"Invitae"[submitter] AND "KRIT1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 527121	NC_000007.13:g.(?_91570394)_(92085896_?)dup	ANKIB1, CYP51A1 +19 more	Duplication	Long QT syndrome	GUncertain significance
Select item 360878	NM_194454.3(KRIT1):c.*137del	KRIT1	Deletion (3 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +3 more	GConflicting classifications of pathogenicity
Select item 360879	NM_194454.3(KRIT1):c.*132T>G	KRIT1	Single nucleotide variant (3 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +3 more	GConflicting classifications of pathogenicity
Select item 771272	NM_194454.3(KRIT1):c.2207C>T (p.Ser736Leu)	KRIT1 (S498L +2 more)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation	GLikely benign
Select item 1513912	NM_194454.3(KRIT1):c.2189T>C (p.Met730Thr)	KRIT1 (M682T +2 more)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation	GUncertain significance
Select item 1423575	NM_194454.3(KRIT1):c.2165T>A (p.Leu722Ter)	KRIT1 (L674* +2 more)	Single nucleotide variant (nonsense)	Cerebral cavernous malformation	GUncertain significance
Select item 764593	NM_194454.3(KRIT1):c.2160A>G (p.Lys720=)	KRIT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1468342	NM_194454.3(KRIT1):c.2155G>T (p.Val719Leu)	KRIT1 (V481L +2 more)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation	GUncertain significance
Select item 578862	NM_194454.3(KRIT1):c.2152G>A (p.Val718Met)	KRIT1 (V718M +2 more)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation	GUncertain significance
Select item 468214	NM_194454.3(KRIT1):c.2143-1G>A	KRIT1	Single nucleotide variant (splice acceptor variant)	Cerebral cavernous malformation	GPathogenic
Select item 2002367	NM_194454.3(KRIT1):c.2143-2A>T	KRIT1	Single nucleotide variant (splice acceptor 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 846706	NM_194454.3(KRIT1):c.2142+1G>C	KRIT1	Single nucleotide variant (splice donor variant)	Cerebral cavernous malformation	GLikely pathogenic
Select item 1410023	NM_194454.3(KRIT1):c.2134del (p.Thr712fs)	KRIT1 (T474fs +2 more)	Deletion (frameshift variant)	Cerebral cavernous malformation	GLikely pathogenic
Select item 840942	NM_194454.3(KRIT1):c.2122_2123insAAAT (p.Phe708Ter)	KRIT1 (F470* +2 more)	Insertion (nonsense)	Cerebral cavernous malformation	GPathogenic
Select item 1074229	NM_194454.3(KRIT1):c.2113A>T (p.Lys705Ter)	KRIT1 (K467* +2 more)	Single nucleotide variant (nonsense)	Cerebral cavernous malformation	GPathogenic
Select item 1358522	NM_194454.3(KRIT1):c.2100_2101dup (p.Ser701fs)	KRIT1 (S463fs +2 more)	Duplication (frameshift variant)	Cerebral cavernous malformation	GPathogenic
Select item 930716	NM_194454.3(KRIT1):c.2102G>A (p.Ser701Asn)	KRIT1 (S701N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 590734	NM_194454.3(KRIT1):c.2092C>T (p.Gln698Ter)	KRIT1 (Q698* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1599149	NM_194454.3(KRIT1):c.2085T>A (p.Thr695=)	KRIT1	Single nucleotide variant (synonymous variant)	Cerebral cavernous malformation +1 more	GBenign/Likely benign
Select item 956530	NM_194454.3(KRIT1):c.2081del (p.Asp694fs)	KRIT1 (D456fs +2 more)	Deletion (frameshift variant)	Cerebral cavernous malformation	GPathogenic
Select item 719853	NM_194454.3(KRIT1):c.2068T>C (p.Leu690=)	KRIT1	Single nucleotide variant (synonymous variant)	Cerebral cavernous malformation +3 more	GConflicting classifications of pathogenicity
Select item 846115	NM_194454.3(KRIT1):c.2065C>T (p.Gln689Ter)	KRIT1 (Q451* +2 more)	Single nucleotide variant (nonsense)	Cerebral cavernous malformation	GPathogenic
Select item 1451895	NM_194454.3(KRIT1):c.2064G>A (p.Trp688Ter)	KRIT1 (W450* +2 more)	Single nucleotide variant (nonsense)	Cerebral cavernous malformation	GPathogenic
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 2706650	NM_194454.3(KRIT1):c.2058del (p.Phe686fs)	KRIT1 (F448fs +2 more)	Deletion (frameshift variant)	Cerebral cavernous malformation	GPathogenic
Select item 1074639	NM_194454.3(KRIT1):c.2049T>G (p.Tyr683Ter)	KRIT1 (Y445* +2 more)	Single nucleotide variant (nonsense)	Cerebral cavernous malformation	GPathogenic
Select item 771273	NM_194454.3(KRIT1):c.2046G>A (p.Lys682=)	KRIT1	Single nucleotide variant (synonymous variant)	Cerebral cavernous malformation +1 more	GBenign/Likely benign
Select item 702794	NM_194454.3(KRIT1):c.2044A>C (p.Lys682Gln)	KRIT1 (K634Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 590732	NM_194454.3(KRIT1):c.2043del (p.Lys682fs)	KRIT1 (K444fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2865469	NM_194454.3(KRIT1):c.2038dup (p.Ser680fs)	KRIT1 (S632fs +2 more)	Duplication (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 2761887	NM_194454.3(KRIT1):c.2030T>A (p.Leu677Ter)	KRIT1 (L629* +2 more)	Single nucleotide variant (nonsense)	Cerebral cavernous malformation	GPathogenic
Select item 1355783	NC_000007.14:g.92201424dup	KRIT1	Duplication	Cerebral cavernous malformation	GPathogenic
Select item 590731	NM_194454.3(KRIT1):c.2026-12A>G	KRIT1	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic
Select item 1537345	NM_194454.3(KRIT1):c.2026-20del	KRIT1	Deletion (intron variant)	Cerebral cavernous malformation	GLikely benign
Select item 468200	NC_000007.14:g.(?_92213175)_(92242155_?)del	KRIT1	Deletion	Cerebral cavernous malformation	GPathogenic
Select item 1967237	NM_194454.3(KRIT1):c.2025+3A>G	KRIT1	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1999363	NM_194454.3(KRIT1):c.2025+1G>T	KRIT1	Single nucleotide variant (splice donor variant)	Cerebral cavernous malformation	GPathogenic
Select item 1803999	NM_194454.3(KRIT1):c.2025+1G>A	KRIT1	Single nucleotide variant (splice donor 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 969557	NM_194454.3(KRIT1):c.2024del (p.Lys675fs)	KRIT1 (K437fs +2 more)	Deletion (frameshift variant)	Cerebral cavernous malformation	GPathogenic
Select item 793021	NM_194454.3(KRIT1):c.2007C>T (p.Leu669=)	KRIT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1075474	NM_194454.3(KRIT1):c.1980_1981delinsGT (p.Gly661Ter)	KRIT1 (G423* +2 more)	Indel (nonsense)	Cerebral cavernous malformation	GPathogenic
Select item 263098	NM_194454.3(KRIT1):c.1980A>G (p.Val660=)	KRIT1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 418657	NM_194454.3(KRIT1):c.1959_1960del (p.His653fs)	KRIT1 (H415fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1505094	NM_194454.3(KRIT1):c.1943C>T (p.Ala648Val)	KRIT1 (A648V +2 more)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation	GUncertain significance
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 761436	NM_194454.3(KRIT1):c.1938A>G (p.Thr646=)	KRIT1	Single nucleotide variant (synonymous variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +2 more	GConflicting classifications of pathogenicity
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 2735043	NM_194454.3(KRIT1):c.1935del (p.Phe645fs)	KRIT1 (F407fs +2 more)	Deletion (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 439853	NM_194454.3(KRIT1):c.1932dup (p.Phe645fs)	KRIT1 (F597fs +2 more)	Duplication (frameshift variant)	Cerebral cavernous malformation +1 more	GPathogenic
Select item 1422325	NM_194454.3(KRIT1):c.1927_1928del (p.Gln643fs)	KRIT1 (Q595fs +2 more)	Deletion (frameshift variant)	Cerebral cavernous malformation	GPathogenic
Select item 590726	NM_194454.3(KRIT1):c.1927C>T (p.Gln643Ter)	KRIT1 (Q643* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 735765	NM_194454.3(KRIT1):c.1914A>G (p.Ala638=)	KRIT1	Single nucleotide variant (synonymous variant)	Cerebral cavernous malformation	GLikely benign
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 439854	NM_194454.3(KRIT1):c.1890G>A (p.Trp630Ter)	KRIT1 (W630* +2 more)	Single nucleotide variant (nonsense)	not specified +1 more	GPathogenic
Select item 5718	NM_194454.3(KRIT1):c.1879C>T (p.Gln627Ter)	KRIT1 (Q389* +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 995332	NM_194454.3(KRIT1):c.1868G>A (p.Arg623His)	KRIT1 (R385H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1965922	NM_194454.3(KRIT1):c.1860C>T (p.His620=)	KRIT1	Single nucleotide variant (synonymous variant)	Cerebral cavernous malformation	GLikely benign
Select item 1453864	NM_194454.3(KRIT1):c.1859del (p.His620fs)	KRIT1 (H620fs +2 more)	Deletion (frameshift variant)	Cerebral cavernous malformation	GPathogenic
Select item 971024	NM_194454.3(KRIT1):c.1819-1G>A	KRIT1	Single nucleotide variant (splice acceptor variant)	Cerebral cavernous malformation	GPathogenic
Select item 515565	NM_194454.3(KRIT1):c.1819-12G>C	KRIT1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 659111	NM_194454.3(KRIT1):c.1818+4A>G	KRIT1	Single nucleotide variant (intron 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 1506191	NM_194454.3(KRIT1):c.1818+1G>A	KRIT1	Single nucleotide variant (splice donor variant)	Cerebral cavernous malformation	GLikely pathogenic
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 1941939	NM_194454.3(KRIT1):c.1813T>C (p.Tyr605His)	KRIT1 (Y367H +2 more)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation	GUncertain significance
Select item 263097	NM_194454.3(KRIT1):c.1809T>C (p.His603=)	KRIT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 265485	NM_194454.3(KRIT1):c.1807del (p.His603fs)	KRIT1 (H365fs +2 more)	Deletion (frameshift variant)	not specified +2 more	GPathogenic
Select item 1495187	NM_194454.3(KRIT1):c.1796A>G (p.Asn599Ser)	KRIT1 (N599S +2 more)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation	GUncertain significance
Select item 2126483	NM_194454.3(KRIT1):c.1793dup (p.Asn599fs)	KRIT1 (N551fs +2 more)	Duplication (frameshift variant)	Cerebral cavernous malformation	GPathogenic
Select item 1452671	NM_194454.3(KRIT1):c.1791G>A (p.Trp597Ter)	KRIT1 (W549* +2 more)	Single nucleotide variant (nonsense)	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 590722	NM_194454.3(KRIT1):c.1782A>G (p.Ala594=)	KRIT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely 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 1469990	NM_194454.3(KRIT1):c.1771A>G (p.Lys591Glu)	KRIT1 (K591E +2 more)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation	GUncertain significance
Select item 450666	NM_194454.3(KRIT1):c.1765A>T (p.Lys589Ter)	KRIT1 (K589* +2 more)	Single nucleotide variant (nonsense)	Cerebral cavernous malformation +1 more	GPathogenic
Select item 1905282	NM_194454.3(KRIT1):c.1753G>A (p.Val585Ile)	KRIT1 (V585I +2 more)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation	GUncertain significance
Select item 263096	NM_194454.3(KRIT1):c.1752C>T (p.Ile584=)	KRIT1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 663252	NM_194454.3(KRIT1):c.1742_1748dup (p.Ile584fs)	KRIT1 (I346fs +2 more)	Duplication (frameshift variant)	Cerebral cavernous malformation +1 more	GPathogenic
Select item 2017538	NM_194454.3(KRIT1):c.1742dup (p.Ser583fs)	KRIT1 (S345fs +2 more)	Duplication (frameshift variant)	Cerebral cavernous malformation	GPathogenic
Select item 847968	NM_194454.3(KRIT1):c.1739dup (p.Asn580fs)	KRIT1 (N532fs +2 more)	Duplication (frameshift variant)	Cerebral cavernous malformation	GPathogenic
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 2841853	NM_194454.3(KRIT1):c.1731-3C>G	KRIT1	Single nucleotide variant (intron 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 590717	NM_194454.3(KRIT1):c.1730+4_1730+7del	KRIT1	Microsatellite (splice donor variant)	not provided +1 more	GPathogenic
Select item 468213	NM_194454.3(KRIT1):c.1730+6T>G	KRIT1	Single nucleotide variant (intron variant)	Cerebral cavernous malformation	GUncertain significance
Select item 2116632	NM_194454.3(KRIT1):c.1721_1730+5del	KRIT1	Deletion (splice donor variant)	Cerebral cavernous malformation	GLikely pathogenic
Select item 590718	NM_194454.3(KRIT1):c.1730+5G>A	KRIT1	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic
Select item 572103	NM_194454.3(KRIT1):c.1730+3A>C	KRIT1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely pathogenic
Select item 1467740	NM_194454.3(KRIT1):c.1730+1G>A	KRIT1	Single nucleotide variant (splice donor 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 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 1438879	NM_194454.3(KRIT1):c.1713_1714del (p.His571fs)	KRIT1 (H333fs +2 more)	Microsatellite (frameshift variant)	Cerebral cavernous malformation	GPathogenic
Select item 590716	NM_194454.3(KRIT1):c.1710del (p.Lys570fs)	KRIT1 (K332fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1454223	NM_194454.3(KRIT1):c.1705A>T (p.Lys569Ter)	KRIT1 (K521* +2 more)	Single nucleotide variant (nonsense)	Cerebral cavernous malformation	GPathogenic
Select item 468212	NM_194454.3(KRIT1):c.1702_1703del (p.Glu567_Ser568insTer)	KRIT1	Microsatellite (nonsense)	Cerebral cavernous malformation +1 more	GPathogenic

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