C2931104[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 303345	NM_145014.3(HYLS1):c.-503G>A	HYLS1	Single nucleotide variant (5 prime UTR variant)	Hydrolethalus syndrome	GUncertain significance
Select item 303352	NM_001134793.2(HYLS1):c.-67_-65dup	HYLS1	Duplication (5 prime UTR variant +1 more)	Hydrolethalus syndrome	GUncertain significance
Select item 303351	NM_001134793.2(HYLS1):c.-66_-65dup	HYLS1	Duplication (5 prime UTR variant +1 more)	Hydrolethalus syndrome	GBenign
Select item 303350	NM_001134793.2(HYLS1):c.-65dup	HYLS1	Duplication (5 prime UTR variant +1 more)	Hydrolethalus syndrome	GUncertain significance
Select item 303354	NM_001134793.2(HYLS1):c.-26+10dup	HYLS1	Duplication (intron variant)	Hydrolethalus syndrome	GUncertain significance
Select item 303355	NM_001134793.2(HYLS1):c.-26+10_-26+11dup	HYLS1	Duplication (intron variant)	Hydrolethalus syndrome	GUncertain significance
Select item 303359	NM_001134793.2(HYLS1):c.-26+10_-26+11insTA	HYLS1	Insertion (intron variant)	Hydrolethalus syndrome	GUncertain significance
Select item 303358	NM_001134793.2(HYLS1):c.-26+11dup	HYLS1	Duplication (intron variant)	Hydrolethalus syndrome	GUncertain significance
Select item 303357	NM_001134793.2(HYLS1):c.-26+10_-26+11insAA	HYLS1	Insertion (intron variant)	Hydrolethalus syndrome	GUncertain significance
Select item 303356	NM_001134793.2(HYLS1):c.-26+10_-26+11insA	HYLS1	Insertion (intron variant)	Hydrolethalus syndrome	GUncertain significance
Select item 303361	NM_001134793.2(HYLS1):c.-26+27_-26+28dup	HYLS1	Duplication (intron variant)	Hydrolethalus syndrome	GBenign
Select item 303360	NM_001134793.2(HYLS1):c.-26+28dup	HYLS1	Duplication (intron variant)	Hydrolethalus syndrome	GUncertain significance
Select item 283923	NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys)	KIF7 (G393C)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +4 more	GConflicting classifications of pathogenicity