HIPK3[gene] and "single gene"[properties] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2276201	NM_005734.5(HIPK3):c.128C>T (p.Thr43Ile)	HIPK3 (T43I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300031	NM_005734.5(HIPK3):c.172A>G (p.Lys58Glu)	HIPK3 (K58E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228849	NM_005734.5(HIPK3):c.211C>T (p.Pro71Ser)	HIPK3 (P71S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250298	NM_005734.5(HIPK3):c.215G>A (p.Arg72Gln)	HIPK3 (R72Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623079	NM_005734.5(HIPK3):c.283A>G (p.Ile95Val)	HIPK3 (I95V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235587	NM_005734.5(HIPK3):c.332C>T (p.Ala111Val)	HIPK3 (A111V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105958	NM_005734.5(HIPK3):c.338G>A (p.Arg113Gln)	HIPK3 (R113Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553768	NM_005734.5(HIPK3):c.371G>A (p.Arg124Gln)	HIPK3 (R124Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400018	NM_005734.5(HIPK3):c.767A>G (p.Tyr256Cys)	HIPK3 (Y256C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105959	NM_005734.5(HIPK3):c.944G>C (p.Ser315Thr)	HIPK3 (S315T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284335	NM_005734.5(HIPK3):c.988T>G (p.Leu330Val)	HIPK3 (L330V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342581	NM_005734.5(HIPK3):c.1003C>T (p.Arg335Trp)	HIPK3 (R335W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624269	NM_005734.5(HIPK3):c.1084T>C (p.Ser362Pro)	HIPK3 (S362P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321447	NM_005734.5(HIPK3):c.1285T>A (p.Ser429Thr)	HIPK3 (S429T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105946	NM_005734.5(HIPK3):c.1419T>G (p.Asp473Glu)	HIPK3 (D473E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785343	NM_005734.5(HIPK3):c.1420G>A (p.Val474Ile)	HIPK3 (V474I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3284331	NM_005734.5(HIPK3):c.1441A>G (p.Met481Val)	HIPK3 (M481V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560927	NM_005734.5(HIPK3):c.1466T>C (p.Leu489Ser)	HIPK3 (L489S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598596	NM_005734.5(HIPK3):c.1556C>T (p.Thr519Ile)	HIPK3 (T519I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604420	NM_005734.5(HIPK3):c.1580T>C (p.Met527Thr)	HIPK3 (M527T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527032	NM_005734.5(HIPK3):c.1696C>T (p.Leu566Phe)	HIPK3 (L566F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488736	NM_005734.5(HIPK3):c.1736C>T (p.Thr579Ile)	HIPK3 (T579I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105947	NM_005734.5(HIPK3):c.1756G>A (p.Gly586Arg)	HIPK3 (G586R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105948	NM_005734.5(HIPK3):c.1928G>A (p.Ser643Asn)	HIPK3 (S643N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255848	NM_005734.5(HIPK3):c.1938A>G (p.Ile646Met)	HIPK3 (I646M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239282	NM_005734.5(HIPK3):c.1939A>T (p.Arg647Trp)	HIPK3 (R647W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412309	NM_005734.5(HIPK3):c.2074C>T (p.Pro692Ser)	HIPK3 (P692S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284334	NM_005734.5(HIPK3):c.2125C>T (p.His709Tyr)	HIPK3 (H709Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328253	NM_005734.5(HIPK3):c.2137G>A (p.Asp713Asn)	HIPK3 (D713N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381883	NM_005734.5(HIPK3):c.2186C>T (p.Pro729Leu)	HIPK3 (P729L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384854	NM_005734.5(HIPK3):c.2217A>T (p.Leu739Phe)	HIPK3 (L739F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526620	NM_005734.5(HIPK3):c.2229G>T (p.Gln743His)	HIPK3 (Q743H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105951	NM_005734.5(HIPK3):c.2300A>T (p.Gln767Leu)	HIPK3 (Q767L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105952	NM_005734.5(HIPK3):c.2336A>T (p.Glu779Val)	HIPK3 (E779V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105953	NM_005734.5(HIPK3):c.2386A>T (p.Asn796Tyr)	HIPK3 (N775Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105954	NM_005734.5(HIPK3):c.2410T>C (p.Phe804Leu)	HIPK3 (F804L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284329	NM_005734.5(HIPK3):c.2449G>A (p.Glu817Lys)	HIPK3 (E796K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374550	NM_005734.5(HIPK3):c.2459G>A (p.Cys820Tyr)	HIPK3 (C799Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313757	NM_005734.5(HIPK3):c.2485T>A (p.Ser829Thr)	HIPK3 (S829T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214676	NM_005734.5(HIPK3):c.2561G>A (p.Arg854Gln)	HIPK3 (R833Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284332	NM_005734.5(HIPK3):c.2608A>G (p.Ile870Val)	HIPK3 (I849V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284333	NM_005734.5(HIPK3):c.2665G>C (p.Glu889Gln)	HIPK3 (E868Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284330	NM_005734.5(HIPK3):c.2762G>A (p.Ser921Asn)	HIPK3 (S900N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105955	NM_005734.5(HIPK3):c.2798G>T (p.Arg933Ile)	HIPK3 (R933I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328126	NM_005734.5(HIPK3):c.2870C>T (p.Ser957Phe)	HIPK3 (S936F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284337	NM_005734.5(HIPK3):c.2954C>A (p.Thr985Lys)	HIPK3 (T964K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406188	NM_005734.5(HIPK3):c.3037A>G (p.Asn1013Asp)	HIPK3 (N992D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518480	NM_005734.5(HIPK3):c.3113G>T (p.Gly1038Val)	HIPK3 (G1038V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641714	NM_005734.5(HIPK3):c.3171+4T>G	HIPK3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2557760	NM_005734.5(HIPK3):c.3260G>C (p.Ser1087Thr)	HIPK3 (S1066T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399986	NM_005734.5(HIPK3):c.3281A>G (p.His1094Arg)	HIPK3 (H1073R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105957	NM_005734.5(HIPK3):c.3293A>G (p.Asn1098Ser)	HIPK3 (N1098S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523621	NM_005734.5(HIPK3):c.3311C>A (p.Ala1104Asp)	HIPK3 (A1104D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307277	NM_005734.5(HIPK3):c.3349A>G (p.Thr1117Ala)	HIPK3 (T1117A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486083	NM_005734.5(HIPK3):c.3371C>T (p.Ser1124Leu)	HIPK3 (S1103L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274023	NM_005734.5(HIPK3):c.3413C>T (p.Ala1138Val)	HIPK3 (A1138V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284336	NM_005734.5(HIPK3):c.3568C>T (p.His1190Tyr)	HIPK3 (H1169Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597582	NM_005734.5(HIPK3):c.3605T>G (p.Phe1202Cys)	HIPK3 (F1202C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459567	NM_005734.5(HIPK3):c.3619A>T (p.Thr1207Ser)	HIPK3 (T1207S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 59