C1861185[trait identifier] AND "Genetic Services Laboratory, Universit - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 434206	NM_014915.3(ANKRD26):c.4636G>C (p.Asp1546His)	ANKRD26 (D1546H +1 more)	Single nucleotide variant (missense variant)	Thrombocytopenia 2 +3 more	GConflicting classifications of pathogenicity
Select item 877210	NM_014915.3(ANKRD26):c.4490T>A (p.Val1497Asp)	ANKRD26 (V1496D +1 more)	Single nucleotide variant (missense variant)	Thrombocytopenia 2 +2 more	GBenign/Likely benign
Select item 210184	NM_014915.3(ANKRD26):c.4259G>A (p.Cys1420Tyr)	ANKRD26 (C1420Y +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 299731	NM_014915.3(ANKRD26):c.4188T>C (p.Asp1396=)	ANKRD26	Single nucleotide variant (synonymous variant)	Thrombocytopenia 2 +3 more	GBenign/Likely benign
Select item 260469	NM_014915.3(ANKRD26):c.4145T>A (p.Phe1382Tyr)	ANKRD26 (F1382Y +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1337931	NM_014915.3(ANKRD26):c.3761A>G (p.Asp1254Gly)	ANKRD26 (D1253G +1 more)	Single nucleotide variant (missense variant)	Thrombocytopenia 2 +3 more	GConflicting classifications of pathogenicity
Select item 299733	NM_014915.3(ANKRD26):c.3704A>T (p.Gln1235Leu)	ANKRD26 (Q1235L +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 930454	NM_014915.3(ANKRD26):c.3686C>T (p.Ala1229Val)	ANKRD26 (A1229V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 878252	NM_014915.3(ANKRD26):c.3655G>A (p.Val1219Ile)	ANKRD26 (V1218I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 299736	NM_014915.3(ANKRD26):c.3286C>T (p.Arg1096Trp)	ANKRD26 (R1096W +1 more)	Single nucleotide variant (missense variant)	Thrombocytopenia 2 +3 more	GConflicting classifications of pathogenicity
Select item 777851	NM_014915.3(ANKRD26):c.3007G>A (p.Glu1003Lys)	ANKRD26 (E1002K +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 880061	NM_014915.3(ANKRD26):c.2697+9A>G	ANKRD26	Single nucleotide variant (intron variant)	Thrombocytopenia 2 +2 more	GBenign/Likely benign
Select item 260463	NM_014915.3(ANKRD26):c.2679A>G (p.Gln893=)	ANKRD26	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 880062	NM_014915.3(ANKRD26):c.2584C>G (p.Gln862Glu)	ANKRD26 (Q861E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 299739	NM_014915.3(ANKRD26):c.2559+10T>A	ANKRD26	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 434202	NM_014915.3(ANKRD26):c.2332G>C (p.Glu778Gln)	ANKRD26 (E778Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 717238	NM_014915.3(ANKRD26):c.2170A>C (p.Ser724Arg)	ANKRD26 (S723R +1 more)	Single nucleotide variant (missense variant)	Thrombocytopenia 2 +3 more	GConflicting classifications of pathogenicity
Select item 877274	NM_014915.3(ANKRD26):c.2005A>G (p.Asn669Asp)	ANKRD26 (N668D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 723707	NM_014915.3(ANKRD26):c.1806G>A (p.Glu602=)	ANKRD26	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 878314	NM_014915.3(ANKRD26):c.1747C>G (p.Gln583Glu)	ANKRD26 (Q583E)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 299745	NM_014915.3(ANKRD26):c.1635+9T>C	ANKRD26	Single nucleotide variant (intron variant)	Thrombocytopenia 2 +2 more	GBenign/Likely benign
Select item 260460	NM_014915.3(ANKRD26):c.1590AGA[2] (p.Glu533del)	ANKRD26 (E533del)	Microsatellite (inframe_deletion)	Thrombocytopenia +3 more	GBenign/Likely benign
Select item 210182	NM_014915.3(ANKRD26):c.1571A>G (p.His524Arg)	ANKRD26 (H524R)	Single nucleotide variant (missense variant)	Thrombocytopenia 2 +2 more	GBenign
Select item 714308	NM_014915.3(ANKRD26):c.1451T>C (p.Val484Ala)	ANKRD26 (V484A)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 878896	NM_014915.3(ANKRD26):c.1327G>A (p.Gly443Arg)	ANKRD26 (G443R)	Single nucleotide variant (missense variant)	Thrombocytopenia 2 +2 more	GUncertain significance
Select item 299752	NM_014915.3(ANKRD26):c.1153A>G (p.Thr385Ala)	ANKRD26 (T385A)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 712487	NM_014915.3(ANKRD26):c.1133A>G (p.Glu378Gly)	ANKRD26 (E378G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 880123	NM_014915.3(ANKRD26):c.756G>A (p.Pro252=)	ANKRD26	Single nucleotide variant (synonymous variant)	Thrombocytopenia 2 +2 more	GBenign/Likely benign
Select item 877327	NM_014915.3(ANKRD26):c.679C>T (p.Pro227Ser)	ANKRD26 (P227S)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 434204	NM_014915.3(ANKRD26):c.542C>T (p.Thr181Ile)	ANKRD26 (T181I)	Single nucleotide variant (missense variant)	Thrombocytopenia 2 +3 more	GBenign/Likely benign
Select item 299759	NM_014915.3(ANKRD26):c.531+10A>T	ANKRD26	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 877329	NM_014915.3(ANKRD26):c.531+9C>G	ANKRD26	Single nucleotide variant (intron variant)	Thrombocytopenia 2 +2 more	GBenign
Select item 1033718	NM_014915.3(ANKRD26):c.371A>T (p.Gln124Leu)	ANKRD26 (Q124L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1338157	NM_014915.3(ANKRD26):c.320A>G (p.Asn107Ser)	ANKRD26 (N107S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 210181	NM_014915.3(ANKRD26):c.153C>G (p.His51Gln)	ANKRD26, LOC130003554 (H51Q)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 878357	NM_014915.3(ANKRD26):c.141C>A (p.Leu47=)	ANKRD26, LOC130003554	Single nucleotide variant (synonymous variant)	Thrombocytopenia 2 +2 more	GBenign/Likely benign
Select item 299764	NM_014915.3(ANKRD26):c.101C>T (p.Ala34Val)	ANKRD26, LOC130003554 (A34V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 434205	NM_014915.3(ANKRD26):c.92G>C (p.Gly31Ala)	LOC130003554, ANKRD26 (G31A)	Single nucleotide variant (missense variant)	Thrombocytopenia 2 +4 more	GConflicting classifications of pathogenicity
Select item 712488	NM_014915.3(ANKRD26):c.40G>A (p.Gly14Ser)	ANKRD26, LOC130003554 (G14S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 878948	NM_014915.3(ANKRD26):c.3G>A (p.Met1Ile)	ANKRD26, LOC130003554 (M1I)	Single nucleotide variant (missense variant +1 more)	Thrombocytopenia 2 +2 more	GConflicting classifications of pathogenicity
Select item 880166	NM_014915.3(ANKRD26):c.-77C>G	ANKRD26	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign
Select item 434210	NM_014915.3(ANKRD26):c.-119C>G	ANKRD26	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 626941	NM_014915.3(ANKRD26):c.-126T>C	ANKRD26	Single nucleotide variant (5 prime UTR variant)	Thrombocytopenia 2 +3 more	GConflicting classifications of pathogenicity
Select item 434211	NM_014915.2(ANKRD26):c.-184G>T	ANKRD26	Single nucleotide variant	Thrombocytopenia 2 +2 more	GBenign/Likely benign

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Items: 44