C3178805[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 295977	NM_003240.4(LEFTY2):c.-222C>A	LEFTY2	Single nucleotide variant	Visceral heterotaxy	GUncertain significance
Select item 295978	NM_003240.4(LEFTY2):c.-225C>T	LEFTY2	Single nucleotide variant	Visceral heterotaxy	GUncertain significance
Select item 344922	NM_001106.4(ACVR2B):c.*48del	ACVR2B	Deletion (3 prime UTR variant)	Visceral heterotaxy	GLikely benign
Select item 344928	NM_001106.4(ACVR2B):c.*342TTGT[1]	ACVR2B	Microsatellite (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 344943	NM_001106.4(ACVR2B):c.1346_1347del	ACVR2B	Deletion (3 prime UTR variant)	Visceral heterotaxy	GBenign
Select item 344948	NM_001106.4(ACVR2B):c.1574_1579del	ACVR2B	Deletion (3 prime UTR variant)	Visceral heterotaxy	GUncertain significance
Select item 344961	NM_001106.4(ACVR2B):c.2332_2334del	ACVR2B	Deletion (3 prime UTR variant)	Visceral heterotaxy	GUncertain significance
Select item 344963	NM_001106.4(ACVR2B):c.2360_2361dup	ACVR2B	Duplication (3 prime UTR variant)	Visceral heterotaxy	GUncertain significance
Select item 344962	NM_001106.4(ACVR2B):c.*2361dup	ACVR2B	Duplication (3 prime UTR variant)	Visceral heterotaxy	GUncertain significance
Select item 344964	NM_001106.4(ACVR2B):c.2359_2361del	ACVR2B	Deletion (3 prime UTR variant)	Visceral heterotaxy	GUncertain significance
Select item 344965	NM_001106.4(ACVR2B):c.2362_2364del	ACVR2B	Deletion (3 prime UTR variant)	Visceral heterotaxy	GUncertain significance
Select item 344966	NM_001106.4(ACVR2B):c.2364_2365insC	ACVR2B	Insertion (3 prime UTR variant)	Visceral heterotaxy	GUncertain significance
Select item 344971	NM_001106.4(ACVR2B):c.*2841dup	ACVR2B	Duplication (3 prime UTR variant)	Visceral heterotaxy	GUncertain significance
Select item 344985	NM_001106.4(ACVR2B):c.*4061dup	ACVR2B	Duplication (3 prime UTR variant)	Visceral heterotaxy	GLikely benign
Select item 344999	NM_001106.4(ACVR2B):c.*5201T>C	ACVR2B	Single nucleotide variant (3 prime UTR variant)	Visceral heterotaxy	GUncertain significance
Select item 345006	NM_001106.4(ACVR2B):c.*5968CA[1]	ACVR2B	Microsatellite (3 prime UTR variant)	Visceral heterotaxy	GUncertain significance
Select item 345026	NM_001106.4(ACVR2B):c.*7719del	ACVR2B	Deletion (3 prime UTR variant)	Visceral heterotaxy	GLikely benign
Select item 345030	NM_001106.4(ACVR2B):c.*8334del	ACVR2B	Deletion (3 prime UTR variant)	Visceral heterotaxy	GUncertain significance
Select item 345034	NM_001106.4(ACVR2B):c.*8675dup	ACVR2B	Duplication (3 prime UTR variant)	Visceral heterotaxy	GUncertain significance
Select item 345044	NM_001106.4(ACVR2B):c.9317_9318dup	ACVR2B	Duplication (3 prime UTR variant)	Visceral heterotaxy	GUncertain significance
Select item 345043	NM_001106.4(ACVR2B):c.*9318dup	ACVR2B	Duplication (3 prime UTR variant)	Visceral heterotaxy	GBenign
Select item 345047	NM_001106.4(ACVR2B):c.9317_9318insTAT	ACVR2B	Insertion (3 prime UTR variant)	Visceral heterotaxy	GUncertain significance
Select item 345046	NM_001106.4(ACVR2B):c.9317_9318insT	ACVR2B	Insertion (3 prime UTR variant)	Visceral heterotaxy	GUncertain significance
Select item 345045	NM_001106.4(ACVR2B):c.*9319TA[8]	ACVR2B	Microsatellite (3 prime UTR variant)	Visceral heterotaxy	GUncertain significance
Select item 345050	NM_001106.4(ACVR2B):c.9398_9399insATTA	ACVR2B	Insertion (3 prime UTR variant)	Visceral heterotaxy	GUncertain significance
Select item 345052	NM_001106.4(ACVR2B):c.9399_9437delinsATT	ACVR2B	Indel (3 prime UTR variant)	Visceral heterotaxy	GUncertain significance
Select item 345051	NM_001106.4(ACVR2B):c.9399_9435delinsATT	ACVR2B	Indel (3 prime UTR variant)	Visceral heterotaxy	GUncertain significance
Select item 345054	NM_001106.4(ACVR2B):c.9443_9469delinsT	ACVR2B	Indel (3 prime UTR variant)	Visceral heterotaxy	GUncertain significance
Select item 300287	NM_018055.5(NODAL):c.*747dup	NODAL	Duplication (3 prime UTR variant)	Holoprosencephaly sequence +1 more	GUncertain significance

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Items: 29