ClinVar for Gene (Select 6470) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 3063517	GRCh37/hg19 17p12-11.2(chr17:15759103-20564268)x1	ADORA2B, AKAP10 +61 more	Copy number loss	not specified	GPathogenic
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
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 2685598	GRCh37/hg19 17p11.2(chr17:16651293-20450566)x1	AKAP10, ALDH3A1 +49 more	Copy number loss	not provided	GPathogenic
Select item 2685597	GRCh37/hg19 17p12-11.2(chr17:15694772-20582794)x1	ADORA2B, AKAP10 +61 more	Copy number loss	not provided	GPathogenic
Select item 2671583	Single allele	LGALS9C, MIR33B +30 more	Duplication	not provided	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 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 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 2506529	GRCh37/hg19 17p11.2(chr17:16664739-20370783)	MPRIP, NT5M +49 more	Copy number gain	Potocki-Lupski syndrome	GPathogenic
Select item 2498730	GRCh37/hg19 17p11.2(chr17:17116969-20217378)x1	AKAP10, ALDH3A1 +44 more	Copy number loss	not provided	GPathogenic
Select item 2473178	NM_004169.5(SHMT1):c.7A>G (p.Met3Val)	SHMT1 (M3V)	Single nucleotide variant (5 prime UTR variant +1 more)	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 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 2425820	NC_000017.10:g.(?_16842861)_(19578885_?)dup	ALDH3A2, ALKBH5 +42 more	Duplication	Familial aplasia of the vermis +2 more	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 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 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 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 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 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 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 1808657	GRCh37/hg19 17p11.2(chr17:17103571-19331028)x3	ALKBH5, ATPAF2 +38 more	Copy number gain	not provided	GPathogenic
Select item 1710929	GRCh37/hg19 17p11.2(chr17:16736709-20339460)x3	AKAP10, ALDH3A1 +47 more	Copy number gain	See cases	GUncertain significance
Select item 1703602	Single allele	ADORA2B, AKAP10 +78 more	Complex	PMP22-RAI1 contiguous gene duplication syndrome	GPathogenic
Select item 1703566	GRCh37/hg19 17p11.2(chr17:17151140-20187953)	AKAP10, ALDH3A1 +43 more	Copy number loss	Smith-Magenis syndrome	GPathogenic
Select item 1703565	GRCh37/hg19 17p11.2(chr17:16651292-20286898)	AKAP10, ALDH3A1 +48 more	Copy number loss	Smith-Magenis syndrome	GPathogenic
Select item 1703554	GRCh37/hg19 17p11.2(chr17:17579860-18469185)	ALKBH5, ATPAF2 +16 more	Copy number gain	Potocki-Lupski syndrome	GPathogenic
Select item 1675695	GRCh37/hg19 17p11.2(chr17:16664739-20217378)x1	GID4, GRAP +48 more	Copy number loss	not provided	GPathogenic
Select item 1330162	GRCh37/hg19 17p11.2(chr17:16829153-20361747)x3	AKAP10, ALDH3A1 +48 more	Copy number gain	Potocki-Lupski syndrome	GPathogenic
Select item 1047866	GRCh37/hg19 17p11.2(chr17:16601603-20063369)	AKAP10, ALDH3A1 +48 more	Copy number gain	Potocki-Lupski syndrome	GPathogenic
Select item 1047863	GRCh37/hg19 17p11.2(chr17:17145361-20137943)	AKAP10, ALDH3A1 +43 more	Copy number loss	Smith-Magenis syndrome	GPathogenic
Select item 980120	GRCh37/hg19 17p12-11.2(chr17:15810015-18537436)x1	ADORA2B, ALKBH5 +37 more	Copy number loss	not provided	GPathogenic
Select item 980116	GRCh37/hg19 17p11.2(chr17:18125256-18304190)x3	EVPLL, FLII +5 more	Copy number gain	not provided	GUncertain significance
Select item 980115	GRCh37/hg19 17p11.2(chr17:16763370-20395611)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	not provided	GPathogenic
Select item 980114	GRCh37/hg19 17p11.2(chr17:16761814-20330062)x3	SMCR8, SNORD3A +47 more	Copy number gain	not provided	GPathogenic
Select item 815908	GRCh37/hg19 17p12-11.2(chr17:15632431-18726389)x1	ADORA2B, ALKBH5 +42 more	Copy number loss	not provided	GPathogenic
Select item 790881	NM_004169.5(SHMT1):c.753G>C (p.Val251=)	SHMT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 784542	NM_004169.5(SHMT1):c.815-3C>T	SHMT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 781349	NM_004169.5(SHMT1):c.242+10T>C	SHMT1	Single nucleotide variant (intron variant)	not provided	GBenign
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 770264	NM_004169.5(SHMT1):c.2T>G (p.Met1Arg)	SHMT1 (M1R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 769910	NM_004169.5(SHMT1):c.1380C>T (p.Ala460=)	SHMT1	Single nucleotide variant (synonymous 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
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 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 735539	NM_004169.5(SHMT1):c.753G>A (p.Val251=)	SHMT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 718636	NM_004169.5(SHMT1):c.1054+6G>A	SHMT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 708739	NM_004169.5(SHMT1):c.2T>A (p.Met1Lys)	SHMT1 (M1K)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 638113	GRCh37/hg19 17p11.2(chr17:16908991-18322254)x1	ALKBH5, ATPAF2 +23 more	Copy number loss	See cases	GPathogenic
Select item 625730	GRCh37/hg19 17p11.2(chr17:16842991-20217316)	AKAP10, ALDH3A1 +47 more	Copy number loss	Smith-Magenis syndrome	GPathogenic
Select item 564413	GRCh37/hg19 17p11.2(chr17:17021607-20015978)x1	AKAP10, ALDH3A1 +46 more	Copy number loss	not provided	GPathogenic
Select item 564412	GRCh37/hg19 17p11.2(chr17:16999980-20298979)x1	AKAP10, ALDH3A1 +46 more	Copy number loss	not provided	GPathogenic
Select item 564411	GRCh37/hg19 17p11.2(chr17:16761814-20292897)x3	AKAP10, ALDH3A1 +47 more	Copy number gain	not provided	GPathogenic
Select item 564409	GRCh37/hg19 17p11.2(chr17:16741411-20430791)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	not provided	GPathogenic
Select item 564408	GRCh37/hg19 17p11.2(chr17:16727264-20310241)x1	GID4, GRAP +47 more	Copy number loss	not provided	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 523257	GRCh37/hg19 17p11.2(chr17:16842163-20217777)	COPS3, DRC3 +47 more	Copy number gain	Delayed gross motor development +3 more	GPathogenic
Select item 523256	GRCh37/hg19 17p11.2(chr17:16782546-20294038)	TRIM16L, MED9 +47 more	Copy number loss	Pes valgus +9 more	GPathogenic
Select item 496743	arr[hg19]17p11.2(16,757,111-20,219,651)x3	MYO15A, NT5M +47 more	Duplication	Potocki-Lupski syndrome	GPathogenic
Select item 443760	GRCh37/hg19 17p11.2(chr17:16761814-20339795)x3	AKAP10, ALDH3A1 +47 more	Copy number gain	See cases	GPathogenic
Select item 443148	GRCh37/hg19 17p11.2(chr17:16745600-20396173)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 442933	GRCh37/hg19 17p11.2(chr17:17200426-21900910)x1	B9D1, AKAP10 +51 more	Copy number loss	See cases	GPathogenic
Select item 442905	GRCh37/hg19 17p11.2(chr17:16651292-20437532)x3	AKAP10, ALDH3A1 +49 more	Copy number gain	See cases	GPathogenic
Select item 442795	GRCh37/hg19 17p11.2(chr17:16591260-20473937)x3	AKAP10, ALDH3A1 +49 more	Copy number gain	See cases	GPathogenic
Select item 442542	GRCh37/hg19 17p11.2(chr17:16741411-20410218)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 442368	GRCh37/hg19 17p11.2(chr17:16772264-20297091)x1	AKAP10, ALDH3A1 +47 more	Copy number loss	See cases	GPathogenic
Select item 442167	GRCh37/hg19 17p11.2(chr17:16738161-20338182)x3	AKAP10, ALDH3A1 +47 more	Copy number gain	See cases	GPathogenic
Select item 441899	GRCh37/hg19 17p11.2(chr17:16741411-20489023)x1	AKAP10, ALDH3A1 +49 more	Copy number loss	See cases	GPathogenic
Select item 441875	GRCh37/hg19 17p11.2(chr17:16727264-20395889)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 441841	GRCh37/hg19 17p11.2(chr17:16727264-20413564)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395659	GRCh37/hg19 17p11.2(chr17:16637902-20261250)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 395640	GRCh37/hg19 17p11.2(chr17:18265938-18284408)x3	EVPLL, SHMT1	Copy number gain	See cases	GBenign
Select item 394560	GRCh37/hg19 17p12-11.2(chr17:15745315-20261191)x1	ADORA2B, AKAP10 +59 more	Copy number loss	See cases	GPathogenic
Select item 394152	GRCh37/hg19 17p11.2(chr17:16757564-20261191)x1	AKAP10, ALDH3A1 +47 more	Copy number loss	See cases	GPathogenic
Select item 393895	GRCh37/hg19 17p11.2(chr17:16603130-20261191)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 393812	GRCh37/hg19 17p11.2(chr17:16740141-20261191)x3	AKAP10, ALDH3A1 +47 more	Copy number gain	See cases	GPathogenic
Select item 253648	GRCh37/hg19 17p11.2(chr17:16654302-20261250)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 253611	GRCh37/hg19 17p12-11.2(chr17:15767020-20261250)x3	ADORA2B, AKAP10 +59 more	Copy number gain	See cases	GPathogenic
Select item 253426	GRCh37/hg19 17p11.2(chr17:17053390-19893098)x1	EPN2, EVPLL +45 more	Copy number loss	See cases	GPathogenic
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 155648	GRCh38/hg38 17p11.2(chr17:16426633-20998588)x3	LOC130060361, LOC130060362 +281 more	Copy number gain	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 155529	GRCh38/hg38 17p11.2(chr17:16853120-20436482)x1	AKAP10, ALDH3A1 +243 more	Copy number loss	See cases	GPathogenic

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