"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "KRIT1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 590717	NM_194454.3(KRIT1):c.1730+4_1730+7del	KRIT1	Microsatellite (splice donor variant)	not provided +1 more	GPathogenic
Select item 3379774	NM_194454.3(KRIT1):c.1256A>G (p.Tyr419Cys)	KRIT1 (Y181C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 372398	NM_194454.3(KRIT1):c.1201_1204del (p.Gln401fs)	KRIT1 (Q353fs +2 more)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic
Select item 968653	NM_194454.3(KRIT1):c.1107_1109delinsCA (p.Glu369fs)	KRIT1 (E321fs +2 more)	Indel (frameshift variant)	not provided +1 more	GPathogenic
Select item 3379775	NM_194454.3(KRIT1):c.976C>T (p.His326Tyr)	KRIT1 (H326Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3381025	NM_194454.3(KRIT1):c.700_703del (p.Phe234fs)	KRIT1 (F234fs)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic

ClinVar