ClinVar for MedGen (Select 862731) - ClinVar

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

Result Filters

Links from MedGen

Items: 32

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25849521.	NM_022166.4(XYLT1):c.2267T>G (p.Phe756Cys) GRCh37: Chr16:17211793 GRCh38: Chr16:17117936	XYLT1	F756C	Desbuquois dysplasia 2	Uncertain significance	criteria provided, single submitter
Select item 24386302.	NM_022166.4(XYLT1):c.962T>G (p.Met321Arg) GRCh37: Chr16:17294463 GRCh38: Chr16:17200606	XYLT1	M321R	Desbuquois dysplasia 2	Uncertain significance (Aug 26, 2020)	criteria provided, single submitter
Select item 20537993.	NM_022166.4(XYLT1):c.2768G>A (p.Gly923Asp) GRCh37: Chr16:17202664 GRCh38: Chr16:17108807	XYLT1	G923D	Desbuquois dysplasia 1, Desbuquois dysplasia 2	Uncertain significance (Aug 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12445264.	NM_022166.4(XYLT1):c.2028-37A>C GRCh37: Chr16:17221755 GRCh38: Chr16:17127898	XYLT1		not provided, Desbuquois dysplasia 2	Benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12440655.	NM_022166.4(XYLT1):c.1086+44G>A GRCh37: Chr16:17294295 GRCh38: Chr16:17200438	XYLT1		not provided, Desbuquois dysplasia 2	Benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12243606.	NM_022166.4(XYLT1):c.1651C>T (p.Arg551Cys) GRCh37: Chr16:17232325 GRCh38: Chr16:17138468	LOC102723692, XYLT1	R551C	not provided, Desbuquois dysplasia 2	Pathogenic (Apr 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 11704317.	NM_022166.4(XYLT1):c.1994C>T (p.Thr665Met) GRCh37: Chr16:17228363 GRCh38: Chr16:17134506	XYLT1, LOC102723692	T665M	Desbuquois dysplasia 2, not provided, Desbuquois dysplasia 1	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11703588.	NM_022166.4(XYLT1):c.2224-12C>T GRCh37: Chr16:17211848 GRCh38: Chr16:17117991	XYLT1		Desbuquois dysplasia 2, not provided, Desbuquois dysplasia 1	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11702389.	NM_022166.4(XYLT1):c.1284C>G (p.Pro428=) GRCh37: Chr16:17292074 GRCh38: Chr16:17198217	XYLT1		Desbuquois dysplasia 2, Desbuquois dysplasia 1, not provided	Benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116957310.	NM_022166.4(XYLT1):c.2331T>C (p.Asn777=) GRCh37: Chr16:17211729 GRCh38: Chr16:17117872	XYLT1		Desbuquois dysplasia 1, Desbuquois dysplasia 2, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116957211.	NM_022166.4(XYLT1):c.2515G>A (p.Val839Ile) GRCh37: Chr16:17211545 GRCh38: Chr16:17117688	XYLT1	V839I	not provided, Desbuquois dysplasia 1, Desbuquois dysplasia 2	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116862212.	NM_022166.4(XYLT1):c.668C>G (p.Ala223Gly) GRCh37: Chr16:17353090 GRCh38: Chr16:17259233	XYLT1	A223G	Desbuquois dysplasia 2, not provided, Desbuquois dysplasia 1	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116862113.	NM_022166.4(XYLT1):c.1989C>T (p.Ala663=) GRCh37: Chr16:17228368 GRCh38: Chr16:17134511	XYLT1, LOC102723692		Desbuquois dysplasia 2, not provided, Desbuquois dysplasia 1	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116862014.	NM_022166.4(XYLT1):c.2675G>A (p.Arg892Gln) GRCh37: Chr16:17202757 GRCh38: Chr16:17108900	XYLT1	R892Q	Desbuquois dysplasia 2, not provided, Desbuquois dysplasia 1	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116769215.	NM_022166.4(XYLT1):c.2631C>T (p.Pro877=) GRCh37: Chr16:17202801 GRCh38: Chr16:17108944	XYLT1		Desbuquois dysplasia 2, not provided, Desbuquois dysplasia 1	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116661416.	NM_022166.4(XYLT1):c.913+9C>T GRCh37: Chr16:17352836 GRCh38: Chr16:17258979	XYLT1		Desbuquois dysplasia 1, Desbuquois dysplasia 2, not provided	Benign (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116490517.	NM_022166.4(XYLT1):c.1077C>T (p.His359=) GRCh37: Chr16:17294348 GRCh38: Chr16:17200491	XYLT1		not provided, Desbuquois dysplasia 2, Desbuquois dysplasia 1	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80801418.	NM_022166.4(XYLT1):c.1216C>T (p.Arg406Trp) GRCh37: Chr16:17292142 GRCh38: Chr16:17198285	XYLT1	R406W	Desbuquois dysplasia 1, Desbuquois dysplasia 2, not provided	Uncertain significance (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 68436219.	NM_022166.4(XYLT1):c.2655C>T (p.Pro885=) GRCh37: Chr16:17202777 GRCh38: Chr16:17108920	XYLT1		Desbuquois dysplasia 1, Desbuquois dysplasia 2, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 61918420.	NM_022166.4(XYLT1):c.1290-1G>A GRCh37: Chr16:17252767 GRCh38: Chr16:17158910	XYLT1		Desbuquois dysplasia 2	Pathogenic (Feb 28, 2019)	no assertion criteria provided
Select item 61918321.	NM_022166.4(XYLT1):c.281_306del (p.Gln94fs) GRCh37: Chr16:17564348-17564373 GRCh38: Chr16:17470491-17470516	XYLT1	Q94fs	Desbuquois dysplasia 2	Pathogenic (Feb 28, 2019)	no assertion criteria provided
Select item 61918222.	NW_019805500.1:g.472169CCG[(100-833)] GRCh38: Chr16:472169	XYLT1		Desbuquois dysplasia 2	Pathogenic (Nov 7, 2019)	no assertion criteria provided
Select item 61918123.	NM_022166.4(XYLT1):c.319G>T (p.Gly107Ter) GRCh37: Chr16:17564335 GRCh38: Chr16:17470478	XYLT1	G107*	Desbuquois dysplasia 2	Pathogenic (Feb 28, 2019)	no assertion criteria provided
Select item 57322724.	NM_022166.4(XYLT1):c.1756C>T (p.Arg586Cys) GRCh37: Chr16:17232220 GRCh38: Chr16:17138363	LOC102723692, XYLT1	R586C	Desbuquois dysplasia 1, Pseudoxanthoma elasticum, Desbuquois dysplasia 2	Uncertain significance (Oct 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42631925.	NM_022166.4(XYLT1):c.1730_1733dup (p.Asp578delinsGluTer) GRCh37: Chr16:17232242-17232243 GRCh38: Chr16:17138385-17138386	LOC102723692, XYLT1		not provided	Pathogenic (Apr 20, 2017)	criteria provided, single submitter
Select item 12723926.	NM_022166.4(XYLT1):c.1290-2A>C GRCh37: Chr16:17252768 GRCh38: Chr16:17158911	XYLT1		Desbuquois dysplasia 2	Pathogenic (Mar 6, 2014)	no assertion criteria provided
Select item 12723827.	NM_022166.4(XYLT1):c.1588-3C>T GRCh37: Chr16:17232391 GRCh38: Chr16:17138534	LOC102723692, XYLT1		Desbuquois dysplasia 2, Pseudoxanthoma elasticum, not provided, Desbuquois dysplasia 1	Likely benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12723728.	NM_022166.4(XYLT1):c.276dup (p.Pro93fs) GRCh37: Chr16:17564377-17564378 GRCh38: Chr16:17470520-17470521	XYLT1	P93fs	Desbuquois dysplasia 2	Pathogenic (Mar 6, 2014)	no assertion criteria provided
Select item 12723629.	NM_022166.4(XYLT1):c.439C>T (p.Arg147Ter) GRCh37: Chr16:17353319 GRCh38: Chr16:17259462	XYLT1, LOC130058566	R147*	Desbuquois dysplasia 2	Pathogenic (Mar 6, 2014)	no assertion criteria provided
Select item 12723530.	NM_022166.4(XYLT1):c.1792C>T (p.Arg598Cys) GRCh37: Chr16:17228565 GRCh38: Chr16:17134708	XYLT1, LOC102723692	R598C	Desbuquois dysplasia 1	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 12723431.	NM_022166.4(XYLT1):c.1441C>T (p.Arg481Trp) GRCh37: Chr16:17235156 GRCh38: Chr16:17141299	XYLT1	R481W	Desbuquois dysplasia 2	Pathogenic (Jan 1, 2014)	no assertion criteria provided
Select item 253432.	NM_022166.4(XYLT1):c.343G>T (p.Ala115Ser) GRCh37: Chr16:17564311 GRCh38: Chr16:17470454	XYLT1	A115S	Desbuquois dysplasia 2, not provided, Desbuquois dysplasia 1	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts

ClinVar

Result Filters

Clinical significance

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 32