C0751748[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 166

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 346021	NM_000481.4(AMT):c.*696C>T	AMT	Single nucleotide variant (3 prime UTR variant +1 more)	Non-ketotic hyperglycinemia	GBenign
Select item 346022	NM_000481.4(AMT):c.*678C>G	AMT	Single nucleotide variant (3 prime UTR variant +1 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 899656	NM_000481.4(AMT):c.*621A>G	AMT	Single nucleotide variant (3 prime UTR variant +1 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 899657	NM_000481.4(AMT):c.*616C>T	AMT	Single nucleotide variant (3 prime UTR variant +1 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 346023	NM_000481.4(AMT):c.*545C>T	AMT	Single nucleotide variant (3 prime UTR variant +1 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 346024	NM_000481.4(AMT):c.*424G>C	AMT	Single nucleotide variant (3 prime UTR variant +1 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 900802	NM_000481.4(AMT):c.*416C>T	AMT	Single nucleotide variant (3 prime UTR variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 346025	NM_000481.4(AMT):c.*407T>C	AMT	Single nucleotide variant (non-coding transcript variant +1 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 346026	NM_000481.4(AMT):c.*163G>C	AMT	Single nucleotide variant (3 prime UTR variant +2 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 346027	NM_000481.4(AMT):c.*130G>T	AMT	Single nucleotide variant (3 prime UTR variant +2 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 900803	NM_000481.4(AMT):c.1199A>G (p.Tyr400Cys)	AMT (Y400C +2 more)	Single nucleotide variant (missense variant +2 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 346028	NM_000481.4(AMT):c.1190C>A (p.Thr397Lys)	AMT (T397K +2 more)	Single nucleotide variant (missense variant +2 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 235658	NM_000481.4(AMT):c.1145G>A (p.Arg382Gln)	AMT (R382Q +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 900804	NM_000481.4(AMT):c.1136A>C (p.Glu379Ala)	AMT (E335A +2 more)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia +1 more	GUncertain significance
Select item 531761	NM_000481.4(AMT):c.1112G>A (p.Arg371His)	AMT (R371H +2 more)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia +1 more	GConflicting classifications of pathogenicity
Select item 346029	NM_000481.4(AMT):c.961G>A (p.Val321Met)	AMT (V321M +2 more)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GConflicting classifications of pathogenicity
Select item 256240	NM_000481.4(AMT):c.954G>A (p.Arg318=)	AMT	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 235608	NM_000481.4(AMT):c.898A>G (p.Met300Val)	AMT (M300V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 346030	NM_000481.4(AMT):c.858C>A (p.Gly286=)	AMT	Single nucleotide variant (synonymous variant +1 more)	AMT-related condition +2 more	GConflicting classifications of pathogenicity
Select item 346031	NM_000481.4(AMT):c.825T>A (p.Asn275Lys)	AMT (N275K +2 more)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GConflicting classifications of pathogenicity
Select item 902473	NM_000481.4(AMT):c.750C>T (p.Asn250=)	AMT	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GConflicting classifications of pathogenicity
Select item 531773	NM_000481.4(AMT):c.697-3C>T	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 531771	NM_000481.4(AMT):c.635T>C (p.Val212Ala)	AMT (V212A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 462898	NM_000481.4(AMT):c.631G>A (p.Glu211Lys)	AMT (E211K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 766817	NM_000481.4(AMT):c.589G>C (p.Asp197His)	AMT (D153H +2 more)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GConflicting classifications of pathogenicity
Select item 346032	NM_000481.4(AMT):c.513C>T (p.Gly171=)	AMT	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia +1 more	GConflicting classifications of pathogenicity
Select item 346033	NM_000481.4(AMT):c.503G>C (p.Arg168Thr)	AMT (R168T +2 more)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 346034	NM_000481.4(AMT):c.471+12_471+13del	AMT	Microsatellite (intron variant)	Non-ketotic hyperglycinemia	GConflicting classifications of pathogenicity
Select item 56233	NM_000481.4(AMT):c.471+2T>C	AMT	Single nucleotide variant (intron variant +1 more)	Non-ketotic hyperglycinemia	GPathogenic
Select item 903334	NM_000481.4(AMT):c.403A>G (p.Thr135Ala)	AMT (T79A +1 more)	Single nucleotide variant (missense variant +2 more)	Non-ketotic hyperglycinemia +1 more	GUncertain significance
Select item 256239	NM_000481.4(AMT):c.354G>A (p.Leu118=)	AMT	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 903335	NM_000481.4(AMT):c.339+3G>A	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 346035	NM_000481.4(AMT):c.195C>T (p.His65=)	AMT	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 899722	NM_000481.4(AMT):c.194A>G (p.His65Arg)	AMT (H65R)	Single nucleotide variant (missense variant +2 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 346036	NM_000481.4(AMT):c.153G>A (p.Ala51=)	AMT	Single nucleotide variant (synonymous variant +2 more)	Non-ketotic hyperglycinemia	GConflicting classifications of pathogenicity
Select item 346037	NM_000481.4(AMT):c.152C>T (p.Ala51Val)	AMT (A51V)	Single nucleotide variant (missense variant +2 more)	Non-ketotic hyperglycinemia +1 more	GConflicting classifications of pathogenicity
Select item 645153	NM_000481.4(AMT):c.148G>T (p.Val50Leu)	AMT (V50L)	Single nucleotide variant (missense variant +2 more)	Non-ketotic hyperglycinemia	GConflicting classifications of pathogenicity
Select item 531783	NM_000481.4(AMT):c.101G>A (p.Arg34His)	AMT (R34H)	Single nucleotide variant (missense variant +1 more)	AMT-related condition +2 more	GConflicting classifications of pathogenicity
Select item 508506	NM_000481.4(AMT):c.91-9C>T	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia +1 more	GConflicting classifications of pathogenicity
Select item 899723	NM_000481.4(AMT):c.86C>T (p.Ala29Val)	AMT, NICN1 (A29V)	Single nucleotide variant (missense variant +2 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 346038	NM_000481.4(AMT):c.84C>T (p.Cys28=)	AMT, NICN1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 804522	NM_000481.4(AMT):c.-1G>A	AMT, NICN1	Single nucleotide variant (5 prime UTR variant +2 more)	Non-ketotic hyperglycinemia +1 more	GBenign
Select item 346039	NM_032316.3(NICN1):c.*2307G>C	AMT, NICN1	Single nucleotide variant (3 prime UTR variant)	Non-ketotic hyperglycinemia	GConflicting classifications of pathogenicity
Select item 900876	NM_032316.3(NICN1):c.*2283C>G	AMT, NICN1	Single nucleotide variant (3 prime UTR variant)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 900875	NM_032316.3(NICN1):c.*2283C>T	AMT, NICN1	Single nucleotide variant (3 prime UTR variant)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 346040	NM_032316.3(NICN1):c.*2266dup	AMT, NICN1	Duplication (3 prime UTR variant)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 346041	NM_032316.3(NICN1):c.*2247T>C	AMT, NICN1	Single nucleotide variant (3 prime UTR variant)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 346042	NM_032316.3(NICN1):c.*2177G>A	AMT, NICN1	Single nucleotide variant (3 prime UTR variant)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 900877	NM_032316.3(NICN1):c.*2157G>A	AMT, NICN1	Single nucleotide variant (3 prime UTR variant)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 369630	NM_000170.2(GLDC):c.*557C>G	GLDC	Single nucleotide variant	Non-ketotic hyperglycinemia	GLikely benign
Select item 367161	NM_000170.3(GLDC):c.*546C>T	GLDC	Single nucleotide variant (3 prime UTR variant)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 367162	NM_000170.3(GLDC):c.*540C>T	GLDC	Single nucleotide variant (3 prime UTR variant)	Non-ketotic hyperglycinemia	GBenign
Select item 367163	NM_000170.3(GLDC):c.505_506del	GLDC	Deletion (3 prime UTR variant)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 915251	NM_000170.3(GLDC):c.*496T>G	GLDC	Single nucleotide variant (3 prime UTR variant)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 367164	NM_000170.3(GLDC):c.*473C>T	GLDC	Single nucleotide variant (3 prime UTR variant)	Non-ketotic hyperglycinemia	GBenign
Select item 915252	NM_000170.3(GLDC):c.*410G>A	GLDC	Single nucleotide variant (3 prime UTR variant)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 367165	NM_000170.3(GLDC):c.*410G>C	GLDC	Single nucleotide variant (3 prime UTR variant)	Non-ketotic hyperglycinemia	GBenign
Select item 912559	NM_000170.3(GLDC):c.*378G>T	GLDC	Single nucleotide variant (3 prime UTR variant)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 912560	NM_000170.3(GLDC):c.*345G>T	GLDC	Single nucleotide variant (3 prime UTR variant)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 367166	NM_000170.3(GLDC):c.*257G>A	GLDC	Single nucleotide variant (3 prime UTR variant)	Non-ketotic hyperglycinemia +1 more	GLikely benign
Select item 912561	NM_000170.3(GLDC):c.*236G>T	GLDC	Single nucleotide variant (3 prime UTR variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 367167	NM_000170.3(GLDC):c.*235T>G	GLDC	Single nucleotide variant (3 prime UTR variant)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 912562	NM_000170.3(GLDC):c.*229C>G	GLDC	Single nucleotide variant (3 prime UTR variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 367168	NM_000170.3(GLDC):c.*188C>T	GLDC	Single nucleotide variant (3 prime UTR variant)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 367169	NM_000170.3(GLDC):c.*115A>T	GLDC	Single nucleotide variant (3 prime UTR variant)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 255452	NM_000170.3(GLDC):c.*7G>C	GLDC	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign
Select item 367170	NM_000170.3(GLDC):c.*5C>G	GLDC	Single nucleotide variant (3 prime UTR variant)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 913663	NM_000170.3(GLDC):c.2991C>G (p.His997Gln)	GLDC (H997Q)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 367171	NM_000170.3(GLDC):c.2988G>C (p.Gln996His)	GLDC (Q996H)	Single nucleotide variant (missense variant)	GLDC-related condition +3 more	GConflicting classifications of pathogenicity
Select item 462883	NM_000170.3(GLDC):c.2964G>A (p.Arg988=)	GLDC	Single nucleotide variant (synonymous variant)	Non-ketotic hyperglycinemia +1 more	GConflicting classifications of pathogenicity
Select item 462882	NM_000170.3(GLDC):c.2955G>A (p.Thr985=)	GLDC	Single nucleotide variant (synonymous variant)	Non-ketotic hyperglycinemia +2 more	GConflicting classifications of pathogenicity
Select item 367172	NM_000170.3(GLDC):c.2947T>C (p.Trp983Arg)	GLDC (W983R)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 649372	NM_000170.3(GLDC):c.2926G>A (p.Val976Met)	GLDC (V976M)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 914059	NM_000170.3(GLDC):c.2925C>T (p.Phe975=)	GLDC	Single nucleotide variant (synonymous variant)	Non-ketotic hyperglycinemia	GConflicting classifications of pathogenicity
Select item 702301	NM_000170.3(GLDC):c.2920-8C>T	GLDC	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 367173	NM_000170.3(GLDC):c.2919+3A>G	GLDC	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 367174	NM_000170.3(GLDC):c.2919C>T (p.Leu973=)	GLDC	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 772587	NM_000170.3(GLDC):c.2874C>T (p.Ser958=)	GLDC	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 554247	NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr)	GLDC (S951Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 367175	NM_000170.3(GLDC):c.2748G>A (p.Leu916=)	GLDC	Single nucleotide variant (synonymous variant)	Non-ketotic hyperglycinemia +1 more	GBenign/Likely benign
Select item 914569	NM_000170.3(GLDC):c.2742A>T (p.Ala914=)	GLDC	Single nucleotide variant (synonymous variant)	Non-ketotic hyperglycinemia	GConflicting classifications of pathogenicity
Select item 367176	NM_000170.3(GLDC):c.2730G>A (p.Ser910=)	GLDC	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 367177	NM_000170.3(GLDC):c.2683A>G (p.Met895Val)	GLDC (M895V)	Single nucleotide variant (missense variant)	GLDC-related condition +2 more	GConflicting classifications of pathogenicity
Select item 367178	NM_000170.3(GLDC):c.2650A>G (p.Arg884Gly)	GLDC (R884G)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 642534	NM_000170.3(GLDC):c.2570G>A (p.Gly857Asp)	GLDC (G857D)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 914570	NM_000170.3(GLDC):c.2570-10T>C	GLDC	Single nucleotide variant (intron variant)	GLDC-related condition +2 more	GConflicting classifications of pathogenicity
Select item 367179	NM_000170.3(GLDC):c.2564C>T (p.Ala855Val)	GLDC (A855V)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 367180	NM_000170.3(GLDC):c.2518A>G (p.Met840Val)	GLDC (M840V)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 462874	NM_000170.3(GLDC):c.2490G>T (p.Thr830=)	GLDC	Single nucleotide variant (synonymous variant)	Non-ketotic hyperglycinemia +1 more	GBenign/Likely benign
Select item 462873	NM_000170.3(GLDC):c.2487C>T (p.Ala829=)	GLDC	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 912612	NM_000170.3(GLDC):c.2402G>A (p.Ser801Asn)	GLDC (S801N)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 255455	NM_000170.3(GLDC):c.2380G>A (p.Ala794Thr)	GLDC (A794T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 706140	NM_000170.3(GLDC):c.2328C>T (p.Leu776=)	GLDC	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 255454	NM_000170.3(GLDC):c.2316-6dup	GLDC	Duplication (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 665488	NM_000170.3(GLDC):c.2230G>A (p.Gly744Arg)	GLDC (G744R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 367181	NM_000170.3(GLDC):c.2203G>T (p.Val735Leu)	GLDC (V735L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 912613	NM_000170.3(GLDC):c.2166A>G (p.Gly722=)	GLDC	Single nucleotide variant (synonymous variant)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 367182	NM_000170.3(GLDC):c.2149A>G (p.Ile717Val)	GLDC (I717V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 913710	NM_000170.3(GLDC):c.2148C>T (p.Leu716=)	GLDC	Single nucleotide variant (synonymous variant)	Non-ketotic hyperglycinemia	GConflicting classifications of pathogenicity
Select item 367183	NM_000170.3(GLDC):c.2147T>A (p.Leu716His)	GLDC (L716H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

<< First< Prev

Page of 2