"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "KRIT1"[gen - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 360866	NM_194456.1(KRIT1):c.*1363T>G	KRIT1	Single nucleotide variant (3 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +2 more	GBenign/Likely benign
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 3026530	NM_194454.3(KRIT1):c.2140C>T (p.Gln714Ter)	KRIT1 (Q476* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 871122	NM_194454.3(KRIT1):c.1608_1633del (p.Arg536fs)	KRIT1 (R488fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 372399	NM_194454.3(KRIT1):c.1524_1528del (p.Arg510fs)	KRIT1 (R510fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 810128	NM_194454.3(KRIT1):c.1425A>G (p.Lys475=)	KRIT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 590752	NM_194454.3(KRIT1):c.729+1G>A	KRIT1	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
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 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 2579041	GRCh37/hg19 7q21.2(chr7:91830050-91830737)x1	KRIT1	Copy number loss	not provided	GLikely pathogenic