ClinVar for MedGen (Select 418825) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064511	NM_194454.3(KRIT1):c.1747_1756del (p.Ser583fs)	KRIT1 (S345fs +2 more)	Deletion (frameshift variant)	Cerebral cavernous malformation	GPathogenic
Select item 3016921	NM_194454.3(KRIT1):c.1127A>T (p.Asn376Ile)	KRIT1 (N328I +2 more)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation	GUncertain significance
Select item 3015837	NM_194454.3(KRIT1):c.542CTC[1] (p.Pro182del)	KRIT1 (P182del)	Microsatellite (inframe_deletion +1 more)	Cerebral cavernous malformation	GUncertain significance
Select item 2989870	NM_194454.3(KRIT1):c.1480T>C (p.Leu494=)	KRIT1	Single nucleotide variant (synonymous variant)	Cerebral cavernous malformation	GLikely benign
Select item 2917967	NM_194454.3(KRIT1):c.1680A>G (p.Gln560=)	KRIT1	Single nucleotide variant (synonymous variant)	Cerebral cavernous malformation	GLikely benign
Select item 2912933	NM_194454.3(KRIT1):c.1631A>G (p.Tyr544Cys)	KRIT1 (Y306C +2 more)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation	GUncertain significance
Select item 2904705	NM_194454.3(KRIT1):c.1731-14A>C	KRIT1	Single nucleotide variant (intron variant)	Cerebral cavernous malformation	GLikely benign
Select item 2889611	NM_194454.3(KRIT1):c.1342A>G (p.Met448Val)	KRIT1 (M448V +2 more)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation	GUncertain significance
Select item 2874123	NM_194454.3(KRIT1):c.103-7A>T	KRIT1	Single nucleotide variant (intron variant)	Cerebral cavernous malformation	GLikely benign
Select item 2865469	NM_194454.3(KRIT1):c.2038dup (p.Ser680fs)	KRIT1 (S632fs +2 more)	Duplication (frameshift variant)	Cerebral cavernous malformation	GPathogenic
Select item 2863159	NM_194454.3(KRIT1):c.1214_1215dup (p.Glu406fs)	KRIT1 (E168fs +2 more)	Duplication (frameshift variant)	Cerebral cavernous malformation	GPathogenic
Select item 2857598	NM_194454.3(KRIT1):c.2084_2142+81del	KRIT1	Deletion (splice donor variant)	Cerebral cavernous malformation	GPathogenic
Select item 2855319	NM_194454.3(KRIT1):c.1549G>T (p.Glu517Ter)	KRIT1 (E469* +2 more)	Single nucleotide variant (nonsense)	Cerebral cavernous malformation	GPathogenic
Select item 2852978	NM_194454.3(KRIT1):c.485+13G>T	KRIT1	Single nucleotide variant (intron variant)	Cerebral cavernous malformation	GLikely benign
Select item 2852071	NM_194454.3(KRIT1):c.405A>C (p.Leu135Phe)	KRIT1 (L135F)	Single nucleotide variant (missense variant +1 more)	Cerebral cavernous malformation	GUncertain significance
Select item 2842717	NM_194454.3(KRIT1):c.938C>T (p.Ser313Leu)	KRIT1 (S313L +1 more)	Single nucleotide variant (missense variant +1 more)	Cerebral cavernous malformation	GUncertain significance
Select item 2842172	NM_194454.3(KRIT1):c.729+2T>G	KRIT1	Single nucleotide variant (splice donor variant +1 more)	Cerebral cavernous malformation	GPathogenic
Select item 2841853	NM_194454.3(KRIT1):c.1731-3C>G	KRIT1	Single nucleotide variant (intron variant)	Cerebral cavernous malformation	GUncertain significance
Select item 2839975	NM_194454.3(KRIT1):c.1117A>G (p.Ile373Val)	KRIT1 (I135V +2 more)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation	GUncertain significance
Select item 2838877	NM_194454.3(KRIT1):c.1818+3A>C	KRIT1	Single nucleotide variant (intron variant)	Cerebral cavernous malformation	GUncertain significance
Select item 2835581	NM_194454.3(KRIT1):c.730-12_730-11insGAACCTGGGAGGCGGAGGTTGCAGTGTGCTGAGATCGCACACTGCGA	KRIT1	Insertion (intron variant)	Cerebral cavernous malformation	GUncertain significance
Select item 2831759	NM_194454.3(KRIT1):c.126T>C (p.Ile42=)	KRIT1	Single nucleotide variant (synonymous variant +1 more)	Cerebral cavernous malformation	GLikely benign
Select item 2830570	NM_194454.3(KRIT1):c.1423A>T (p.Lys475Ter)	KRIT1 (K427* +2 more)	Single nucleotide variant (nonsense)	Cerebral cavernous malformation	GPathogenic
Select item 2828955	NM_194454.3(KRIT1):c.1096G>A (p.Gly366Arg)	KRIT1 (G318R +2 more)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation	GUncertain significance
Select item 2823302	NM_194454.3(KRIT1):c.1732G>T (p.Glu578Ter)	KRIT1 (E578* +2 more)	Single nucleotide variant (nonsense)	Cerebral cavernous malformation	GPathogenic
Select item 2822107	NM_194454.3(KRIT1):c.636A>G (p.Ala212=)	KRIT1	Single nucleotide variant (synonymous variant +1 more)	Cerebral cavernous malformation	GLikely benign
Select item 2819479	NM_194454.3(KRIT1):c.485+13G>A	KRIT1	Single nucleotide variant (intron variant)	Cerebral cavernous malformation	GLikely benign
Select item 2793236	NM_194454.3(KRIT1):c.1150A>G (p.Ile384Val)	KRIT1 (I336V +2 more)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation	GUncertain significance
Select item 2781286	NM_194454.3(KRIT1):c.228C>T (p.Thr76=)	KRIT1	Single nucleotide variant (synonymous variant +1 more)	Cerebral cavernous malformation	GLikely benign
Select item 2779905	NM_194454.3(KRIT1):c.506C>G (p.Ala169Gly)	KRIT1 (A169G)	Single nucleotide variant (missense variant +1 more)	Cerebral cavernous malformation	GUncertain significance
Select item 2773006	NM_194454.3(KRIT1):c.1145G>A (p.Arg382Lys)	KRIT1 (R144K +2 more)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation	GUncertain significance
Select item 2761887	NM_194454.3(KRIT1):c.2030T>A (p.Leu677Ter)	KRIT1 (L629* +2 more)	Single nucleotide variant (nonsense)	Cerebral cavernous malformation	GPathogenic
Select item 2757536	NM_194454.3(KRIT1):c.567T>C (p.Asn189=)	KRIT1	Single nucleotide variant (synonymous variant +1 more)	Cerebral cavernous malformation	GLikely benign
Select item 2754420	NM_194454.3(KRIT1):c.120del (p.Ile42fs)	KRIT1 (I42fs)	Deletion (frameshift variant +1 more)	Cerebral cavernous malformation	GPathogenic
Select item 2743285	NM_194454.3(KRIT1):c.1261A>T (p.Lys421Ter)	KRIT1 (K373* +2 more)	Single nucleotide variant (nonsense)	Cerebral cavernous malformation	GPathogenic
Select item 2739261	NM_194454.3(KRIT1):c.728G>A (p.Arg243Gln)	KRIT1 (R243Q)	Single nucleotide variant (missense variant +1 more)	Cerebral cavernous malformation	GUncertain significance
Select item 2735052	NM_194454.3(KRIT1):c.601C>T (p.Gln201Ter)	KRIT1 (Q201*)	Single nucleotide variant (nonsense +1 more)	Cerebral cavernous malformation	GPathogenic
Select item 2735049	NM_194454.3(KRIT1):c.877del (p.His293fs)	KRIT1 (H293fs +1 more)	Deletion (frameshift variant +1 more)	Cerebral cavernous malformation	GPathogenic
Select item 2735047	NM_194454.3(KRIT1):c.1254del (p.Tyr419fs)	KRIT1 (Y419fs +2 more)	Deletion (frameshift variant)	Cerebral cavernous malformation	GPathogenic
Select item 2735046	NM_194454.3(KRIT1):c.1498C>T (p.Gln500Ter)	KRIT1 (Q452* +2 more)	Single nucleotide variant (nonsense)	Cerebral cavernous malformation	GPathogenic
Select item 2735045	NM_194454.3(KRIT1):c.1877T>A (p.Leu626Ter)	KRIT1 (L578* +2 more)	Single nucleotide variant (nonsense)	Cerebral cavernous malformation	GPathogenic
Select item 2735044	NM_194454.3(KRIT1):c.1905T>G (p.Tyr635Ter)	KRIT1 (Y397* +2 more)	Single nucleotide variant (nonsense)	Cerebral cavernous malformation	GPathogenic
Select item 2735043	NM_194454.3(KRIT1):c.1935del (p.Phe645fs)	KRIT1 (F407fs +2 more)	Deletion (frameshift variant)	Cerebral cavernous malformation	GPathogenic
Select item 2735042	NM_194454.3(KRIT1):c.2025G>C (p.Lys675Asn)	KRIT1 (K437N +2 more)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation	GUncertain significance
Select item 2726633	NM_194454.3(KRIT1):c.1150del (p.His383_Ile384insTer)	KRIT1	Deletion (nonsense)	Cerebral cavernous malformation	GPathogenic
Select item 2717742	NM_194454.3(KRIT1):c.972dup (p.Ile325fs)	KRIT1 (I325fs +1 more)	Duplication (frameshift variant +1 more)	Cerebral cavernous malformation	GPathogenic
Select item 2712271	NM_194454.3(KRIT1):c.594A>G (p.Glu198=)	KRIT1 (N4S)	Single nucleotide variant (synonymous variant +1 more)	Cerebral cavernous malformation	GLikely benign
Select item 2709039	NM_194454.3(KRIT1):c.935_954del (p.Arg311_Phe312insTer)	KRIT1	Deletion (nonsense +1 more)	Cerebral cavernous malformation	GPathogenic
Select item 2708588	NM_194454.3(KRIT1):c.847G>T (p.Glu283Ter)	KRIT1 (E45* +1 more)	Single nucleotide variant (nonsense +1 more)	Cerebral cavernous malformation	GPathogenic
Select item 2706650	NM_194454.3(KRIT1):c.2058del (p.Phe686fs)	KRIT1 (F448fs +2 more)	Deletion (frameshift variant)	Cerebral cavernous malformation	GPathogenic
Select item 2704999	NM_194454.3(KRIT1):c.2030dup (p.Leu677fs)	KRIT1 (L629fs +2 more)	Duplication (frameshift variant)	Cerebral cavernous malformation	GPathogenic
Select item 2703358	NM_194454.3(KRIT1):c.103-6T>G	KRIT1	Single nucleotide variant (intron variant)	Cerebral cavernous malformation	GUncertain significance
Select item 2703293	NM_194454.3(KRIT1):c.486-1G>T	KRIT1	Single nucleotide variant (splice acceptor variant)	Cerebral cavernous malformation	GLikely pathogenic
Select item 2700537	NM_194454.3(KRIT1):c.891T>A (p.Cys297Ter)	KRIT1 (C297* +1 more)	Single nucleotide variant (nonsense +1 more)	Cerebral cavernous malformation	GPathogenic
Select item 2700209	NM_194454.3(KRIT1):c.1147-20dup	KRIT1	Duplication (intron variant)	Cerebral cavernous malformation	GBenign
Select item 2695992	NM_194454.3(KRIT1):c.1717C>G (p.Gln573Glu)	KRIT1 (Q525E +2 more)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation	GUncertain significance
Select item 2693062	NM_194454.3(KRIT1):c.1596_1606del (p.Phe532fs)	KRIT1 (F294fs +2 more)	Deletion (frameshift variant)	Cerebral cavernous malformation	GPathogenic
Select item 2664280	NM_194454.3(KRIT1):c.1717_1720del (p.Gln573fs)	KRIT1 (Q335fs +2 more)	Microsatellite (frameshift variant)	Cerebral cavernous malformation	GPathogenic
Select item 2626895	NM_194454.3(KRIT1):c.1564-2A>T	KRIT1	Single nucleotide variant (splice acceptor variant)	Cerebral cavernous malformation	GLikely pathogenic
Select item 2582664	NM_194454.3(KRIT1):c.1942G>A (p.Ala648Thr)	KRIT1 (A410T +2 more)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation	GUncertain significance
Select item 2533693	NM_194454.3(KRIT1):c.1688A>G (p.Tyr563Cys)	KRIT1 (Y563C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2500051	NM_194454.3(KRIT1):c.646A>T (p.Lys216Ter)	KRIT1 (K216*)	Single nucleotide variant (nonsense +1 more)	Cerebral cavernous malformation	GPathogenic
Select item 2433260	NM_194454.3(KRIT1):c.1976A>G (p.Tyr659Cys)	KRIT1 (Y421C +2 more)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation	GUncertain significance
Select item 2427628	NC_000007.13:g.(?_91830050)_(91867093_?)del	KRIT1	Deletion	Cerebral cavernous malformation	GPathogenic
Select item 2427627	NC_000007.13:g.(?_91830050)_(91844111_?)del	KRIT1	Deletion	Cerebral cavernous malformation	GPathogenic
Select item 2427626	NC_000007.13:g.(?_91851196)_(91852312_?)del	KRIT1	Deletion	Cerebral cavernous malformation	GLikely pathogenic
Select item 2417205	NM_194454.3(KRIT1):c.730-4del	KRIT1	Deletion (intron variant)	Cerebral cavernous malformation	GLikely benign
Select item 2182613	NM_194454.3(KRIT1):c.536G>A (p.Arg179Gln)	KRIT1 (R179Q)	Single nucleotide variant (missense variant +1 more)	Cerebral cavernous malformation	GUncertain significance
Select item 2175459	NM_194454.3(KRIT1):c.990-5T>C	KRIT1	Single nucleotide variant (intron variant)	Cerebral cavernous malformation	GLikely benign
Select item 2174178	NM_194454.3(KRIT1):c.213C>T (p.Tyr71=)	KRIT1	Single nucleotide variant (synonymous variant +1 more)	Cerebral cavernous malformation	GLikely benign
Select item 2172624	NM_194454.3(KRIT1):c.1302T>A (p.Val434=)	KRIT1	Single nucleotide variant (synonymous variant)	Cerebral cavernous malformation	GUncertain significance
Select item 2169757	NM_194454.3(KRIT1):c.2061G>A (p.Met687Ile)	KRIT1 (M687I +2 more)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation	GUncertain significance
Select item 2139548	NM_194454.3(KRIT1):c.673G>A (p.Ala225Thr)	KRIT1 (A225T)	Single nucleotide variant (missense variant +1 more)	Cerebral cavernous malformation	GUncertain significance
Select item 2138865	NM_194454.3(KRIT1):c.168G>A (p.Thr56=)	KRIT1	Single nucleotide variant (synonymous variant +1 more)	Cerebral cavernous malformation	GLikely benign
Select item 2136553	NM_194454.3(KRIT1):c.406C>T (p.Gln136Ter)	KRIT1 (Q136*)	Single nucleotide variant (nonsense +1 more)	Cerebral cavernous malformation	GPathogenic
Select item 2136552	NM_194454.3(KRIT1):c.1088del (p.Ala363fs)	KRIT1 (A125fs +2 more)	Deletion (frameshift variant)	Cerebral cavernous malformation	GPathogenic
Select item 2126483	NM_194454.3(KRIT1):c.1793dup (p.Asn599fs)	KRIT1 (N551fs +2 more)	Duplication (frameshift variant)	Cerebral cavernous malformation	GPathogenic
Select item 2116926	NM_194454.3(KRIT1):c.1932_1933del (p.Phe645fs)	KRIT1 (F645fs +2 more)	Microsatellite (frameshift variant)	Cerebral cavernous malformation	GPathogenic
Select item 2116632	NM_194454.3(KRIT1):c.1721_1730+5del	KRIT1	Deletion (splice donor variant)	Cerebral cavernous malformation	GLikely pathogenic
Select item 2110625	NM_194454.3(KRIT1):c.1933_1936dup (p.Thr646fs)	KRIT1 (T408fs +2 more)	Duplication (frameshift variant)	Cerebral cavernous malformation	GPathogenic
Select item 2102893	NM_194454.3(KRIT1):c.990-22GTTT[4]	KRIT1	Microsatellite (intron variant)	Cerebral cavernous malformation	GLikely benign
Select item 2102716	NM_194454.3(KRIT1):c.150_151del (p.Lys51fs)	KRIT1 (K51fs)	Deletion (frameshift variant +1 more)	Cerebral cavernous malformation	GPathogenic
Select item 2099495	NM_194454.3(KRIT1):c.1600G>A (p.Glu534Lys)	KRIT1 (E486K +2 more)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation	GUncertain significance
Select item 2091148	NM_194454.3(KRIT1):c.790_818del (p.Gln264fs)	KRIT1 (Q264fs +1 more)	Deletion (frameshift variant)	Cerebral cavernous malformation	GPathogenic
Select item 2084463	NM_194454.3(KRIT1):c.1817_1818insTT (p.Lys606fs)	KRIT1 (K368fs +2 more)	Insertion (frameshift variant)	Cerebral cavernous malformation	GPathogenic
Select item 2080015	NM_194454.3(KRIT1):c.1377A>G (p.Gln459=)	KRIT1	Single nucleotide variant (synonymous variant)	Cerebral cavernous malformation	GConflicting classifications of pathogenicity
Select item 2065736	NM_194454.3(KRIT1):c.30A>G (p.Ala10=)	KRIT1	Single nucleotide variant (synonymous variant +1 more)	Cerebral cavernous malformation	GLikely benign
Select item 2056450	NM_194454.3(KRIT1):c.1775G>C (p.Ser592Thr)	KRIT1 (S354T +2 more)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation	GUncertain significance
Select item 2049624	NM_194454.3(KRIT1):c.1329A>G (p.Thr443=)	KRIT1	Single nucleotide variant (synonymous variant)	Cerebral cavernous malformation	GLikely benign
Select item 2038212	NM_194454.3(KRIT1):c.485+12C>T	KRIT1	Single nucleotide variant (intron variant)	Cerebral cavernous malformation	GLikely benign
Select item 2037726	NM_194454.3(KRIT1):c.1299T>G (p.Ser433=)	KRIT1	Single nucleotide variant (synonymous variant)	Cerebral cavernous malformation	GLikely benign
Select item 2034432	NM_194454.3(KRIT1):c.254del (p.Gly85fs)	KRIT1 (G85fs)	Deletion (frameshift variant +1 more)	Cerebral cavernous malformation	GPathogenic
Select item 2032961	NM_194454.3(KRIT1):c.1249A>T (p.Lys417Ter)	KRIT1 (K369* +2 more)	Single nucleotide variant (nonsense)	Cerebral cavernous malformation	GPathogenic
Select item 2031026	NM_194454.3(KRIT1):c.815_816insTA (p.Gln272fs)	KRIT1 (Q34fs +1 more)	Insertion (frameshift variant)	Cerebral cavernous malformation	GPathogenic
Select item 2028184	NM_194454.3(KRIT1):c.404T>A (p.Leu135Ter)	KRIT1 (L135*)	Single nucleotide variant (nonsense +1 more)	Cerebral cavernous malformation	GPathogenic
Select item 2026357	NM_194454.3(KRIT1):c.1790G>A (p.Trp597Ter)	KRIT1 (W359* +2 more)	Single nucleotide variant (nonsense)	Cerebral cavernous malformation	GPathogenic
Select item 2026173	NM_194454.3(KRIT1):c.1096_1102del (p.Gly366fs)	KRIT1 (G318fs +2 more)	Deletion (frameshift variant)	Cerebral cavernous malformation	GPathogenic
Select item 2023768	NM_194454.3(KRIT1):c.186del (p.Ser62fs)	KRIT1 (S62fs)	Deletion (frameshift variant +1 more)	Cerebral cavernous malformation	GPathogenic
Select item 2022684	NM_194454.3(KRIT1):c.1412-3C>G	KRIT1	Single nucleotide variant (intron variant)	Cerebral cavernous malformation	GUncertain significance
Select item 2021968	NM_194454.3(KRIT1):c.508C>T (p.Gln170Ter)	KRIT1 (Q170*)	Single nucleotide variant (nonsense +1 more)	Cerebral cavernous malformation	GPathogenic

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