"GeneDx"[submitter] AND "ANK2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 678731	NM_001127493.3(ANK2):c.-39-203T>C	ANK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195276	NM_001127493.3(ANK2):c.21+24A>G	ANK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200065	NM_001127493.3(ANK2):c.21+52G>A	ANK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675525	NM_001127493.3(ANK2):c.21+151A>T	ANK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672177	NM_001127493.3(ANK2):c.21+199T>C	ANK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199774	NM_001127493.3(ANK2):c.22-125076G>C	ANK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253934	NM_001127493.3(ANK2):c.22-124813C>T	ANK2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1292223	NM_001127493.3(ANK2):c.22-124794A>C	ANK2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 136380	NM_001148.6(ANK2):c.-39G>T	ANK2	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +1 more	GConflicting classifications of pathogenicity
Select item 377468	NM_001148.6(ANK2):c.-18C>G	ANK2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 432547	NM_001148.6(ANK2):c.13G>T (p.Asp5Tyr)	ANK2 (D5Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1318686	NM_001148.6(ANK2):c.35G>T (p.Ser12Ile)	ANK2 (S12I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 347301	NM_001148.6(ANK2):c.56G>A (p.Ser19Asn)	ANK2 (S19N)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 190590	NM_001148.6(ANK2):c.80A>C (p.Lys27Thr)	ANK2 (K27T)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1131074	NM_001148.6(ANK2):c.84+7C>T	ANK2	Single nucleotide variant (intron variant)	Long QT syndrome +2 more	GBenign/Likely benign
Select item 219922	NM_001148.6(ANK2):c.84+8G>A	ANK2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 516423	NM_001148.6(ANK2):c.85-5C>T	ANK2 (R23C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3252705	NM_001148.6(ANK2):c.91A>G (p.Ser31Gly)	ANK2 (S10G +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1186234	NM_001148.6(ANK2):c.109C>T (p.Arg37Cys)	ANK2 (R16C +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1677317	NM_001148.6(ANK2):c.113C>T (p.Ala38Val)	ANK2 (A17V +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 426438	NM_001148.6(ANK2):c.121G>A (p.Ala41Thr)	ANK2 (A20T +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 264251	NM_001148.6(ANK2):c.130C>G (p.Leu44Val)	ANK2 (L23V +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GBenign/Likely benign
Select item 511351	NM_001148.6(ANK2):c.132G>A (p.Leu44=)	ANK2	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 more	GLikely benign
Select item 1315877	NM_001148.6(ANK2):c.155del (p.Lys52fs)	ANK2 (K31fs +5 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 190537	NM_001148.6(ANK2):c.176C>T (p.Thr59Ile)	ANK2 (T38I +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 383151	NM_001148.6(ANK2):c.186+18A>G	ANK2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 669890	NM_001148.6(ANK2):c.186+343A>G	ANK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248503	NM_001148.6(ANK2):c.187-244A>G	ANK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222583	NM_001148.6(ANK2):c.187-52C>T	ANK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235290	NM_001148.6(ANK2):c.187-46dup	ANK2	Duplication (intron variant)	not provided	GBenign
Select item 392154	NM_001148.6(ANK2):c.187-6T>C	ANK2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 347302	NM_001148.6(ANK2):c.198C>T (p.Asn66=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1784731	NM_001148.6(ANK2):c.202C>G (p.Leu68Val)	ANK2 (L62V +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
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 190591	NM_001148.6(ANK2):c.257G>T (p.Arg86Ile)	ANK2 (R65I +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 136381	NM_001148.6(ANK2):c.261G>A (p.Gly87=)	ANK2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 3369060	NM_001148.6(ANK2):c.263C>A (p.Ser88Tyr)	ANK2 (S103Y +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1241655	NM_001148.6(ANK2):c.285+19G>A	ANK2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1257759	NM_001148.6(ANK2):c.285+101G>A	ANK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217567	NM_001148.6(ANK2):c.285+195G>A	ANK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679054	NM_001148.6(ANK2):c.286-244T>C	ANK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228983	NM_001148.6(ANK2):c.286-233C>T	ANK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258493	NM_001148.6(ANK2):c.286-76dup	ANK2	Duplication (intron variant)	not provided	GBenign
Select item 514867	NM_001148.6(ANK2):c.286-18T>C	ANK2	Single nucleotide variant (intron variant)	Long QT syndrome +1 more	GLikely benign
Select item 1214058	NM_001148.6(ANK2):c.307A>G (p.Ile103Val)	ANK2 (I103V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 423286	NM_001148.6(ANK2):c.337G>A (p.Val113Ile)	ANK2 (V113I +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695789	NM_001148.6(ANK2):c.338T>A (p.Val113Asp)	ANK2 (V107D +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 507909	NM_001148.6(ANK2):c.384+7C>T	ANK2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 35688	NM_001148.6(ANK2):c.384+19C>T	ANK2	Single nucleotide variant (intron variant)	Long QT syndrome +3 more	GBenign
Select item 1208245	NM_001148.6(ANK2):c.384+44G>T	ANK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673563	NM_001148.6(ANK2):c.384+119T>C	ANK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683232	NM_001148.6(ANK2):c.385-255A>T	ANK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198437	NM_001148.6(ANK2):c.385-150G>A	ANK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669945	NM_001148.6(ANK2):c.385-76A>G	ANK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1315975	NM_001148.6(ANK2):c.393del (p.Phe131fs)	ANK2 (F110fs +5 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1292224	NM_001148.6(ANK2):c.441A>G (p.Lys147=)	ANK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 508723	NM_001148.6(ANK2):c.483+8T>C	ANK2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 676079	NM_001148.6(ANK2):c.483+128C>T	ANK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178672	NM_001148.6(ANK2):c.483+158G>A	ANK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218971	NM_001148.6(ANK2):c.483+230T>C	ANK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1710684	NM_001148.6(ANK2):c.530A>T (p.Gln177Leu)	ANK2 (Q156L +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1145041	NM_001148.6(ANK2):c.547T>C (p.Leu183=)	ANK2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 430239	NM_001148.6(ANK2):c.590A>G (p.His197Arg)	ANK2 (H176R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 136383	NM_001148.6(ANK2):c.615C>T (p.Thr205=)	ANK2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 3369672	NM_001148.6(ANK2):c.622G>T (p.Ala208Ser)	ANK2 (A187S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 190519	NM_001148.6(ANK2):c.669+3A>G	ANK2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1291560	NM_001148.6(ANK2):c.669+70del	ANK2	Deletion (intron variant)	not provided	GBenign
Select item 377469	NM_001148.6(ANK2):c.684G>A (p.Arg228=)	ANK2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 1465975	NM_001148.6(ANK2):c.693+6G>A	ANK2	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 515911	NM_001148.6(ANK2):c.693+20C>A	ANK2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1197231	NM_001148.6(ANK2):c.693+144G>A	ANK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683235	NM_001148.6(ANK2):c.693+274A>C	ANK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187677	NM_001148.6(ANK2):c.694-216A>G	ANK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672178	NM_001148.6(ANK2):c.694-160T>C	ANK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259494	NM_001148.6(ANK2):c.694-17T>C	ANK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 389982	NM_001148.6(ANK2):c.694-1G>A	ANK2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2576912	NM_001148.6(ANK2):c.741C>A (p.Asn247Lys)	ANK2 (N218K +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 377470	NM_001148.6(ANK2):c.741C>T (p.Asn247=)	ANK2	Single nucleotide variant (synonymous variant)	Long QT syndrome +3 more	GConflicting classifications of pathogenicity
Select item 377471	NM_001148.6(ANK2):c.792+15A>G	ANK2	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1191370	NM_001148.6(ANK2):c.793-124G>T	ANK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1210673	NM_001148.6(ANK2):c.793-54G>A	ANK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682193	NM_001148.6(ANK2):c.793-4G>A	ANK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1695772	NM_001148.6(ANK2):c.799A>C (p.Ile267Leu)	ANK2 (I238L +8 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 518493	NM_001148.6(ANK2):c.805C>T (p.Pro269Ser)	ANK2 (P248S +8 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia, ankyrin-B-related +3 more	GUncertain significance
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 190538	NM_001148.6(ANK2):c.827G>A (p.Arg276Lys)	ANK2 (R255K +8 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia, ankyrin-B-related +3 more	GUncertain significance
Select item 389074	NM_001148.6(ANK2):c.834T>C (p.Asn278=)	ANK2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 518820	NM_001148.6(ANK2):c.867C>T (p.Gly289=)	ANK2	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 more	GLikely benign
Select item 1203187	NM_001148.6(ANK2):c.871C>T (p.Gln291Ter)	ANK2 (Q262* +8 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
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 3371060	NM_001148.6(ANK2):c.891+5G>A	ANK2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1189211	NM_001148.6(ANK2):c.891+29A>G	ANK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675821	NM_001148.6(ANK2):c.891+34T>G	ANK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187388	NM_001148.6(ANK2):c.891+80C>T	ANK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1180956	NM_001148.6(ANK2):c.891+229T>C	ANK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 190539	NM_001148.6(ANK2):c.961C>T (p.Arg321Trp)	ANK2 (R300W +8 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
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 1318699	NM_001148.6(ANK2):c.968C>T (p.Ala323Val)	ANK2 (A294V +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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