C1969623[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 315724	NM_152594.3(SPRED1):c.-309C>T	SPRED1	Single nucleotide variant (5 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 315725	NM_152594.3(SPRED1):c.-294C>T	SPRED1	Single nucleotide variant (5 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 315726	NM_152594.3(SPRED1):c.-244T>C	LOC130056788, SPRED1	Single nucleotide variant (5 prime UTR variant)	Legius syndrome	GBenign
Select item 315727	NM_152594.3(SPRED1):c.-201G>A	LOC130056788, SPRED1	Single nucleotide variant (5 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 315728	NM_152594.3(SPRED1):c.-191C>T	SPRED1	Single nucleotide variant (5 prime UTR variant)	Legius syndrome	GLikely benign
Select item 886069	NM_152594.3(SPRED1):c.-175G>T	LOC130056789, SPRED1	Single nucleotide variant (5 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 315729	NM_152594.3(SPRED1):c.-156del	LOC130056789, SPRED1	Deletion (5 prime UTR variant)	Legius syndrome	GLikely benign
Select item 315730	NM_152594.3(SPRED1):c.-152C>A	LOC130056789, SPRED1	Single nucleotide variant (5 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 886070	NM_152594.3(SPRED1):c.-114G>A	SPRED1	Single nucleotide variant (5 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 315731	NM_152594.3(SPRED1):c.-93C>T	SPRED1	Single nucleotide variant (5 prime UTR variant)	Noonan syndrome and Noonan-related syndrome +1 more	GBenign
Select item 315732	NM_152594.3(SPRED1):c.-87C>T	SPRED1	Single nucleotide variant (5 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 887069	NM_152594.3(SPRED1):c.-24A>G	SPRED1	Single nucleotide variant (5 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 415718	NM_152594.3(SPRED1):c.30C>A (p.Asn10Lys)	SPRED1 (N10K)	Single nucleotide variant (missense variant)	Legius syndrome +4 more	GBenign/Likely benign
Select item 887070	NM_152594.3(SPRED1):c.170A>G (p.Asp57Gly)	SPRED1 (D57G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 887071	NM_152594.3(SPRED1):c.197G>C (p.Arg66Thr)	SPRED1 (R66T)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 41371	NM_152594.3(SPRED1):c.291G>A (p.Lys97=)	SPRED1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 888348	NM_152594.3(SPRED1):c.371C>T (p.Ser124Phe)	SPRED1 (S124F)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 41453	NM_152594.3(SPRED1):c.424-8C>A	SPRED1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 315733	NM_152594.3(SPRED1):c.564G>A (p.Met188Ile)	SPRED1 (M188I)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 315734	NM_152594.3(SPRED1):c.565C>A (p.Gln189Lys)	SPRED1 (Q189K)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 47969	NM_152594.3(SPRED1):c.583-7A>G	SPRED1	Single nucleotide variant (intron variant)	SPRED1-related condition +4 more	GBenign/Likely benign
Select item 229269	NM_152594.3(SPRED1):c.587C>T (p.Thr196Ile)	SPRED1 (T196I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 47970	NM_152594.3(SPRED1):c.675C>T (p.Ser225=)	SPRED1	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 165293	NM_152594.3(SPRED1):c.702C>G (p.Ile234Met)	SPRED1 (I234M)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 315735	NM_152594.3(SPRED1):c.707A>G (p.His236Arg)	SPRED1 (H236R)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 315736	NM_152594.3(SPRED1):c.881A>T (p.Tyr294Phe)	SPRED1 (Y294F)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 178134	NM_152594.3(SPRED1):c.926T>C (p.Val309Ala)	SPRED1 (V309A)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 241992	NM_152594.3(SPRED1):c.939G>A (p.Thr313=)	SPRED1	Single nucleotide variant (synonymous variant)	Legius syndrome +4 more	GBenign/Likely benign
Select item 468801	NM_152594.3(SPRED1):c.944C>T (p.Pro315Leu)	SPRED1 (P315L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 315737	NM_152594.3(SPRED1):c.963G>A (p.Lys321=)	SPRED1	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 885239	NM_152594.3(SPRED1):c.973C>G (p.Arg325Gly)	SPRED1 (R325G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 315738	NM_152594.3(SPRED1):c.1000C>T (p.Arg334Cys)	SPRED1 (R334C)	Single nucleotide variant (missense variant)	Legius syndrome +2 more	GUncertain significance
Select item 41370	NM_152594.3(SPRED1):c.1044T>C (p.Val348=)	SPRED1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 886132	NM_152594.3(SPRED1):c.1085G>A (p.Cys362Tyr)	SPRED1 (C362Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 886133	NM_152594.3(SPRED1):c.1098T>G (p.Val366=)	SPRED1	Single nucleotide variant (synonymous variant)	Legius syndrome	GUncertain significance
Select item 886134	NM_152594.3(SPRED1):c.*105A>G	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 315739	NM_152594.3(SPRED1):c.*149G>A	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 315740	NM_152594.3(SPRED1):c.*248T>C	SPRED1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 315741	NM_152594.3(SPRED1):c.*256C>T	SPRED1	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome and Noonan-related syndrome +2 more	GBenign/Likely benign
Select item 887144	NM_152594.3(SPRED1):c.*383G>A	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 315742	NM_152594.3(SPRED1):c.*427A>T	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GBenign
Select item 315743	NM_152594.3(SPRED1):c.*565A>C	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 315746	NM_152594.3(SPRED1):c.*578AT[13]	SPRED1	Microsatellite (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 315745	NM_152594.3(SPRED1):c.*578AT[12]	SPRED1	Microsatellite (3 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 315744	NM_152594.3(SPRED1):c.*578AT[11]	SPRED1	Microsatellite (3 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 315747	NM_152594.3(SPRED1):c.*578AT[8]	SPRED1	Microsatellite (3 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 887145	NM_152594.3(SPRED1):c.*581T>C	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GLikely benign
Select item 887146	NM_152594.3(SPRED1):c.*632C>T	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 887147	NM_152594.3(SPRED1):c.*633A>G	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GLikely benign
Select item 315748	NM_152594.3(SPRED1):c.*810A>G	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 888404	NM_152594.3(SPRED1):c.*936C>A	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 315749	NM_152594.3(SPRED1):c.*1040G>A	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GLikely benign
Select item 888405	NM_152594.3(SPRED1):c.*1095A>G	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 315750	NM_152594.3(SPRED1):c.*1337A>C	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 315751	NM_152594.3(SPRED1):c.*1400G>A	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 315752	NM_152594.3(SPRED1):c.*1563C>T	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 315753	NM_152594.3(SPRED1):c.1659_1662del	SPRED1	Deletion (3 prime UTR variant)	Legius syndrome	GLikely benign
Select item 315754	NM_152594.3(SPRED1):c.*1724A>C	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GBenign
Select item 888406	NM_152594.3(SPRED1):c.*1727G>T	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 315755	NM_152594.3(SPRED1):c.*1747A>C	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 315756	NM_152594.3(SPRED1):c.*1798A>C	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 885295	NM_152594.3(SPRED1):c.*1833A>C	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 315757	NM_152594.3(SPRED1):c.*1897C>T	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 885296	NM_152594.3(SPRED1):c.*1967C>T	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 885297	NM_152594.3(SPRED1):c.*2018T>G	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GLikely benign
Select item 885298	NM_152594.3(SPRED1):c.*2117A>G	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 885299	NM_152594.3(SPRED1):c.*2247A>G	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GLikely benign
Select item 885300	NM_152594.3(SPRED1):c.*2251G>A	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 886200	NM_152594.3(SPRED1):c.*2323T>C	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 315758	NM_152594.3(SPRED1):c.*2359G>C	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 886201	NM_152594.3(SPRED1):c.*2398T>G	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 315759	NM_152594.3(SPRED1):c.*2414del	SPRED1	Deletion (3 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 886202	NM_152594.3(SPRED1):c.*2420T>C	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 886203	NM_152594.3(SPRED1):c.*2422A>G	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 886204	NM_152594.3(SPRED1):c.*2444T>A	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 315760	NM_152594.3(SPRED1):c.2506_2513del	SPRED1	Deletion (3 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 886205	NM_152594.3(SPRED1):c.*2539A>T	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 315761	NM_152594.3(SPRED1):c.*2570T>C	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GLikely benign
Select item 887204	NM_152594.3(SPRED1):c.*2611C>T	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GLikely benign
Select item 887205	NM_152594.3(SPRED1):c.*2742G>T	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GBenign
Select item 315762	NM_152594.3(SPRED1):c.*2831G>A	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GBenign
Select item 315763	NM_152594.3(SPRED1):c.*2843A>C	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 887206	NM_152594.3(SPRED1):c.*2853A>G	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 315764	NM_152594.3(SPRED1):c.*2885G>A	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GLikely benign
Select item 887207	NM_152594.3(SPRED1):c.*2990T>C	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 315765	NM_152594.3(SPRED1):c.*3057A>G	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GLikely benign
Select item 315766	NM_152594.3(SPRED1):c.*3192G>A	SPRED1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 888459	NM_152594.3(SPRED1):c.*3289C>T	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 888460	NM_152594.3(SPRED1):c.*3323C>T	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 888461	NM_152594.3(SPRED1):c.*3340G>A	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 888462	NM_152594.3(SPRED1):c.*3395G>A	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 315767	NM_152594.3(SPRED1):c.*3521A>G	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GBenign
Select item 888463	NM_152594.3(SPRED1):c.*3536C>G	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 888464	NM_152594.3(SPRED1):c.*3543C>T	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 315768	NM_152594.3(SPRED1):c.*3544G>A	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 884236	NM_152594.3(SPRED1):c.*3561G>A	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GLikely benign
Select item 315769	NM_152594.3(SPRED1):c.*3584G>A	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 315770	NM_152594.3(SPRED1):c.*3591C>T	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GLikely benign
Select item 315771	NM_152594.3(SPRED1):c.*3623G>T	SPRED1	Single nucleotide variant (3 prime UTR variant)	Legius syndrome	GLikely benign
Select item 315772	NM_152594.3(SPRED1):c.*3647T>G	SPRED1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity

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