"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "WDR62"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 290415	NM_001083961.2(WDR62):c.82C>T (p.Arg28Trp)	WDR62 (R28W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 328905	NM_001083961.2(WDR62):c.253G>A (p.Val85Met)	WDR62 (V85M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1328620	NM_001083961.2(WDR62):c.979T>C (p.Tyr327His)	WDR62 (Y327H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 167848	NM_001083961.2(WDR62):c.1228G>T (p.Val410Leu)	WDR62 (V410L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 160249	NM_001083961.2(WDR62):c.1480G>A (p.Gly494Arg)	WDR62 (G494R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2683493	NM_001083961.2(WDR62):c.1516C>T (p.His506Tyr)	WDR62 (H389Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 41	NM_001083961.2(WDR62):c.1576G>A (p.Glu526Lys)	WDR62 (E526K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1693743	NM_001083961.2(WDR62):c.1701GAA[1] (p.Lys568del)	WDR62 (K568del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1163626	NM_001083961.2(WDR62):c.2315A>G (p.Lys772Arg)	WDR62 (K772R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163627	NM_001083961.2(WDR62):c.2335C>G (p.Gln779Glu)	WDR62 (Q779E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1163628	NM_001083961.2(WDR62):c.2396_2397del (p.Glu799fs)	WDR62 (E799fs)	Microsatellite (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 3380607	NM_001083961.2(WDR62):c.2764C>T (p.Arg922Cys)	WDR62 (R805C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 195804	NM_001083961.2(WDR62):c.2887G>A (p.Val963Met)	WDR62 (V963M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 328920	NM_001083961.2(WDR62):c.2972A>T (p.Asp991Val)	WDR62 (D991V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2683494	NM_001083961.2(WDR62):c.3088G>A (p.Ala1030Thr)	WDR62 (A1025T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2683495	NM_001083961.2(WDR62):c.3761C>G (p.Ser1254Cys)	WDR62 (S1137C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 891139	NM_001083961.2(WDR62):c.3857G>A (p.Arg1286His)	WDR62 (R1281H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 632061	NM_001083961.2(WDR62):c.3878C>A (p.Ala1293Asp)	WDR62 (A1293D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 328930	NM_001083961.2(WDR62):c.4144C>T (p.Pro1382Ser)	WDR62 (P1382S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1305228	NM_001083961.2(WDR62):c.4499A>G (p.Asp1500Gly)	WDR62 (D1495G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 287119	NM_001083961.2(WDR62):c.4549C>T (p.Arg1517Trp)	WDR62 (R1517W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance

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Items: 21