C3280114[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 353728	NM_002203.3(ITGA2):c.-124G>A	ITGA2, ITGA2-AS1	Single nucleotide variant	not provided +1 more	GBenign
Select item 353729	NM_002203.4(ITGA2):c.-99G>C	ITGA2, ITGA2-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Platelet-type bleeding disorder 9	GUncertain significance
Select item 904497	NM_002203.4(ITGA2):c.-89T>A	ITGA2, ITGA2-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Platelet-type bleeding disorder 9	GUncertain significance
Select item 904498	NM_002203.4(ITGA2):c.-35C>T	ITGA2, ITGA2-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Platelet-type bleeding disorder 9	GUncertain significance
Select item 353730	NM_002203.4(ITGA2):c.-13G>A	ITGA2, ITGA2-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Platelet-type bleeding disorder 9	GBenign
Select item 353731	NM_002203.4(ITGA2):c.11A>G (p.Glu4Gly)	ITGA2, ITGA2-AS1 (E4G)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 9	GBenign
Select item 904499	NM_002203.4(ITGA2):c.123C>T (p.Ser41=)	ITGA2	Single nucleotide variant (synonymous variant +1 more)	Platelet-type bleeding disorder 9	GBenign
Select item 905281	NM_002203.4(ITGA2):c.171T>A (p.Asn57Lys)	ITGA2 (N57K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 353732	NM_002203.4(ITGA2):c.185+10T>C	ITGA2	Single nucleotide variant (intron variant)	ITGA2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 353733	NM_002203.4(ITGA2):c.227G>A (p.Arg76Gln)	ITGA2 (R76Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 729318	NM_002203.4(ITGA2):c.268G>A (p.Ala90Thr)	ITGA2 (A90T)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign
Select item 353734	NM_002203.4(ITGA2):c.327G>A (p.Met109Ile)	ITGA2 (M109I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 905282	NM_002203.4(ITGA2):c.502+12A>G	ITGA2	Single nucleotide variant (intron variant)	Platelet-type bleeding disorder 9	GUncertain significance
Select item 353735	NM_002203.4(ITGA2):c.517A>G (p.Ile173Val)	ITGA2 (I173V)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign/Likely benign
Select item 905283	NM_002203.4(ITGA2):c.573A>G (p.Val191=)	ITGA2	Single nucleotide variant (synonymous variant +1 more)	Platelet-type bleeding disorder 9	GUncertain significance
Select item 906879	NM_002203.4(ITGA2):c.602G>A (p.Gly201Asp)	ITGA2 (G201D)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GUncertain significance
Select item 353736	NM_002203.4(ITGA2):c.614G>T (p.Gly205Val)	ITGA2 (G205V)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GUncertain significance
Select item 353737	NM_002203.4(ITGA2):c.630+10A>G	ITGA2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 353738	NM_002203.4(ITGA2):c.633G>A (p.Val211=)	ITGA2	Single nucleotide variant (synonymous variant +1 more)	ITGA2-related condition +1 more	GBenign
Select item 353739	NM_002203.4(ITGA2):c.636G>T (p.Gly212=)	ITGA2	Single nucleotide variant (synonymous variant +1 more)	Platelet-type bleeding disorder 9	GBenign
Select item 353740	NM_002203.4(ITGA2):c.756A>C (p.Thr252=)	ITGA2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 353741	NM_002203.4(ITGA2):c.759C>T (p.Phe253=)	ITGA2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 353742	NM_002203.4(ITGA2):c.780-11A>T	ITGA2	Single nucleotide variant (intron variant)	Platelet-type bleeding disorder 9	GLikely benign
Select item 353743	NM_002203.4(ITGA2):c.789T>C (p.Ala263=)	ITGA2	Single nucleotide variant (synonymous variant +1 more)	Platelet-type bleeding disorder 9	GBenign
Select item 353744	NM_002203.4(ITGA2):c.825G>A (p.Thr275=)	ITGA2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 353745	NM_002203.4(ITGA2):c.849C>T (p.Asp283=)	ITGA2	Single nucleotide variant (synonymous variant +1 more)	Platelet-type bleeding disorder 9	GBenign
Select item 907871	NM_002203.4(ITGA2):c.871A>T (p.Met291Leu)	ITGA2 (M291L)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 9	GBenign
Select item 353746	NM_002203.4(ITGA2):c.955G>A (p.Ala319Thr)	ITGA2 (A319T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 353747	NM_002203.4(ITGA2):c.993A>G (p.Ala331=)	ITGA2	Single nucleotide variant (non-coding transcript variant +1 more)	Platelet-type bleeding disorder 9	GBenign
Select item 907872	NM_002203.4(ITGA2):c.996C>T (p.Ile332=)	ITGA2	Single nucleotide variant (synonymous variant +1 more)	Platelet-type bleeding disorder 9	GBenign
Select item 353748	NM_002203.4(ITGA2):c.1096+11dup	ITGA2	Duplication (intron variant)	Platelet-type bleeding disorder 9	GLikely benign
Select item 353749	NM_002203.4(ITGA2):c.1108G>A (p.Gly370Arg)	ITGA2 (G370R)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 9	GUncertain significance
Select item 904557	NM_002203.4(ITGA2):c.1141G>A (p.Val381Met)	ITGA2 (V381M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 904558	NM_002203.4(ITGA2):c.1176T>C (p.Asp392=)	ITGA2	Single nucleotide variant (synonymous variant +1 more)	Platelet-type bleeding disorder 9	GLikely benign
Select item 353750	NM_002203.4(ITGA2):c.1189G>A (p.Gly397Ser)	ITGA2 (G397S)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 9	GLikely benign
Select item 353751	NM_002203.4(ITGA2):c.1312+12T>C	ITGA2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 904559	NM_002203.4(ITGA2):c.1372C>T (p.Arg458Trp)	ITGA2 (R458W)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 9	GBenign
Select item 904560	NM_002203.4(ITGA2):c.1441G>A (p.Ala481Thr)	ITGA2 (A481T)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 9	GUncertain significance
Select item 904561	NM_002203.4(ITGA2):c.1524G>A (p.Val508=)	ITGA2	Single nucleotide variant (synonymous variant +1 more)	Platelet-type bleeding disorder 9	GLikely benign
Select item 353752	NM_002203.4(ITGA2):c.1594A>C (p.Ile532Leu)	ITGA2 (I532L)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign/Likely benign
Select item 353753	NM_002203.4(ITGA2):c.1600G>A (p.Glu534Lys)	ITGA2 (E534K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 353754	NM_002203.4(ITGA2):c.1602+15dup	ITGA2	Duplication (intron variant)	Platelet-type bleeding disorder 9	GUncertain significance
Select item 353755	NM_002203.4(ITGA2):c.1602+3A>G	ITGA2	Single nucleotide variant (intron variant)	Platelet-type bleeding disorder 9	GBenign
Select item 353756	NM_002203.4(ITGA2):c.1638C>T (p.Pro546=)	ITGA2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 353757	NM_002203.4(ITGA2):c.1789C>T (p.Arg597Cys)	ITGA2 (R597C)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 9	GLikely benign
Select item 353758	NM_002203.4(ITGA2):c.1807-6T>C	ITGA2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 353759	NM_002203.4(ITGA2):c.1958C>A (p.Ala653Asp)	ITGA2 (A653D)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 9	GUncertain significance
Select item 353760	NM_002203.4(ITGA2):c.2069A>G (p.Gln690Arg)	ITGA2 (Q690R)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 9	GUncertain significance
Select item 353761	NM_002203.4(ITGA2):c.2099T>C (p.Ile700Thr)	ITGA2 (I700T)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 9	GBenign
Select item 906962	NM_002203.4(ITGA2):c.2235G>T (p.Gln745His)	ITGA2 (Q745H)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 9	GUncertain significance
Select item 353762	NM_002203.4(ITGA2):c.2241C>T (p.Pro747=)	ITGA2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 353763	NM_002203.4(ITGA2):c.2376C>T (p.Asp792=)	ITGA2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 353764	NM_002203.4(ITGA2):c.2377G>A (p.Gly793Arg)	ITGA2 (G793R)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 9	GBenign
Select item 353765	NM_002203.4(ITGA2):c.2429A>G (p.Gln810Arg)	ITGA2 (Q810R)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 9	GBenign
Select item 353766	NM_002203.4(ITGA2):c.2434C>A (p.Gln812Lys)	ITGA2 (Q812K)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 9	GLikely benign
Select item 353767	NM_002203.4(ITGA2):c.2483C>T (p.Thr828Met)	ITGA2 (T828M)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 9	GBenign
Select item 353768	NM_002203.4(ITGA2):c.2484G>A (p.Thr828=)	ITGA2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 907936	NM_002203.4(ITGA2):c.2485C>G (p.Leu829Val)	ITGA2 (L829V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 353769	NM_002203.4(ITGA2):c.2503A>G (p.Ser835Gly)	ITGA2 (S835G)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 9	GLikely benign
Select item 353770	NM_002203.4(ITGA2):c.2568G>A (p.Leu856=)	ITGA2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 907937	NM_002203.4(ITGA2):c.2571+15C>G	ITGA2	Single nucleotide variant (intron variant)	Platelet-type bleeding disorder 9	GLikely benign
Select item 907938	NM_002203.4(ITGA2):c.2608T>C (p.Ser870Pro)	ITGA2 (S870P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 353771	NM_002203.4(ITGA2):c.2674A>C (p.Thr892Pro)	ITGA2 (T892P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 353772	NM_002203.4(ITGA2):c.2678T>C (p.Ile893Thr)	ITGA2 (I893T)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign/Likely benign
Select item 353773	NM_002203.4(ITGA2):c.2718G>A (p.Ala906=)	ITGA2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 904635	NM_002203.4(ITGA2):c.2730C>T (p.Phe910=)	ITGA2	Single nucleotide variant (synonymous variant +1 more)	Platelet-type bleeding disorder 9	GUncertain significance
Select item 904636	NM_002203.4(ITGA2):c.2742-4A>G	ITGA2	Single nucleotide variant (intron variant)	Platelet-type bleeding disorder 9	GBenign
Select item 353774	NM_002203.4(ITGA2):c.2780A>G (p.Asn927Ser)	ITGA2 (N927S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 904637	NM_002203.4(ITGA2):c.2796C>G (p.Leu932=)	ITGA2	Single nucleotide variant (synonymous variant +1 more)	Platelet-type bleeding disorder 9	GUncertain significance
Select item 353775	NM_002203.4(ITGA2):c.2826-12A>T	ITGA2	Single nucleotide variant (intron variant)	Platelet-type bleeding disorder 9	GUncertain significance
Select item 904638	NM_002203.4(ITGA2):c.2914A>T (p.Ile972Phe)	ITGA2 (I972F)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 9	GUncertain significance
Select item 904639	NM_002203.4(ITGA2):c.3003C>A (p.Asn1001Lys)	ITGA2 (N1001K)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 9	GBenign
Select item 353776	NM_002203.4(ITGA2):c.3021T>G (p.Thr1007=)	ITGA2	Single nucleotide variant (synonymous variant +1 more)	ITGA2-related condition +1 more	GBenign/Likely benign
Select item 905426	NM_002203.4(ITGA2):c.3034G>A (p.Asp1012Asn)	ITGA2 (D1012N)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 9	GBenign
Select item 353777	NM_002203.4(ITGA2):c.3110del (p.Phe1037fs)	ITGA2 (F1037fs)	Deletion (frameshift variant +1 more)	Platelet-type bleeding disorder 9	GUncertain significance
Select item 353778	NM_002203.4(ITGA2):c.3154A>T (p.Thr1052Ser)	ITGA2 (T1052S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 353779	NM_002203.4(ITGA2):c.3252C>T (p.Phe1084=)	ITGA2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 353780	NM_002203.4(ITGA2):c.3324T>C (p.Tyr1108=)	ITGA2	Single nucleotide variant (synonymous variant +1 more)	Platelet-type bleeding disorder 9	GBenign
Select item 353781	NM_002203.4(ITGA2):c.3379A>C (p.Lys1127Gln)	ITGA2 (K1127Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 353782	NM_002203.4(ITGA2):c.3518T>C (p.Ile1173Thr)	ITGA2 (I1173T)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign/Likely benign
Select item 353783	NM_002203.4(ITGA2):c.*29G>A	ITGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9	GBenign
Select item 353784	NM_002203.4(ITGA2):c.*35A>C	ITGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9	GBenign
Select item 353786	NM_002203.4(ITGA2):c.*60G>T	ITGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9	GUncertain significance
Select item 353785	NM_002203.4(ITGA2):c.*60G>A	ITGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9	GUncertain significance
Select item 905942	NM_002203.4(ITGA2):c.*67G>C	ITGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9	GUncertain significance
Select item 353787	NM_002203.4(ITGA2):c.*95dup	ITGA2	Duplication (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9	GLikely benign
Select item 353788	NM_002203.4(ITGA2):c.*208G>A	ITGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9	GBenign
Select item 353789	NM_002203.4(ITGA2):c.*236del	ITGA2	Deletion (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9	GLikely benign
Select item 905943	NM_002203.4(ITGA2):c.*298A>G	ITGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9	GUncertain significance
Select item 905944	NM_002203.4(ITGA2):c.*422C>T	ITGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9	GUncertain significance
Select item 353790	NM_002203.4(ITGA2):c.*430G>C	ITGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9	GUncertain significance
Select item 353791	NM_002203.4(ITGA2):c.*462A>C	ITGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9	GBenign
Select item 908011	NM_002203.4(ITGA2):c.*465T>C	ITGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9	GUncertain significance
Select item 353792	NM_002203.4(ITGA2):c.475_477del	ITGA2, MOCS2	Deletion (3 prime UTR variant +1 more)	Combined molybdoflavoprotein enzyme deficiency +1 more	GBenign
Select item 353793	NM_002203.4(ITGA2):c.*483del	ITGA2	Deletion (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9	GUncertain significance
Select item 908012	NM_002203.4(ITGA2):c.*483G>A	ITGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9	GUncertain significance
Select item 353794	NM_002203.4(ITGA2):c.*609T>G	ITGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9	GUncertain significance
Select item 353795	NM_002203.4(ITGA2):c.*613C>T	ITGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9	GUncertain significance
Select item 908013	NM_002203.4(ITGA2):c.*661T>A	ITGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9	GUncertain significance
Select item 908014	NM_002203.4(ITGA2):c.*682A>G	ITGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9	GBenign

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