CN239236[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 337172	NM_000821.7(GGCX):c.*4995dup	GGCX, MAT2A	Duplication (3 prime UTR variant)	Vitamin K-Dependent Clotting Factors	GUncertain significance
Select item 337171	NM_000821.7(GGCX):c.*4996del	GGCX, MAT2A	Deletion (3 prime UTR variant)	Vitamin K-Dependent Clotting Factors	GUncertain significance
Select item 337178	NM_000821.7(GGCX):c.*4538A>G	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-Dependent Clotting Factors	GUncertain significance
Select item 337189	NM_000821.7(GGCX):c.*3821dup	GGCX	Duplication (3 prime UTR variant)	Vitamin K-Dependent Clotting Factors	GUncertain significance
Select item 337195	NM_000821.7(GGCX):c.*3644G>C	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-Dependent Clotting Factors	GUncertain significance
Select item 337198	NM_000821.7(GGCX):c.3516_3517dup	GGCX	Duplication (3 prime UTR variant)	Vitamin K-Dependent Clotting Factors	GUncertain significance
Select item 337200	NM_000821.7(GGCX):c.*3447del	GGCX	Deletion (3 prime UTR variant)	Vitamin K-Dependent Clotting Factors	GLikely benign
Select item 337203	NM_000821.7(GGCX):c.3401_3402dup	GGCX	Duplication (3 prime UTR variant)	Vitamin K-Dependent Clotting Factors	GBenign
Select item 337205	NM_000821.7(GGCX):c.3370_3372del	GGCX	Deletion (3 prime UTR variant)	Vitamin K-Dependent Clotting Factors	GLikely benign
Select item 337212	NM_000821.7(GGCX):c.*2889ACA[1]	GGCX	Microsatellite (3 prime UTR variant)	Vitamin K-Dependent Clotting Factors	GUncertain significance
Select item 337226	NM_000821.7(GGCX):c.*1736dup	GGCX	Duplication (3 prime UTR variant)	Vitamin K-Dependent Clotting Factors	GUncertain significance
Select item 337235	NM_000821.7(GGCX):c.898_900del	GGCX	Deletion (3 prime UTR variant)	Vitamin K-Dependent Clotting Factors	GUncertain significance
Select item 337237	NM_000821.7(GGCX):c.*839TTAA[1]	GGCX	Microsatellite (3 prime UTR variant)	Vitamin K-Dependent Clotting Factors	GUncertain significance
Select item 337239	NM_000821.7(GGCX):c.745_749del	GGCX	Deletion (3 prime UTR variant)	Vitamin K-Dependent Clotting Factors	GUncertain significance
Select item 337243	NM_000821.7(GGCX):c.*555TAAA[4]	GGCX	Microsatellite (3 prime UTR variant)	Vitamin K-Dependent Clotting Factors	GBenign
Select item 337247	NM_000821.7(GGCX):c.421_422dup	GGCX	Duplication (3 prime UTR variant)	Vitamin K-Dependent Clotting Factors	GUncertain significance
Select item 337258	NM_000821.7(GGCX):c.2084+12del	GGCX	Deletion (intron variant)	Vitamin K-Dependent Clotting Factors +1 more	GConflicting classifications of pathogenicity
Select item 337261	NM_000821.7(GGCX):c.1889-17_1889-16del	GGCX	Deletion (intron variant)	Vitamin K-Dependent Clotting Factors +1 more	GBenign/Likely benign
Select item 337272	NM_000821.7(GGCX):c.539+10del	GGCX	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 337285	NM_000821.6(GGCX):c.-70G>A	GGCX, LOC129934217	Single nucleotide variant	Vitamin K-Dependent Clotting Factors	GUncertain significance
Select item 369110	NM_001039503.3(PRSS53):c.100G>A (p.Gly34Ser)	PRSS53, VKORC1 (G34S)	Single nucleotide variant (missense variant)	Vitamin K-Dependent Clotting Factors	GBenign
Select item 318974	NM_024006.6(VKORC1):c.*145T>C	VKORC1	Single nucleotide variant (3 prime UTR variant)	Vitamin K-Dependent Clotting Factors	GUncertain significance
Select item 37344	NM_024006.6(VKORC1):c.174-136C>T	VKORC1	Single nucleotide variant (intron variant)	warfarin response - Dosage +2 more	Gdrug response
Select item 318978	NM_024006.5(VKORC1):c.-160G>C	VKORC1	Single nucleotide variant	Vitamin K-Dependent Clotting Factors	GUncertain significance

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Items: 24