"Illumina Laboratory Services, Illumina"[submitter] AND "LOC128706666" - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 337699	NM_001394148.2(LOC128706665):c.*130A>G	LOC128706665, LOC128706666 +1 more (H23R)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 6 +1 more	GConflicting classifications of pathogenicity
Select item 337700	NM_001394148.2(LOC128706665):c.*87A>G	LOC128706665, LOC128706666 +1 more (K9E)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 6 +1 more	GLikely benign
Select item 895667	NM_170784.3(MKKS):c.-384C>T	LOC128706665, LOC128706666 +1 more	Single nucleotide variant (5 prime UTR variant)	Bardet-Biedl syndrome 6 +1 more	GUncertain significance
Select item 895668	NM_170784.3(MKKS):c.-388A>G	LOC128706665, LOC128706666 +1 more	Single nucleotide variant (5 prime UTR variant)	McKusick-Kaufman syndrome +1 more	GUncertain significance
Select item 337701	NM_170784.3(MKKS):c.-406G>C	LOC128706666, MKKS +1 more	Single nucleotide variant (5 prime UTR variant)	Bardet-Biedl syndrome 6 +1 more	GUncertain significance
Select item 337702	NM_170784.3(MKKS):c.-417-13dup	LOC128706665, LOC128706666 +1 more	Duplication (intron variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 337703	NM_170784.3(MKKS):c.-477G>T	LOC128706665, LOC128706666 +1 more (G51*)	Single nucleotide variant (nonsense +2 more)	Bardet-Biedl syndrome 6 +1 more	GUncertain significance
Select item 337704	NM_170784.3(MKKS):c.-481T>A	LOC128706665, LOC128706666 +1 more (S49R)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome 6 +1 more	GUncertain significance
Select item 337705	NM_001394148.2(LOC128706665):c.133C>A (p.Pro45Thr)	LOC128706665, LOC128706666 +1 more (P45T)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome 6 +1 more	GUncertain significance
Select item 337706	NM_001394148.2(LOC128706665):c.132T>G (p.Ile44Met)	LOC128706665, LOC128706666 +1 more (I44M)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome 6 +1 more	GUncertain significance
Select item 337707	NM_001394148.2(LOC128706665):c.71A>G (p.His24Arg)	LOC128706665, LOC128706666 +1 more (H24R)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome 6 +1 more	GUncertain significance
Select item 337708	NM_170784.3(MKKS):c.-562C>T	LOC128706665, LOC128706666 +1 more	Single nucleotide variant (synonymous variant +2 more)	McKusick-Kaufman syndrome +1 more	GUncertain significance
Select item 897557	NM_170784.3(MKKS):c.-618C>T	LOC128706665, LOC128706666 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 6 +1 more	GBenign
Select item 337709	NM_001394148.2(LOC128706665):c.-22+2430T>G	LOC128706665, LOC128706666 +1 more	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 6 +1 more	GLikely benign
Select item 337710	NM_170784.3(MKKS):c.-649+2366C>T	LOC128706665, LOC128706666 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 6 +1 more	GUncertain significance
Select item 337711	NM_170784.3(MKKS):c.-649+2292del	LOC128706665, LOC128706666 +1 more	Deletion (5 prime UTR variant +1 more)	McKusick-Kaufman syndrome +1 more	GUncertain significance
Select item 337712	NM_170784.3(MKKS):c.-649+2238A>T	LOC128706665, LOC128706666 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	McKusick-Kaufman syndrome +1 more	GUncertain significance
Select item 337713	NM_170784.3(MKKS):c.-649+2202_-649+2204dup	LOC128706665, LOC128706666 +1 more	Duplication (5 prime UTR variant +1 more)	McKusick-Kaufman syndrome +1 more	GLikely benign