Related gene-specific medical variations for Gene (Select 134430) - ClinVar - NCBI

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

Links from Gene

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3190002	NM_139281.3(WDR36):c.88G>T (p.Val30Leu)	LOC129994346, WDR36 (V30L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190000	NM_139281.3(WDR36):c.76G>A (p.Asp26Asn)	LOC129994346, WDR36 (D26N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621869	NM_139281.3(WDR36):c.154A>G (p.Thr52Ala)	LOC129994346, WDR36 (T52A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595311	NM_139281.3(WDR36):c.7C>T (p.Arg3Trp)	LOC129994346, WDR36 (R3W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551721	NM_139281.3(WDR36):c.158A>T (p.Tyr53Phe)	LOC129994346, WDR36 (Y53F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355089	NM_139281.3(WDR36):c.55G>C (p.Ala19Pro)	LOC129994346, WDR36 (A19P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355088	NM_139281.3(WDR36):c.53G>T (p.Arg18Leu)	LOC129994346, WDR36 (R18L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352163	NM_139281.3(WDR36):c.26C>A (p.Thr9Lys)	LOC129994346, WDR36 (T9K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2201679	NM_139281.3(WDR36):c.115C>G (p.Arg39Gly)	LOC129994346, WDR36 (R39G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2055749	NM_139281.3(WDR36):c.-62A>C	LOC129994346, WDR36	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1433828	NM_139281.3(WDR36):c.155C>T (p.Thr52Ile)	LOC129994346, WDR36 (T52I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1426930	NM_139281.3(WDR36):c.-78C>A	LOC129994346, WDR36	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 623421	NM_139281.3(WDR36):c.111G>T (p.Lys37Asn)	LOC129994346, WDR36 (K93N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 350297	NM_139281.3(WDR36):c.-95T>C	LOC129994346, WDR36	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 262467	NM_139281.3(WDR36):c.-70C>G	LOC129994346, WDR36 (D33E)	Single nucleotide variant (5 prime UTR variant)	Primary open angle glaucoma +2 more	GConflicting classifications of pathogenicity