ADCK5[gene] and "single gene"[properties] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2624248	NM_174922.5(ADCK5):c.46C>A (p.His16Asn)	ADCK5 (H16N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081013	NM_174922.5(ADCK5):c.94A>T (p.Asn32Tyr)	ADCK5 (N32Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397489	NM_174922.5(ADCK5):c.131C>A (p.Thr44Lys)	ADCK5 (T44K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080983	NM_174922.5(ADCK5):c.158C>T (p.Thr53Ile)	ADCK5 (T53I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080992	NM_174922.5(ADCK5):c.235C>T (p.Leu79Phe)	ADCK5 (L79F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080994	NM_174922.5(ADCK5):c.350C>T (p.Pro117Leu)	ADCK5 (P117L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081000	NM_174922.5(ADCK5):c.353G>C (p.Gly118Ala)	ADCK5 (G118A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260015	NM_174922.5(ADCK5):c.491C>T (p.Thr164Ile)	ADCK5 (T164I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2549586	NM_174922.5(ADCK5):c.718G>A (p.Gly240Arg)	ADCK5 (G240R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333146	NM_174922.5(ADCK5):c.869G>A (p.Arg290Gln)	ADCK5 (R290Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2339224	NM_174922.5(ADCK5):c.988A>G (p.Arg330Gly)	ADCK5 (R330G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216074	NM_174922.5(ADCK5):c.992G>A (p.Ser331Asn)	ADCK5 (S331N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081024	NM_174922.5(ADCK5):c.998G>A (p.Gly333Glu)	ADCK5 (G333E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249033	NM_174922.5(ADCK5):c.1016T>C (p.Ile339Thr)	ADCK5 (I339T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538721	NM_174922.5(ADCK5):c.1108A>C (p.Lys370Gln)	ADCK5 (K370Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519792	NM_174922.5(ADCK5):c.1115C>T (p.Pro372Leu)	ADCK5 (P372L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459603	NM_174922.5(ADCK5):c.1171G>A (p.Glu391Lys)	ADCK5 (E391K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285205	NM_174922.5(ADCK5):c.1190T>A (p.Leu397His)	ADCK5 (L397H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404220	NM_174922.5(ADCK5):c.1226A>C (p.Asp409Ala)	ADCK5 (D409A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491539	NM_174922.5(ADCK5):c.1236G>A (p.Met412Ile)	ADCK5 (M412I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337309	NM_174922.5(ADCK5):c.1261G>T (p.Val421Leu)	ADCK5 (V421L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478320	NM_174922.5(ADCK5):c.1296G>A (p.Met432Ile)	ADCK5 (M432I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268630	NM_174922.5(ADCK5):c.1397T>C (p.Val466Ala)	ADCK5 (V466A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080967	NM_174922.5(ADCK5):c.1438G>C (p.Val480Leu)	ADCK5 (V480L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080972	NM_174922.5(ADCK5):c.1474G>A (p.Val492Met)	ADCK5 (V492M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316515	NM_174922.5(ADCK5):c.1510A>G (p.Met504Val)	ADCK5 (M504V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256289	NM_174922.5(ADCK5):c.1573G>A (p.Gly525Ser)	ADCK5 (G525S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080985	NM_174922.5(ADCK5):c.1594G>A (p.Ala532Thr)	ADCK5 (A532T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080987	NM_174922.5(ADCK5):c.1638G>A (p.Arg546=)	ADCK5	Single nucleotide variant (synonymous variant)	not specified	GLikely benign

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Items: 29