1573[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 155204	GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1	LOC129998788, LOC129998789 +227 more	Copy number loss	See cases	GPathogenic
Select item 527121	NC_000007.13:g.(?_91570394)_(92085896_?)dup	AKAP9, ANKIB1 +19 more	Duplication	Long QT syndrome	GUncertain significance
Select item 360861	NM_194456.1(KRIT1):c.*1750C>T	KRIT1	Single nucleotide variant (3 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GBenign/Likely benign
Select item 360862	NM_194456.1(KRIT1):c.*1702A>G	KRIT1	Single nucleotide variant (3 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GBenign
Select item 360863	NM_194456.1(KRIT1):c.*1655T>G	KRIT1	Single nucleotide variant (3 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GUncertain significance
Select item 912216	NM_194456.1(KRIT1):c.*1555A>G	KRIT1	Single nucleotide variant (3 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GUncertain significance
Select item 912217	NM_194456.1(KRIT1):c.*1530T>C	KRIT1	Single nucleotide variant (3 prime UTR variant)	Cerebral cavernous malformation +1 more	GBenign/Likely benign
Select item 908213	NM_194456.1(KRIT1):c.*1457T>C	KRIT1	Single nucleotide variant (3 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GUncertain significance
Select item 360864	NM_194456.1(KRIT1):c.*1444T>G	KRIT1	Single nucleotide variant (3 prime UTR variant)	Cerebral cavernous malformation +1 more	GBenign
Select item 360865	NM_194456.1(KRIT1):c.*1385A>G	KRIT1	Single nucleotide variant (3 prime UTR variant)	Cerebral cavernous malformation +2 more	GBenign
Select item 360866	NM_194456.1(KRIT1):c.*1363T>G	KRIT1	Single nucleotide variant (3 prime UTR variant)	Cerebral cavernous malformation +2 more	GBenign/Likely benign
Select item 910155	NM_194456.1(KRIT1):c.*1357A>C	KRIT1	Single nucleotide variant (3 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GUncertain significance
Select item 360867	NM_194456.1(KRIT1):c.*1335T>C	KRIT1	Single nucleotide variant (3 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GBenign
Select item 910156	NM_194454.3(KRIT1):c.*1205T>C	KRIT1	Single nucleotide variant (3 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GUncertain significance
Select item 910157	NM_194454.3(KRIT1):c.*1029T>G	KRIT1	Single nucleotide variant (3 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GUncertain significance
Select item 911042	NM_194454.3(KRIT1):c.*918C>T	KRIT1	Single nucleotide variant (3 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GUncertain significance
Select item 360868	NM_194454.3(KRIT1):c.*885A>T	KRIT1	Single nucleotide variant (3 prime UTR variant)	Cerebral cavernous malformation +1 more	GUncertain significance
Select item 911043	NM_194454.3(KRIT1):c.*859C>T	KRIT1	Single nucleotide variant (3 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GUncertain significance
Select item 911044	NM_194454.3(KRIT1):c.*648A>G	KRIT1	Single nucleotide variant (3 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GUncertain significance
Select item 360869	NM_194454.3(KRIT1):c.*578A>G	KRIT1	Single nucleotide variant (3 prime UTR variant)	Cerebral cavernous malformation +1 more	GUncertain significance
Select item 360870	NM_194454.3(KRIT1):c.*451T>C	KRIT1	Single nucleotide variant (3 prime UTR variant)	Cerebral cavernous malformation +1 more	GUncertain significance
Select item 912280	NM_194454.3(KRIT1):c.*450A>T	KRIT1	Single nucleotide variant (3 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GUncertain significance
Select item 360871	NM_194454.3(KRIT1):c.*436C>T	KRIT1	Single nucleotide variant (3 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GUncertain significance
Select item 360872	NM_194454.3(KRIT1):c.*378dup	KRIT1	Duplication (3 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GBenign
Select item 360873	NM_194454.3(KRIT1):c.371_372insG	KRIT1	Insertion (3 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GUncertain significance
Select item 360874	NM_194454.3(KRIT1):c.*361C>G	KRIT1	Single nucleotide variant (3 prime UTR variant)	Cerebral cavernous malformation +1 more	GUncertain significance
Select item 908282	NM_194454.3(KRIT1):c.*331G>A	KRIT1	Single nucleotide variant (3 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GUncertain significance
Select item 360875	NM_194454.3(KRIT1):c.*320C>T	KRIT1	Single nucleotide variant (3 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +2 more	GBenign
Select item 360876	NM_194454.3(KRIT1):c.*272G>A	KRIT1	Single nucleotide variant (3 prime UTR variant)	Cerebral cavernous malformation +2 more	GBenign
Select item 910228	NM_194454.3(KRIT1):c.*234G>A	KRIT1	Single nucleotide variant (3 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GBenign/Likely benign
Select item 910229	NM_194454.3(KRIT1):c.*182A>G	KRIT1	Single nucleotide variant (3 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GUncertain significance
Select item 360877	NM_194454.3(KRIT1):c.*141C>T	KRIT1	Single nucleotide variant (3 prime UTR variant)	Cerebral cavernous malformation +2 more	GBenign
Select item 360878	NM_194454.3(KRIT1):c.*137del	KRIT1	Deletion (3 prime UTR variant)	Cerebral cavernous malformation +2 more	GConflicting classifications of pathogenicity
Select item 360879	NM_194454.3(KRIT1):c.*132T>G	KRIT1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3040068	NM_194454.3(KRIT1):c.*127G>A	KRIT1	Single nucleotide variant (3 prime UTR variant)	KRIT1-related disorder	GLikely benign
Select item 911122	NM_194454.3(KRIT1):c.*102C>T	KRIT1	Single nucleotide variant (3 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GUncertain significance
Select item 911123	NM_194454.3(KRIT1):c.*77T>C	KRIT1	Single nucleotide variant (3 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GUncertain significance
Select item 360880	NM_194454.3(KRIT1):c.*62A>C	KRIT1	Single nucleotide variant (3 prime UTR variant)	Cerebral cavernous malformation +1 more	GUncertain significance
Select item 360881	NM_194454.3(KRIT1):c.*57G>A	KRIT1	Single nucleotide variant (3 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GBenign/Likely benign
Select item 911326	NM_194454.3(KRIT1):c.*46G>A	KRIT1	Single nucleotide variant (3 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GConflicting classifications of pathogenicity
Select item 911327	NM_194454.3(KRIT1):c.*8G>A	KRIT1	Single nucleotide variant (3 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GUncertain significance
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)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3035010	NM_194454.3(KRIT1):c.2151C>T (p.Leu717=)	KRIT1	Single nucleotide variant (synonymous variant)	KRIT1-related disorder	GLikely benign
Select item 590736	NM_194454.3(KRIT1):c.2143-1G>C	KRIT1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
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 2581882	NM_194454.3(KRIT1):c.2142+2dup	KRIT1	Duplication (splice donor variant)	not provided	GLikely pathogenic
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 3026530	NM_194454.3(KRIT1):c.2140C>T (p.Gln714Ter)	KRIT1 (Q476* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 590735	NM_194454.3(KRIT1):c.2139del (p.Lys713fs)	KRIT1 (K475fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 507128	NM_194454.3(KRIT1):c.2136A>G (p.Thr712=)	KRIT1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 522190	NM_194454.3(KRIT1):c.2119_2120del (p.Ser707fs)	KRIT1 (S469fs +2 more)	Deletion (frameshift variant)	Cerebral cavernous malformation	GPathogenic
Select item 2632709	NM_194454.3(KRIT1):c.2116A>G (p.Met706Val)	KRIT1 (M468V +2 more)	Single nucleotide variant (missense variant)	KRIT1-related disorder	GUncertain significance
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 3289309	NM_194454.3(KRIT1):c.2104A>G (p.Met702Val)	KRIT1 (M654V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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)	Cerebral cavernous malformation +1 more	GUncertain significance
Select item 590734	NM_194454.3(KRIT1):c.2092C>T (p.Gln698Ter)	KRIT1 (Q698* +2 more)	Single nucleotide variant (nonsense)	Cerebral cavernous malformation +1 more	GPathogenic
Select item 3116287	NM_194454.3(KRIT1):c.2086T>A (p.Cys696Ser)	KRIT1 (C458S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1599149	NM_194454.3(KRIT1):c.2085T>A (p.Thr695=)	KRIT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 360882	NM_194454.3(KRIT1):c.2074GATACT[1] (p.692DT[1])	KRIT1	Microsatellite (inframe_deletion)	Cerebral cavernous malformation +1 more	GUncertain significance
Select item 590733	NM_194454.3(KRIT1):c.2083dup (p.Thr695fs)	KRIT1 (T695fs +2 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2573760	NM_194454.3(KRIT1):c.2068_2083del (p.Gly691fs)	KRIT1 (G453fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 956530	NM_194454.3(KRIT1):c.2081del (p.Asp694fs)	KRIT1 (D456fs +2 more)	Deletion (frameshift variant)	Cerebral cavernous malformation	GPathogenic
Select item 2444729	NM_194454.3(KRIT1):c.2068T>A (p.Leu690Met)	KRIT1 (L452M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 719853	NM_194454.3(KRIT1):c.2068T>C (p.Leu690=)	KRIT1	Single nucleotide variant (synonymous variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +2 more	GConflicting classifications of pathogenicity
Select item 1785298	NM_194454.3(KRIT1):c.2067A>G (p.Gln689=)	KRIT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 452414	NM_194454.3(KRIT1):c.2053T>C (p.Cys685Arg)	KRIT1 (C685R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 3340458	NM_194454.3(KRIT1):c.2044A>T (p.Lys682Ter)	KRIT1 (K444* +2 more)	Single nucleotide variant (nonsense)	Cerebral cavernous malformation	GPathogenic
Select item 702794	NM_194454.3(KRIT1):c.2044A>C (p.Lys682Gln)	KRIT1 (K634Q +2 more)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation +2 more	GConflicting classifications of pathogenicity
Select item 590732	NM_194454.3(KRIT1):c.2043del (p.Lys682fs)	KRIT1 (K444fs +2 more)	Deletion (frameshift variant)	Cerebral cavernous malformation +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)	Cerebral cavernous malformation +1 more	GPathogenic/Likely pathogenic
Select item 1537345	NM_194454.3(KRIT1):c.2026-20del	KRIT1	Deletion (intron variant)	Cerebral cavernous malformation	GLikely benign
Select item 590729	NM_194454.3(KRIT1):c.2025+26A>G	KRIT1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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)	Cerebral cavernous malformation +1 more	GUncertain significance
Select item 590730	NM_194454.3(KRIT1):c.2025+2T>C	KRIT1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
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

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