Related gene-specific medical variations for Gene (Select 11346) - ClinVar

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

Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3323977	NM_007286.6(SYNPO):c.2154C>A (p.Ser718Arg)	LOC129995010, SYNPO (S718R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2885372	NM_007286.6(SYNPO):c.2029-3del	LOC129995010, SYNPO	Deletion (intron variant)	not provided	GBenign
Select item 2873649	NM_007286.6(SYNPO):c.2115G>A (p.Pro705=)	LOC129995010, SYNPO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871325	NM_007286.6(SYNPO):c.2029-11T>C	LOC129995010, SYNPO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2788754	NM_007286.6(SYNPO):c.2177C>T (p.Pro726Leu)	LOC129995010, SYNPO (P726L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2741711	NM_007286.6(SYNPO):c.2394G>A (p.Pro798=)	LOC129995011, SYNPO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2597096	NM_007286.6(SYNPO):c.2056C>G (p.Pro686Ala)	LOC129995010, SYNPO (P686A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592397	NM_007286.6(SYNPO):c.2107G>A (p.Val703Met)	LOC129995010, SYNPO (V703M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2509950	NM_007286.6(SYNPO):c.2062T>C (p.Trp688Arg)	LOC129995010, SYNPO (W688R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462801	NM_007286.6(SYNPO):c.2204G>C (p.Arg735Pro)	LOC129995010, SYNPO (R735P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394798	NM_007286.6(SYNPO):c.2402G>T (p.Arg801Leu)	LOC129995011, SYNPO (R801L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258979	NM_007286.6(SYNPO):c.2057C>A (p.Pro686Gln)	LOC129995010, SYNPO (P686Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245649	NM_007286.6(SYNPO):c.2224C>T (p.Pro742Ser)	LOC129995010, SYNPO (P742S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245584	NM_007286.6(SYNPO):c.2395C>T (p.Pro799Ser)	LOC129995011, SYNPO (P799S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231620	NM_007286.6(SYNPO):c.2062T>A (p.Trp688Arg)	LOC129995010, SYNPO (W688R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212349	NM_007286.6(SYNPO):c.2083C>T (p.Pro695Ser)	LOC129995010, SYNPO (P695S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205132	NM_007286.6(SYNPO):c.2065A>C (p.Thr689Pro)	LOC129995010, SYNPO (T689P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2197020	NM_007286.6(SYNPO):c.2419C>T (p.Pro807Ser)	LOC129995011, SYNPO (P807S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2153330	NM_007286.6(SYNPO):c.2057C>T (p.Pro686Leu)	LOC129995010, SYNPO (P686L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2142121	NM_007286.6(SYNPO):c.2179C>T (p.Pro727Ser)	LOC129995010, SYNPO (P727S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2116540	NM_007286.6(SYNPO):c.2376G>C (p.Pro792=)	LOC129995011, SYNPO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2079316	NM_007286.6(SYNPO):c.2372CCCCGC[9] (p.Pro800_Arg801insProProProProProProProPro)	LOC129995011, SYNPO	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2076965	NM_007286.6(SYNPO):c.2387C>T (p.Pro796Leu)	LOC129995011, SYNPO (P796L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2066492	NM_007286.6(SYNPO):c.2192C>G (p.Ser731Trp)	LOC129995010, SYNPO (S731W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2063314	NM_007286.6(SYNPO):c.2071G>A (p.Gly691Ser)	LOC129995010, SYNPO (G691S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2061103	NM_007286.6(SYNPO):c.2147T>G (p.Met716Arg)	LOC129995010, SYNPO (M716R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2048239	NM_007286.6(SYNPO):c.2372CCCCGC[2] (p.Pro795_Pro800del)	LOC129995011, SYNPO	Microsatellite (inframe_deletion)	not provided	GConflicting classifications of pathogenicity
Select item 2037512	NM_007286.6(SYNPO):c.2372CCCCGC[8] (p.Pro800_Arg801insProProProProProPro)	LOC129995011, SYNPO	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1554668	NM_007286.6(SYNPO):c.2182A>G (p.Met728Val)	LOC129995010, SYNPO (M728V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1511715	NM_007286.6(SYNPO):c.2372CCCCGC[7] (p.Pro797_Pro800dup)	LOC129995011, SYNPO	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1510673	NM_007286.6(SYNPO):c.2380_2381insTGCCCCCGCCCC (p.Pro793_Pro794insLeuProProPro)	LOC129995011, SYNPO	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 1509611	NM_007286.6(SYNPO):c.2372CCCCGC[6] (p.Pro799_Pro800dup)	LOC129995011, SYNPO	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1409210	NM_007286.6(SYNPO):c.2372CCCCGC[4] (p.Pro799_Pro800del)	LOC129995011, SYNPO	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1344832	NM_007286.6(SYNPO):c.1808C>T (p.Pro603Leu)	SYNPO (P603L +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 8	GUncertain significance
Select item 1276592	NM_007286.6(SYNPO):c.2372CCCCGC[3] (p.Pro797_Pro800del)	LOC129995011, SYNPO	Microsatellite (inframe_deletion)	not provided	GConflicting classifications of pathogenicity
Select item 1268840	NM_007286.6(SYNPO):c.2367A>C (p.Pro789=)	LOC129995011, SYNPO	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign

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: 36