Related gene-specific medical variations for Gene (Select 889) - ClinVar

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Items: 77

	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 2684133	Single allele	KRIT1	Deletion	not provided	GLikely pathogenic
Select item 2576116	NM_194454.3(KRIT1):c.1411+22T>A	KRIT1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 1807225	NM_194454.3(KRIT1):c.1959_1962dup (p.Val655Ter)	KRIT1 (V417* +2 more)	Duplication (nonsense)	not provided	GLikely pathogenic
Select item 1807224	NM_194454.3(KRIT1):c.1967del (p.Ile656fs)	KRIT1 (I418fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1679494	NM_194454.3(KRIT1):c.1308G>A (p.Leu436=)	KRIT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1679456	NM_194454.3(KRIT1):c.1874_1881del (p.Met624_Phe625insTer)	KRIT1	Deletion (nonsense)	not provided	GPathogenic
Select item 1252052	NM_194454.3(KRIT1):c.992A>G (p.Tyr331Cys)	KRIT1 (Y283C +2 more)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation	GPathogenic
Select item 996771	NM_194454.3(KRIT1):c.1151_1152insG (p.Ile384fs)	KRIT1 (I146fs +2 more)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 993606	NM_194454.3(KRIT1):c.1041T>C (p.Asn347=)	KRIT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 983360	NM_194454.3(KRIT1):c.1436A>C (p.Lys479Thr)	KRIT1 (K241T +2 more)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 978169	NM_194454.3(KRIT1):c.386G>A (p.Cys129Tyr)	KRIT1 (C129Y)	Single nucleotide variant (missense variant +1 more)	Cerebral cavernous malformation +1 more	GUncertain significance
Select item 931492	NM_194454.3(KRIT1):c.68T>G (p.Leu23Arg)	KRIT1 (L23R)	Single nucleotide variant (missense variant +1 more)	Cerebral cavernous malformation	GUncertain significance
Select item 930964	NM_194454.3(KRIT1):c.1854dup (p.His619fs)	KRIT1 (H381fs +2 more)	Duplication (frameshift variant)	Cerebral cavernous malformation	GPathogenic
Select item 911511	NM_019004.2(ANKIB1):c.-524C>A	LOC113748416, ANKIB1 +1 more	Single nucleotide variant (5 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GUncertain significance
Select item 910298	NM_019004.2(ANKIB1):c.-596C>T	ANKIB1, KRIT1 +1 more	Single nucleotide variant (5 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GUncertain significance
Select item 910297	NM_019004.2(ANKIB1):c.-603C>G	ANKIB1, KRIT1 +1 more	Single nucleotide variant (5 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GUncertain significance
Select item 909329	NM_194456.1(KRIT1):c.-647T>C	KRIT1, LOC113748416	Single nucleotide variant (5 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GUncertain significance
Select item 909328	NM_194456.1(KRIT1):c.-632A>C	KRIT1, LOC113748416	Single nucleotide variant (5 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GUncertain significance
Select item 815009	GRCh37/hg19 7q21.2(chr7:91809746-91836087)x1	KRIT1	Copy number loss	not provided	GPathogenic
Select item 811393	NM_194454.3(KRIT1):c.1315G>T (p.Gly439Ter)	KRIT1 (G201* +2 more)	Single nucleotide variant (nonsense)	not specified	GPathogenic
Select item 810128	NM_194454.3(KRIT1):c.1425A>G (p.Lys475=)	KRIT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 618697	NM_194454.3(KRIT1):c.1775del (p.Ser592fs)	KRIT1 (S354fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 618696	NM_194454.3(KRIT1):c.815A>G (p.Gln272Arg)	KRIT1 (Q272R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 590761	NM_194454.3(KRIT1):c.972del (p.Ile325fs)	KRIT1 (I87fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 590760	NM_194454.3(KRIT1):c.947_948insAC (p.Leu317fs)	KRIT1 (L79fs +1 more)	Insertion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 590754	NM_194454.3(KRIT1):c.790_794del (p.Gln264fs)	KRIT1 (Q264fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 590751	NM_194454.3(KRIT1):c.712C>T (p.Leu238Phe)	KRIT1 (L238F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 590750	NM_194454.3(KRIT1):c.707C>G (p.Ser236Ter)	KRIT1 (S236*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 590749	NM_194454.3(KRIT1):c.679dup (p.Thr227fs)	KRIT1 (T227fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 590745	NM_194454.3(KRIT1):c.587del (p.Ala196fs)	KRIT1 (A196fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 590744	NM_194454.3(KRIT1):c.488G>A (p.Trp163Ter)	KRIT1 (W163*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 590743	NM_194454.3(KRIT1):c.418C>T (p.Arg140Ter)	KRIT1 (R140*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 590742	NM_194454.3(KRIT1):c.391A>G (p.Ile131Val)	KRIT1 (I131V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 590741	NM_194454.3(KRIT1):c.363_369del (p.Lys122fs)	KRIT1 (K122fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 590738	NM_194454.3(KRIT1):c.262+142T>G	KRIT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 590737	NM_194454.3(KRIT1):c.249_250dup (p.Gln84fs)	KRIT1 (Q84fs)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 590736	NM_194454.3(KRIT1):c.2143-1G>C	KRIT1	Single nucleotide variant (splice acceptor variant)	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 590733	NM_194454.3(KRIT1):c.2083dup (p.Thr695fs)	KRIT1 (T695fs +2 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 590730	NM_194454.3(KRIT1):c.2025+2T>C	KRIT1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 590729	NM_194454.3(KRIT1):c.2025+26A>G	KRIT1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 590728	NM_194454.3(KRIT1):c.2000T>G (p.Leu667Arg)	KRIT1 (L667R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 590727	NM_194454.3(KRIT1):c.1988A>G (p.Asn663Ser)	KRIT1 (N663S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 590725	NM_194454.3(KRIT1):c.1897_1903del (p.Pro633fs)	KRIT1 (P395fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 590724	NM_194454.3(KRIT1):c.1885T>C (p.Cys629Arg)	KRIT1 (C629R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 590723	NM_194454.3(KRIT1):c.1815C>G (p.Tyr605Ter)	KRIT1 (Y605* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 590721	NM_194454.3(KRIT1):c.1754dup (p.Pro586fs)	KRIT1 (P538fs +2 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 590720	NM_194454.3(KRIT1):c.1739del (p.Asn580fs)	KRIT1 (N342fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 590715	NM_194454.3(KRIT1):c.1666del (p.Ser556fs)	KRIT1 (S508fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 590714	NM_194454.3(KRIT1):c.1657dup (p.Thr553fs)	KRIT1 (T315fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 590713	NM_194454.3(KRIT1):c.1616T>A (p.Leu539Ter)	KRIT1 (L539* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 590708	NM_194454.3(KRIT1):c.1477G>T (p.Glu493Ter)	KRIT1 (E493* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 590707	NM_194454.3(KRIT1):c.1470dup (p.Leu491fs)	KRIT1 (L443fs +2 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 590706	NM_194454.3(KRIT1):c.1421_1422dup (p.Lys475fs)	KRIT1 (K427fs +2 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 590702	NM_194454.3(KRIT1):c.1406dup (p.Asn469fs)	KRIT1 (N421fs +2 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 590699	NM_194454.3(KRIT1):c.1358dup (p.Ser454fs)	KRIT1 (S406fs +2 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 590698	NM_194454.3(KRIT1):c.1355_1359del (p.Arg452fs)	KRIT1 (R214fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 590695	NM_194454.3(KRIT1):c.1263_1267delinsTGTA (p.Lys421fs)	KRIT1 (K373fs +2 more)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 590693	NM_194454.3(KRIT1):c.1237del (p.Glu413fs)	KRIT1 (E175fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 590692	NM_194454.3(KRIT1):c.1237_1240del (p.Glu413fs)	KRIT1 (E365fs +2 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 590690	NM_194454.3(KRIT1):c.1146+1G>C	KRIT1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 590688	NM_194454.3(KRIT1):c.1043C>T (p.Pro348Leu)	KRIT1 (P348L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 590686	NM_194454.3(KRIT1):c.-346G>A	KRIT1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 360909	NM_019004.2(ANKIB1):c.-516CCGGAG[4]	ANKIB1, KRIT1 +1 more	Microsatellite (5 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GUncertain significance
Select item 360908	NM_019004.2(ANKIB1):c.-553G>A	ANKIB1, KRIT1 +1 more	Single nucleotide variant (5 prime UTR variant)	Cerebral cavernous malformation +1 more	GBenign
Select item 360907	NM_019004.2(ANKIB1):c.-593G>A	ANKIB1, KRIT1 +1 more	Single nucleotide variant (5 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +2 more	GBenign/Likely benign
Select item 360906	NM_019004.2(ANKIB1):c.-605T>C	ANKIB1, KRIT1 +1 more	Single nucleotide variant (5 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +2 more	GBenign/Likely benign
Select item 360905	NM_019004.2(ANKIB1):c.-614C>T	ANKIB1, KRIT1 +1 more	Single nucleotide variant (5 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +2 more	GBenign
Select item 360904	NM_194456.1(KRIT1):c.-628T>A	KRIT1, LOC113748416	Single nucleotide variant (5 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GUncertain significance
Select item 360903	NM_194454.3(KRIT1):c.-538C>T	KRIT1, LOC113748416	Single nucleotide variant (5 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GUncertain significance
Select item 360902	NM_194454.3(KRIT1):c.-529C>T	KRIT1, LOC113748416	Single nucleotide variant (5 prime UTR variant +1 more)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GUncertain significance
Select item 360901	NM_194454.3(KRIT1):c.-525G>T	KRIT1, LOC113748416	Single nucleotide variant (5 prime UTR variant +1 more)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GBenign
Select item 263100	NM_194454.3(KRIT1):c.486-37C>G	KRIT1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 263099	NM_194454.3(KRIT1):c.355+29_355+30del	KRIT1	Deletion (intron variant)	not specified	GLikely benign
Select item 5727	KRIT1, 1-BP INS, 1374C	KRIT1	Insertion	Cavernous malformations of CNS and retina	GPathogenic

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Items: 77