C1838141[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

Search results

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 360861	NM_194456.1(KRIT1):c.*1750C>T	KRIT1	Single nucleotide variant (3 prime UTR variant)	Cerebral cavernous malformation +1 more	GBenign/Likely benign
Select item 360862	NM_194456.1(KRIT1):c.*1702A>G	KRIT1	Single nucleotide variant (3 prime UTR variant)	Cerebral cavernous malformation +1 more	GBenign
Select item 360863	NM_194456.1(KRIT1):c.*1655T>G	KRIT1	Single nucleotide variant (3 prime UTR variant)	Cerebral cavernous malformation +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)	Angiokeratoma corporis diffusum with arteriovenous fistulas +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 +1 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)	Cerebral cavernous malformation +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)	Cerebral cavernous malformation +1 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)	Angiokeratoma corporis diffusum with arteriovenous fistulas +3 more	GBenign
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 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 360882	NM_194454.3(KRIT1):c.2074GATACT[1] (p.692DT[1])	KRIT1	Microsatellite (inframe_deletion)	Cerebral cavernous malformation +1 more	GUncertain significance
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 263098	NM_194454.3(KRIT1):c.1980A>G (p.Val660=)	KRIT1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 908345	NM_194454.3(KRIT1):c.1974G>A (p.Val658=)	KRIT1	Single nucleotide variant (synonymous variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	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 263097	NM_194454.3(KRIT1):c.1809T>C (p.His603=)	KRIT1	Single nucleotide variant (synonymous variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +3 more	GBenign/Likely benign
Select item 360883	NM_194454.3(KRIT1):c.1412-9G>A	KRIT1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 263094	NM_194454.3(KRIT1):c.1326C>G (p.Thr442=)	KRIT1	Single nucleotide variant (synonymous variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +3 more	GConflicting classifications of pathogenicity
Select item 360884	NM_194454.3(KRIT1):c.1245T>G (p.Ile415Met)	KRIT1 (I415M +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 909189	NM_194454.3(KRIT1):c.1148A>G (p.His383Arg)	KRIT1 (H145R +2 more)	Single nucleotide variant (missense variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GUncertain significance
Select item 360885	NM_194454.3(KRIT1):c.1146+8A>T	KRIT1	Single nucleotide variant (intron variant)	Cerebral cavernous malformation +1 more	GBenign/Likely benign
Select item 263093	NM_194454.3(KRIT1):c.1140G>A (p.Thr380=)	KRIT1	Single nucleotide variant (synonymous variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +4 more	GBenign/Likely benign
Select item 360886	NM_194454.3(KRIT1):c.1139C>T (p.Thr380Met)	KRIT1 (T380M +2 more)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation +1 more	GConflicting classifications of pathogenicity
Select item 263092	NM_194454.3(KRIT1):c.1095A>G (p.Gly365=)	KRIT1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 360887	NM_194454.3(KRIT1):c.1063C>T (p.Leu355Phe)	KRIT1 (L355F +2 more)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation +1 more	GConflicting classifications of pathogenicity
Select item 360888	NM_194454.3(KRIT1):c.846-5dup	KRIT1	Duplication (intron variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +3 more	GBenign/Likely benign
Select item 911388	NM_194454.3(KRIT1):c.846-15C>T	KRIT1	Single nucleotide variant (intron variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GConflicting classifications of pathogenicity
Select item 911389	NM_194454.3(KRIT1):c.845+10C>G	KRIT1	Single nucleotide variant (intron variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GConflicting classifications of pathogenicity
Select item 734824	NM_194454.3(KRIT1):c.845+10C>T	KRIT1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 911390	NM_194454.3(KRIT1):c.755A>G (p.Tyr252Cys)	KRIT1 (Y252C +1 more)	Single nucleotide variant (missense variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GUncertain significance
Select item 468216	NM_194454.3(KRIT1):c.451A>G (p.Thr151Ala)	KRIT1 (T151A)	Single nucleotide variant (missense variant +1 more)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GUncertain significance
Select item 360889	NM_194454.3(KRIT1):c.302G>T (p.Gly101Val)	KRIT1 (G101V)	Single nucleotide variant (missense variant +1 more)	Cerebral cavernous malformation +1 more	GBenign/Likely benign
Select item 908410	NM_194454.3(KRIT1):c.230A>G (p.Lys77Arg)	KRIT1 (K77R)	Single nucleotide variant (missense variant +1 more)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GUncertain significance
Select item 908411	NM_194454.3(KRIT1):c.136A>G (p.Lys46Glu)	KRIT1 (K46E)	Single nucleotide variant (missense variant +1 more)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GUncertain significance
Select item 360890	NM_194454.3(KRIT1):c.77G>A (p.Arg26Gln)	KRIT1 (R26Q)	Single nucleotide variant (missense variant +1 more)	Cerebral cavernous malformation +2 more	GBenign/Likely benign
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
Select item 360891	NM_194454.3(KRIT1):c.-2-7T>C	KRIT1	Single nucleotide variant (intron variant)	Cerebral cavernous malformation +2 more	GBenign/Likely benign
Select item 360892	NM_194454.3(KRIT1):c.-43C>T	KRIT1	Single nucleotide variant (5 prime UTR variant +1 more)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GBenign/Likely benign
Select item 360893	NM_194454.3(KRIT1):c.-174C>A	KRIT1	Single nucleotide variant (5 prime UTR variant +1 more)	Cerebral cavernous malformation +1 more	GUncertain significance
Select item 911256	NM_194454.3(KRIT1):c.-291T>C	KRIT1	Single nucleotide variant (5 prime UTR variant +1 more)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GUncertain significance
Select item 360894	NM_194454.3(KRIT1):c.-307A>T	KRIT1	Single nucleotide variant (5 prime UTR variant +1 more)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GUncertain significance
Select item 360895	NM_194454.3(KRIT1):c.-312A>G	KRIT1	Single nucleotide variant (5 prime UTR variant +1 more)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GBenign/Likely benign
Select item 360896	NM_194454.3(KRIT1):c.-356G>A	KRIT1	Single nucleotide variant (5 prime UTR variant +1 more)	Cerebral cavernous malformation +1 more	GBenign/Likely benign
Select item 360897	NM_194454.3(KRIT1):c.-394C>T	KRIT1	Single nucleotide variant (5 prime UTR variant +1 more)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GUncertain significance
Select item 360898	NM_194454.3(KRIT1):c.-420-276C>G	KRIT1	Single nucleotide variant (5 prime UTR variant +1 more)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GUncertain significance
Select item 360899	NM_194454.3(KRIT1):c.-421+240C>G	KRIT1	Single nucleotide variant (5 prime UTR variant +1 more)	Cerebral cavernous malformation +1 more	GUncertain significance
Select item 360900	NM_194454.3(KRIT1):c.-421+190G>T	KRIT1	Single nucleotide variant (5 prime UTR variant +1 more)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GUncertain significance
Select item 908478	NM_194454.3(KRIT1):c.-421+185C>A	KRIT1	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 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 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 360904	NM_194456.1(KRIT1):c.-628T>A	KRIT1, LOC113748416	Single nucleotide variant (5 prime UTR variant)	Cerebral cavernous malformation +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 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 360905	NM_019004.2(ANKIB1):c.-614C>T	ANKIB1, KRIT1 +1 more	Single nucleotide variant (5 prime UTR variant)	Cerebral cavernous malformation +2 more	GBenign
Select item 360906	NM_019004.2(ANKIB1):c.-605T>C	ANKIB1, KRIT1 +1 more	Single nucleotide variant (5 prime UTR variant)	Cerebral cavernous malformation +2 more	GBenign/Likely benign
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 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 360907	NM_019004.2(ANKIB1):c.-593G>A	ANKIB1, KRIT1 +1 more	Single nucleotide variant (5 prime UTR variant)	Cerebral cavernous malformation +2 more	GBenign/Likely benign
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 911511	NM_019004.2(ANKIB1):c.-524C>A	ANKIB1, LOC113748416 +1 more	Single nucleotide variant (5 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GUncertain significance
Select item 360909	NM_019004.2(ANKIB1):c.-516CCGGAG[4]	ANKIB1, KRIT1 +1 more	Microsatellite (5 prime UTR variant)	Cerebral cavernous malformation +1 more	GUncertain significance

ClinVar

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Items: 90