341G>T (p.Glu447Asp)	SHMT1 (E408D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462935	NM_004169.5(SHMT1):c.1316C>T (p.Thr439Ile)	SHMT1 (T400I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3318330	NM_004169.5(SHMT1):c.1231C>T (p.Arg411Cys)	SHMT1 (R273C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161836	NM_004169.5(SHMT1):c.1204C>T (p.Arg402Trp)	SHMT1 (R264W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161835	NM_004169.5(SHMT1):c.1189C>T (p.Arg397Trp)	SHMT1 (R358W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323177	NM_004169.5(SHMT1):c.1135G>T (p.Ala379Ser)	SHMT1 (A340S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718636	NM_004169.5(SHMT1):c.1054+6G>A	SHMT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2315481	NM_004169.5(SHMT1):c.1046T>C (p.Ile349Thr)	SHMT1 (I310T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394934	NM_004169.5(SHMT1):c.1030G>C (p.Glu344Gln)	SHMT1 (E206Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717060	NM_004169.5(SHMT1):c.1018G>C (p.Glu340Gln)	SHMT1 (E340Q +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2302096	NM_004169.5(SHMT1):c.934G>A (p.Val312Ile)	SHMT1 (V312I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557583	NM_004169.5(SHMT1):c.925A>G (p.Ile309Val)	SHMT1 (I171V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161846	NM_004169.5(SHMT1):c.896G>T (p.Gly299Val)	SHMT1 (G299V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 784542	NM_004169.5(SHMT1):c.815-3C>T	SHMT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3161845	NM_004169.5(SHMT1):c.788G>A (p.Arg263Gln)	SHMT1 (R263Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2689973	NM_004169.5(SHMT1):c.773C>T (p.Thr258Ile)	SHMT1 (T120I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 790881	NM_004169.5(SHMT1):c.753G>C (p.Val251=)	SHMT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 735539	NM_004169.5(SHMT1):c.753G>A (p.Val251=)	SHMT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3161844	NM_004169.5(SHMT1):c.710C>T (p.Ala237Val)	SHMT1 (A237V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3161843	NM_004169.5(SHMT1):c.700G>A (p.Gly234Arg)	SHMT1 (G234R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161842	NM_004169.5(SHMT1):c.665G>A (p.Gly222Glu)	SHMT1 (G84E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777026	NM_004169.5(SHMT1):c.647A>G (p.Lys216Arg)	SHMT1 (K216R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 735540	NM_004169.5(SHMT1):c.637C>T (p.Arg213Trp)	SHMT1 (R213W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3161841	NM_004169.5(SHMT1):c.572G>A (p.Arg191His)	SHMT1 (R53H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 740690	NM_004169.5(SHMT1):c.520-6C>G	MIR6778, SHMT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3318331	NM_004169.5(SHMT1):c.468C>G (p.Asp156Glu)	SHMT1 (D18E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223845	NM_004169.5(SHMT1):c.410G>A (p.Arg137His)	SHMT1 (R137H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2455542	NM_004169.5(SHMT1):c.343G>A (p.Val115Ile)	SHMT1 (V115I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161840	NM_004169.5(SHMT1):c.322C>T (p.Pro108Ser)	SHMT1 (P108S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161839	NM_004169.5(SHMT1):c.315G>C (p.Lys105Asn)	SHMT1 (K105N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597500	NM_004169.5(SHMT1):c.290A>T (p.Gln97Leu)	SHMT1 (Q97L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161838	NM_004169.5(SHMT1):c.266T>C (p.Ile89Thr)	SHMT1 (I89T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 781349	NM_004169.5(SHMT1):c.242+10T>C	SHMT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 761893	NM_004169.5(SHMT1):c.40C>T (p.Leu14=)	SHMT1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign

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