"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 413949	NM_001148.6(ANK2):c.231G>A (p.Val77=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 519244	NM_001148.6(ANK2):c.270G>T (p.Val90=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia, ankyrin-B-related +3 more	GBenign/Likely benign
Select item 519081	NM_001148.6(ANK2):c.813T>C (p.His271=)	ANK2	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 527005	NM_001148.6(ANK2):c.877G>A (p.Asp293Asn)	ANK2 (D293N +8 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia, ankyrin-B-related +3 more	GConflicting classifications of pathogenicity
Select item 190540	NM_001148.6(ANK2):c.962G>A (p.Arg321Gln)	ANK2 (R300Q +8 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 190592	NM_001148.6(ANK2):c.1136G>T (p.Arg379Leu)	ANK2 (R358L +8 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia, ankyrin-B-related +4 more	GConflicting classifications of pathogenicity
Select item 191533	NM_001148.6(ANK2):c.1177G>A (p.Ala393Thr)	ANK2 (A372T +8 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 811976	NM_001148.6(ANK2):c.1326C>T (p.Gly442=)	ANK2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 439404	NM_001148.6(ANK2):c.1511C>T (p.Ala504Val)	ANK2 (A483V +11 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 347309	NM_001148.6(ANK2):c.1881+8C>G	ANK2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 2428594	NM_001148.6(ANK2):c.1898T>C (p.Leu633Ser)	ANK2 (L505S +15 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 522253	NM_001148.6(ANK2):c.2178+18C>T	ANK2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 377473	NM_001148.6(ANK2):c.2249A>G (p.Gln750Arg)	ANK2 (Q729R +15 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GBenign/Likely benign
Select item 347314	NM_001148.6(ANK2):c.2278-11G>A	ANK2	Single nucleotide variant (intron variant)	Cardiac arrhythmia, ankyrin-B-related +3 more	GBenign/Likely benign
Select item 136386	NM_001148.6(ANK2):c.2377-8C>T	ANK2	Single nucleotide variant (intron variant)	Cardiac arrhythmia, ankyrin-B-related +3 more	GBenign/Likely benign
Select item 1330936	NM_001148.6(ANK2):c.2900+5125C>G	ANK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 994218	NM_001148.6(ANK2):c.2900+5143G>A	ANK2 (A1004T +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1330923	NM_001148.6(ANK2):c.2900+5165A>G	ANK2 (D1003G +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 812047	NM_001148.6(ANK2):c.3045A>T (p.Ala1015=)	ANK2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 190562	NM_001148.6(ANK2):c.3074G>C (p.Gly1025Ala)	ANK2 (G1016A +30 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 238577	NM_001148.6(ANK2):c.3366C>T (p.Asn1122=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 618528	NM_001148.6(ANK2):c.3373G>C (p.Asp1125His)	ANK2 (D1116H +35 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 347318	NM_001148.6(ANK2):c.3379+12T>G	ANK2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 994242	NM_001148.6(ANK2):c.3471C>T (p.Ile1157=)	ANK2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 35686	NM_001148.6(ANK2):c.3510A>G (p.Val1170=)	ANK2	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign
Select item 238578	NM_001148.6(ANK2):c.3543C>T (p.Ala1181=)	ANK2	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +3 more	GBenign/Likely benign
Select item 190602	NM_001148.6(ANK2):c.3623A>C (p.Lys1208Thr)	ANK2 (K1199T +38 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 35687	NM_001148.6(ANK2):c.3796+18G>A	ANK2	Single nucleotide variant (intron variant)	Cardiac arrhythmia +2 more	GConflicting classifications of pathogenicity
Select item 238579	NM_001148.6(ANK2):c.3893+10T>C	ANK2	Single nucleotide variant (intron variant)	Cardiac arrhythmia, ankyrin-B-related +2 more	GBenign
Select item 136392	NM_001148.6(ANK2):c.3963T>C (p.Ile1321=)	ANK2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 238580	NM_001148.6(ANK2):c.4152T>C (p.Asp1384=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 377478	NM_001148.6(ANK2):c.4372-7C>T	ANK2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 18056	NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly)	ANK2 (E1425G +37 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 191535	NM_001148.6(ANK2):c.4745G>A (p.Arg1582Gln)	ANK2 (R1582Q +4 more)	Single nucleotide variant (intron variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 457042	NM_001148.6(ANK2):c.5457G>A (p.Ala1819=)	ANK2, LOC126807136	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GLikely benign
Select item 180270	NM_001148.6(ANK2):c.6206G>A (p.Arg2069His)	ANK2, LOC126807136 (R2069H +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +3 more	GConflicting classifications of pathogenicity
Select item 238584	NM_001148.6(ANK2):c.6633C>T (p.Ala2211=)	ANK2	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 191558	NM_001148.6(ANK2):c.6634G>A (p.Gly2212Ser)	ANK2 (G2212S +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +4 more	GBenign
Select item 238585	NM_001148.6(ANK2):c.6648C>G (p.Gly2216=)	ANK2	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +3 more	GBenign/Likely benign
Select item 191559	NM_001148.6(ANK2):c.7007C>T (p.Ala2336Val)	ANK2, LOC126807137 (A2336V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign
Select item 413956	NM_001148.6(ANK2):c.7059A>G (p.Gln2353=)	ANK2, LOC126807137	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +3 more	GBenign/Likely benign
Select item 35690	NM_001148.6(ANK2):c.7106T>C (p.Val2369Ala)	ANK2, LOC126807137 (V2369A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GBenign/Likely benign
Select item 180272	NM_001148.6(ANK2):c.7397G>A (p.Arg2466His)	ANK2, LOC126807137 (R2466H +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +4 more	GLikely benign
Select item 851921	NM_001148.6(ANK2):c.7412G>A (p.Ser2471Asn)	ANK2, LOC126807137 (S2471N +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 238589	NM_001148.6(ANK2):c.7488A>G (p.Thr2496=)	ANK2, LOC126807137	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +4 more	GBenign/Likely benign
Select item 215488	NM_001148.6(ANK2):c.7902G>A (p.Val2634=)	ANK2, LOC126807137	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome +3 more	GBenign/Likely benign
Select item 191560	NM_001148.6(ANK2):c.8503C>T (p.Pro2835Ser)	ANK2 (P2835S +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +4 more	GBenign
Select item 969527	NM_001148.6(ANK2):c.8979A>G (p.Ile2993Met)	ANK2 (I2993M +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 2428735	NM_001148.6(ANK2):c.9039A>C (p.Ser3013=)	ANK2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 191541	NM_001148.6(ANK2):c.9046G>A (p.Glu3016Lys)	ANK2 (E3016K +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 191561	NM_001148.6(ANK2):c.9061G>A (p.Ala3021Thr)	ANK2 (A3021T +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +4 more	GBenign/Likely benign
Select item 379629	NM_001148.6(ANK2):c.9286A>G (p.Ser3096Gly)	ANK2 (S3096G +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +3 more	GConflicting classifications of pathogenicity
Select item 191562	NM_001148.6(ANK2):c.9454A>G (p.Thr3152Ala)	ANK2 (T3152A +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +5 more	GBenign/Likely benign
Select item 993771	NM_001148.6(ANK2):c.9587C>T (p.Ser3196Leu)	ANK2 (S1996L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 190528	NM_001148.6(ANK2):c.9854T>C (p.Ile3285Thr)	ANK2 (I3285T +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +6 more	GBenign/Likely benign
Select item 191563	NM_001148.6(ANK2):c.9900C>A (p.Ser3300Arg)	ANK2 (S3300R +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +4 more	GBenign/Likely benign
Select item 220038	NM_001148.6(ANK2):c.9996T>C (p.Ser3332=)	ANK2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome +3 more	GBenign
Select item 220622	NM_001148.6(ANK2):c.10395G>A (p.Glu3465=)	ANK2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome +3 more	GBenign/Likely benign
Select item 347344	NM_001148.6(ANK2):c.10531C>T (p.Leu3511=)	ANK2	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 942888	NM_001148.6(ANK2):c.10809T>A (p.Ile3603=)	ANK2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 67597	NM_001148.6(ANK2):c.10861C>G (p.Leu3621Val)	ANK2 (L1527V +43 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 618527	NM_001148.6(ANK2):c.10882G>T (p.Ala3628Ser)	ANK2 (A1534S +43 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1215178	NM_001148.6(ANK2):c.11032+20TG[17]	ANK2	Microsatellite (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1250504	NM_001148.6(ANK2):c.11032+20TG[13]	ANK2	Microsatellite (intron variant)	Long QT syndrome +1 more	GBenign
Select item 993329	NM_001148.6(ANK2):c.11182G>A (p.Val3728Ile)	ANK2 (V1482I +43 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 18058	NM_001148.6(ANK2):c.11218C>A (p.Leu3740Ile)	ANK2 (L1622I +43 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 18057	NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn)	ANK2 (T1626N +43 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 234767	NM_001148.6(ANK2):c.11525G>A (p.Arg3842Gln)	ANK2 (R1748Q +43 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia, ankyrin-B-related +3 more	GUncertain significance
Select item 1330639	NM_001148.6(ANK2):c.11774A>C (p.Gln3925Pro)	ANK2 (Q1016P +50 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 136398	NM_001148.6(ANK2):c.11790C>T (p.Ile3930=)	ANK2	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +4 more	GBenign
Select item 136399	NM_001148.6(ANK2):c.11860-18T>G	ANK2	Single nucleotide variant (intron variant)	Long QT syndrome +2 more	GBenign

ClinVar

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Items: 71