LOC128706665[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	MCM8, MCM8-AS1 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC111365169, LOC111365189 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	MIR6869, MIR6870 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	LOC130065416, LOC130065417 +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	LOC126862999, LOC126863005 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	ADAM33, ADISSP +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 more	Copy number gain	See cases	GPathogenic
Select item 145966	GRCh38/hg38 20p12.3-12.1(chr20:6617695-13392559)x1	ANKEF1, BMP2 +109 more	Copy number loss	See cases	GPathogenic
Select item 58946	GRCh38/hg38 20p12.3-12.2(chr20:7566644-11028694)x1	ANKEF1, HAO1 +71 more	Copy number loss	See cases	GPathogenic
Select item 148981	GRCh38/hg38 20p12.2-12.1(chr20:9290612-14648536)x3	LOC130065426, LOC130065427 +87 more	Copy number gain	See cases	GUncertain significance
Select item 146031	GRCh38/hg38 20p12.2-12.1(chr20:9550975-12083434)x1	ANKEF1, BTBD3 +55 more	Copy number loss	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
Select item 652394	NC_000020.11:g.(?_10253609)_(10673550_?)del	LOC128706666, LOC130065416 +23 more	Deletion	Alagille syndrome due to a JAG1 point mutation	GPathogenic
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
Select item 21667	NM_001394148.2(LOC128706665):c.-56_-47dup	LOC128706665, LOC128706666 +1 more	Duplication (5 prime UTR variant +1 more)	Bardet-Biedl syndrome	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 34