Related gene-specific medical variations for Gene (Select 5076) - ClinVar

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

Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362433	NM_000278.5(PAX2):c.238C>G (p.Pro80Ala)	PAX2 (P111A +1 more)	Single nucleotide variant (missense variant)	Renal coloboma syndrome	GUncertain significance
Select item 3361073	NM_000278.5(PAX2):c.889T>G (p.Ser297Ala)	PAX2 (S297A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360969	NM_000278.5(PAX2):c.937_938del (p.Thr313fs)	PAX2 (T313fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3244844	NC_000010.10:g.(?_102566167)_(102566382_?)dup	PAX2	Duplication	Renal coloboma syndrome +1 more	GLikely pathogenic
Select item 3236800	NM_000278.5(PAX2):c.616+5649A>C	LOC110120845, PAX2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 7	GUncertain significance
Select item 3068134	NM_000278.5(PAX2):c.389C>G (p.Pro130Arg)	PAX2 (P130R +1 more)	Single nucleotide variant (missense variant)	Renal coloboma syndrome	GLikely pathogenic
Select item 3064859	NM_000278.5(PAX2):c.495del (p.Ile165fs)	PAX2 (I165fs +1 more)	Deletion (frameshift variant)	Renal coloboma syndrome	GLikely pathogenic
Select item 3064194	NM_000278.5(PAX2):c.1109-2A>G	PAX2	Single nucleotide variant (splice acceptor variant +1 more)	Renal coloboma syndrome	GLikely pathogenic
Select item 3032426	NM_000278.5(PAX2):c.616+5568T>C	LOC110120845, PAX2	Single nucleotide variant (intron variant)	PAX2-related disorder	GLikely benign
Select item 2683957	NM_000278.5(PAX2):c.212G>T (p.Arg71Met)	PAX2 (R102M +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7	GLikely pathogenic
Select item 1344674	NM_000278.5(PAX2):c.275C>T (p.Thr92Met)	PAX2 (T123M +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +1 more	GLikely pathogenic
Select item 1344673	NM_000278.5(PAX2):c.254G>T (p.Gly85Val)	PAX2 (G116V +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +1 more	GLikely pathogenic
Select item 1323415	NM_000278.5(PAX2):c.34_43+26delinsTGT	PAX2	Indel (splice donor variant)	not provided	GPathogenic
Select item 865942	NM_000278.5(PAX2):c.1021+232del	PAX2 (T368fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 562441	NM_000278.5(PAX2):c.265A>T (p.Lys89Ter)	PAX2 (K89* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 562423	NM_000278.5(PAX2):c.433C>T (p.Gln145Ter)	PAX2 (Q145* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 562404	NM_000278.5(PAX2):c.220G>T (p.Glu74Ter)	PAX2 (E74* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 562362	NM_000278.5(PAX2):c.113G>A (p.Arg38Lys)	PAX2 (R38K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 419700	NM_000278.5(PAX2):c.616+5648T>C	LOC110120845, PAX2	Single nucleotide variant (intron variant +1 more)	Renal coloboma syndrome +2 more	GPathogenic/Likely pathogenic
Select item 235286	NM_000278.5(PAX2):c.43+5G>T	PAX2	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 156299	NM_000278.5(PAX2):c.832del (p.Asp278fs)	PAX2 (D278fs +2 more)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 156295	NM_000278.5(PAX2):c.68del (p.Leu23fs)	PAX2 (L23fs +1 more)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 156293	NM_000278.5(PAX2):c.59del (p.Val20fs)	PAX2 (V51fs +1 more)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 156292	NM_000278.3(PAX2):c.44_46delCAG	PAX2	Microsatellite (genic downstream transcript variant)	not provided	Gnot provided
Select item 156290	NM_000278.5(PAX2):c.115_120del (p.Gln39_Arg40del)	PAX2	Deletion (inframe_deletion)	not provided	Gnot provided
Select item 13798	PAX2, 6-BP DEL	PAX2	Deletion	Renal coloboma syndrome	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 26