"Ambry Genetics"[submitter] AND "KRIT1"[gene] - ClinVar

Search results

Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 930716	NM_194454.3(KRIT1):c.2102G>A (p.Ser701Asn)	KRIT1 (S701N +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 1785298	NM_194454.3(KRIT1):c.2067A>G (p.Gln689=)	KRIT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 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 1967237	NM_194454.3(KRIT1):c.2025+3A>G	KRIT1	Single nucleotide variant (intron variant)	Cerebral cavernous malformation +1 more	GUncertain significance
Select item 2469495	NM_194454.3(KRIT1):c.2014A>C (p.Met672Leu)	KRIT1 (M434L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278846	NM_194454.3(KRIT1):c.2002C>A (p.His668Asn)	KRIT1 (H620N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307594	NM_194454.3(KRIT1):c.1996G>C (p.Gly666Arg)	KRIT1 (G428R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1783614	NM_194454.3(KRIT1):c.1970C>T (p.Pro657Leu)	KRIT1 (P609L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 995332	NM_194454.3(KRIT1):c.1868G>A (p.Arg623His)	KRIT1 (R385H +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 263097	NM_194454.3(KRIT1):c.1809T>C (p.His603=)	KRIT1	Single nucleotide variant (synonymous variant)	Cerebral cavernous malformation +3 more	GBenign/Likely benign
Select item 1495187	NM_194454.3(KRIT1):c.1796A>G (p.Asn599Ser)	KRIT1 (N599S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 590722	NM_194454.3(KRIT1):c.1782A>G (p.Ala594=)	KRIT1	Single nucleotide variant (synonymous variant)	Cerebral cavernous malformation +2 more	GBenign/Likely benign
Select item 1905282	NM_194454.3(KRIT1):c.1753G>A (p.Val585Ile)	KRIT1 (V585I +2 more)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation +1 more	GUncertain significance
Select item 263096	NM_194454.3(KRIT1):c.1752C>T (p.Ile584=)	KRIT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 2533693	NM_194454.3(KRIT1):c.1688A>G (p.Tyr563Cys)	KRIT1 (Y563C +2 more)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation +1 more	GConflicting classifications of pathogenicity
Select item 2281999	NM_194454.3(KRIT1):c.1681A>G (p.Ile561Val)	KRIT1 (I513V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246073	NM_194454.3(KRIT1):c.1658C>T (p.Thr553Ile)	KRIT1 (T315I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3229474	NM_194454.3(KRIT1):c.1640C>T (p.Pro547Leu)	KRIT1 (P309L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1775329	NM_194454.3(KRIT1):c.1564A>G (p.Ile522Val)	KRIT1 (I522V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1518169	NM_194454.3(KRIT1):c.1553T>C (p.Val518Ala)	KRIT1 (V518A +2 more)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation +1 more	GUncertain significance
Select item 1773062	NM_194454.3(KRIT1):c.1456G>A (p.Asp486Asn)	KRIT1 (D248N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2430327	NM_194454.3(KRIT1):c.1453C>T (p.Arg485Cys)	KRIT1 (R247C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1411952	NM_194454.3(KRIT1):c.1419A>G (p.Gln473=)	KRIT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1771352	NM_194454.3(KRIT1):c.1384A>G (p.Thr462Ala)	KRIT1 (T414A +2 more)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation +1 more	GLikely benign
Select item 450697	NM_194454.3(KRIT1):c.1369A>G (p.Thr457Ala)	KRIT1 (T457A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 760738	NM_194454.3(KRIT1):c.1355G>A (p.Arg452His)	KRIT1 (R452H +2 more)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation +1 more	GLikely benign
Select item 1770664	NM_194454.3(KRIT1):c.1354C>T (p.Arg452Cys)	KRIT1 (R404C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231631	NM_194454.3(KRIT1):c.1338G>C (p.Gln446His)	KRIT1 (Q208H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2625373	NM_194454.3(KRIT1):c.1332G>A (p.Val444=)	KRIT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 263094	NM_194454.3(KRIT1):c.1326C>G (p.Thr442=)	KRIT1	Single nucleotide variant (synonymous variant)	Cerebral cavernous malformation +3 more	GConflicting classifications of pathogenicity
Select item 704057	NM_194454.3(KRIT1):c.1306T>C (p.Leu436=)	KRIT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3229473	NM_194454.3(KRIT1):c.1292A>G (p.Tyr431Cys)	KRIT1 (Y193C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1768999	NM_194454.3(KRIT1):c.1287G>T (p.Gly429=)	KRIT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 590696	NM_194454.3(KRIT1):c.1264G>A (p.Val422Ile)	KRIT1 (V422I +2 more)	Single nucleotide variant (missense variant)	KRIT1-related disorder +2 more	GUncertain significance
Select item 360884	NM_194454.3(KRIT1):c.1245T>G (p.Ile415Met)	KRIT1 (I415M +2 more)	Single nucleotide variant (missense variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +3 more	GBenign/Likely benign
Select item 3289313	NM_194454.3(KRIT1):c.1243A>T (p.Ile415Phe)	KRIT1 (I177F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289310	NM_194454.3(KRIT1):c.1230G>T (p.Leu410Phe)	KRIT1 (L172F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1754906	NM_194454.3(KRIT1):c.1228T>C (p.Leu410=)	KRIT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3289311	NM_194454.3(KRIT1):c.1220C>G (p.Ala407Gly)	KRIT1 (A359G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116286	NM_194454.3(KRIT1):c.1195A>G (p.Asn399Asp)	KRIT1 (N399D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 263093	NM_194454.3(KRIT1):c.1140G>A (p.Thr380=)	KRIT1	Single nucleotide variant (synonymous variant)	Cerebral cavernous malformation +4 more	GBenign/Likely benign
Select item 468204	NM_194454.3(KRIT1):c.1134A>T (p.Pro378=)	KRIT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 263092	NM_194454.3(KRIT1):c.1095A>G (p.Gly365=)	KRIT1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 3289312	NM_194454.3(KRIT1):c.1070C>G (p.Ser357Cys)	KRIT1 (S119C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1467124	NM_194454.3(KRIT1):c.1012C>T (p.Arg338Cys)	KRIT1 (R290C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2247803	NM_194454.3(KRIT1):c.947A>G (p.Gln316Arg)	KRIT1 (Q316R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1767082	NM_194454.3(KRIT1):c.947A>C (p.Gln316Pro)	KRIT1 (Q316P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1766073	NM_194454.3(KRIT1):c.917G>A (p.Arg306His)	KRIT1 (R306H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3116290	NM_194454.3(KRIT1):c.916C>T (p.Arg306Cys)	KRIT1 (R68C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2219498	NM_194454.3(KRIT1):c.886G>A (p.Ala296Thr)	KRIT1 (A58T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2229666	NM_194454.3(KRIT1):c.871C>T (p.Pro291Ser)	KRIT1 (P291S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3116289	NM_194454.3(KRIT1):c.730-5T>A	KRIT1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3289308	NM_194454.3(KRIT1):c.699G>T (p.Leu233Phe)	KRIT1 (L233F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2596686	NM_194454.3(KRIT1):c.689A>G (p.Tyr230Cys)	KRIT1 (Y230C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2206494	NM_194454.3(KRIT1):c.647A>G (p.Lys216Arg)	KRIT1 (K216R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3116288	NM_194454.3(KRIT1):c.631A>G (p.Ser211Gly)	KRIT1 (S211G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301250	NM_194454.3(KRIT1):c.625G>A (p.Gly209Ser)	KRIT1 (G209S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1751771	NM_194454.3(KRIT1):c.612C>T (p.Asn204=)	KRIT1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 590746	NM_194454.3(KRIT1):c.589A>G (p.Thr197Ala)	KRIT1 (T197A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3034035	NM_194454.3(KRIT1):c.549T>G (p.Leu183=)	KRIT1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1107889	NM_194454.3(KRIT1):c.525A>G (p.Pro175=)	KRIT1	Single nucleotide variant (synonymous variant +1 more)	Cerebral cavernous malformation +1 more	GLikely benign
Select item 263101	NM_194454.3(KRIT1):c.510A>G (p.Gln170=)	KRIT1	Single nucleotide variant (synonymous variant +1 more)	Cerebral cavernous malformation +2 more	GLikely benign
Select item 3289306	NM_194454.3(KRIT1):c.416T>C (p.Met139Thr)	KRIT1 (M139T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3289307	NM_194454.3(KRIT1):c.376A>T (p.Thr126Ser)	KRIT1 (T126S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2592990	NM_194454.3(KRIT1):c.292C>T (p.Pro98Ser)	KRIT1 (P98S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 590739	NM_194454.3(KRIT1):c.264A>G (p.Gly88=)	KRIT1	Single nucleotide variant (synonymous variant +1 more)	Cerebral cavernous malformation +2 more	GLikely benign
Select item 2244814	NM_194454.3(KRIT1):c.244G>A (p.Ala82Thr)	KRIT1 (A82T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 783247	NM_194454.3(KRIT1):c.235A>G (p.Ile79Val)	KRIT1 (I79V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1786886	NM_194454.3(KRIT1):c.215T>C (p.Val72Ala)	KRIT1 (V72A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2448146	NM_194454.3(KRIT1):c.198A>G (p.Gln66=)	KRIT1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 279827	NM_194454.3(KRIT1):c.151_154del (p.Lys51fs)	KRIT1 (K51fs)	Microsatellite (frameshift variant +1 more)	not provided +2 more	GPathogenic
Select item 1727906	NM_194454.3(KRIT1):c.112C>T (p.His38Tyr)	KRIT1 (H38Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1759205	NM_194454.3(KRIT1):c.74C>T (p.Ser25Phe)	KRIT1 (S25F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 909259	NM_194454.3(KRIT1):c.46C>T (p.Arg16Cys)	KRIT1 (R16C)	Single nucleotide variant (missense variant +1 more)	Angiokeratoma corporis diffusum with arteriovenous fistulas +2 more	GConflicting classifications of pathogenicity

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Items: 79