ClinVar for MedGen (Select 862731) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3339666	NM_022166.4(XYLT1):c.1108C>T (p.Gln370Ter)	XYLT1 (Q370*)	Single nucleotide variant (nonsense)	Desbuquois dysplasia 2	GPathogenic
Select item 3237504	NM_022166.4(XYLT1):c.578del (p.Leu192_Leu193insTer)	LOC130058566, XYLT1	Deletion (nonsense)	Desbuquois dysplasia 2	GLikely pathogenic
Select item 2584952	NM_022166.4(XYLT1):c.2267T>G (p.Phe756Cys)	XYLT1 (F756C)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 2	GUncertain significance
Select item 2438630	NM_022166.4(XYLT1):c.962T>G (p.Met321Arg)	XYLT1 (M321R)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 2	GUncertain significance
Select item 2053799	NM_022166.4(XYLT1):c.2768G>A (p.Gly923Asp)	XYLT1 (G923D)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1 +2 more	GConflicting classifications of pathogenicity
Select item 1244526	NM_022166.4(XYLT1):c.2028-37A>C	XYLT1	Single nucleotide variant (intron variant)	Desbuquois dysplasia 2 +1 more	GBenign
Select item 1244065	NM_022166.4(XYLT1):c.1086+44G>A	XYLT1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1224360	NM_022166.4(XYLT1):c.1651C>T (p.Arg551Cys)	LOC102723692, XYLT1 (R551C)	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 2 +1 more	GPathogenic
Select item 1170431	NM_022166.4(XYLT1):c.1994C>T (p.Thr665Met)	LOC102723692, XYLT1 (T665M)	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1 +2 more	GBenign
Select item 1170358	NM_022166.4(XYLT1):c.2224-12C>T	XYLT1	Single nucleotide variant (intron variant)	Desbuquois dysplasia 2 +2 more	GBenign
Select item 1170238	NM_022166.4(XYLT1):c.1284C>G (p.Pro428=)	XYLT1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1169573	NM_022166.4(XYLT1):c.2331T>C (p.Asn777=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1 +2 more	GBenign
Select item 1169572	NM_022166.4(XYLT1):c.2515G>A (p.Val839Ile)	XYLT1 (V839I)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1 +2 more	GBenign
Select item 1168622	NM_022166.4(XYLT1):c.668C>G (p.Ala223Gly)	XYLT1 (A223G)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1 +2 more	GBenign
Select item 1168621	NM_022166.4(XYLT1):c.1989C>T (p.Ala663=)	LOC102723692, XYLT1	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1 +2 more	GBenign
Select item 1168620	NM_022166.4(XYLT1):c.2675G>A (p.Arg892Gln)	XYLT1 (R892Q)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1 +2 more	GBenign
Select item 1167692	NM_022166.4(XYLT1):c.2631C>T (p.Pro877=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1 +2 more	GBenign
Select item 1166614	NM_022166.4(XYLT1):c.913+9C>T	XYLT1	Single nucleotide variant (intron variant)	Desbuquois dysplasia 1 +2 more	GBenign
Select item 1164905	NM_022166.4(XYLT1):c.1077C>T (p.His359=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1 +2 more	GBenign/Likely benign
Select item 808014	NM_022166.4(XYLT1):c.1216C>T (p.Arg406Trp)	XYLT1 (R406W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 684362	NM_022166.4(XYLT1):c.2655C>T (p.Pro885=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 2 +2 more	GBenign
Select item 619184	NM_022166.4(XYLT1):c.1290-1G>A	XYLT1	Single nucleotide variant (splice acceptor variant)	Desbuquois dysplasia 2	GPathogenic
Select item 619183	NM_022166.4(XYLT1):c.281_306del (p.Gln94fs)	XYLT1 (Q94fs)	Deletion (frameshift variant)	Desbuquois dysplasia 2	GPathogenic
Select item 619182	NW_019805500.1:g.472169CCG[(100-833)]	XYLT1	Microsatellite	Desbuquois dysplasia 2	GPathogenic
Select item 619181	NM_022166.4(XYLT1):c.319G>T (p.Gly107Ter)	XYLT1 (G107*)	Single nucleotide variant (nonsense)	Desbuquois dysplasia 2	GPathogenic
Select item 573227	NM_022166.4(XYLT1):c.1756C>T (p.Arg586Cys)	LOC102723692, XYLT1 (R586C)	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1 +2 more	GUncertain significance
Select item 426319	NM_022166.4(XYLT1):c.1730_1733dup (p.Asp578delinsGluTer)	LOC102723692, XYLT1	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 127239	NM_022166.4(XYLT1):c.1290-2A>C	XYLT1	Single nucleotide variant (splice acceptor variant)	Desbuquois dysplasia 2	GPathogenic
Select item 127238	NM_022166.4(XYLT1):c.1588-3C>T	XYLT1, LOC102723692	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GLikely benign
Select item 127237	NM_022166.4(XYLT1):c.276dup (p.Pro93fs)	XYLT1 (P93fs)	Duplication (frameshift variant)	Desbuquois dysplasia 2	GPathogenic
Select item 127236	NM_022166.4(XYLT1):c.439C>T (p.Arg147Ter)	XYLT1, LOC130058566 (R147*)	Single nucleotide variant (nonsense)	Desbuquois dysplasia 1	GPathogenic
Select item 127235	NM_022166.4(XYLT1):c.1792C>T (p.Arg598Cys)	LOC102723692, XYLT1 (R598C)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 127234	NM_022166.4(XYLT1):c.1441C>T (p.Arg481Trp)	XYLT1 (R481W)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 2	GPathogenic
Select item 2534	NM_022166.4(XYLT1):c.343G>T (p.Ala115Ser)	XYLT1 (A115S)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 2 +2 more	GBenign

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Links from MedGen

Items: 34