HHIPL2[gene] and "single gene"[properties] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2526227	NM_024746.4(HHIPL2):c.2153G>C (p.Arg718Pro)	HHIPL2 (R718P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776341	NM_024746.4(HHIPL2):c.2097G>A (p.Arg699=)	HHIPL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2316079	NM_024746.4(HHIPL2):c.2069T>C (p.Val690Ala)	HHIPL2 (V690A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 716062	NM_024746.4(HHIPL2):c.2046dup (p.Gly683fs)	HHIPL2 (G683fs)	Duplication (frameshift variant)	not provided	GBenign
Select item 3284239	NM_024746.4(HHIPL2):c.2045C>T (p.Pro682Leu)	HHIPL2 (P682L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280926	NM_024746.4(HHIPL2):c.1952C>T (p.Thr651Ile)	HHIPL2 (T651I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589938	NM_024746.4(HHIPL2):c.1947T>A (p.Ser649Arg)	HHIPL2 (S649R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344076	NM_024746.4(HHIPL2):c.1864C>T (p.Arg622Trp)	HHIPL2 (R622W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593794	NM_024746.4(HHIPL2):c.1859G>C (p.Ser620Thr)	HHIPL2 (S620T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329214	NM_024746.4(HHIPL2):c.1846G>C (p.Val616Leu)	HHIPL2 (V616L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333916	NM_024746.4(HHIPL2):c.1799C>T (p.Pro600Leu)	HHIPL2 (P600L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340415	NM_024746.4(HHIPL2):c.1757G>C (p.Ser586Thr)	HHIPL2 (S586T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105735	NM_024746.4(HHIPL2):c.1750T>C (p.Tyr584His)	HHIPL2 (Y584H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105734	NM_024746.4(HHIPL2):c.1688G>A (p.Ser563Asn)	HHIPL2 (S563N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264169	NM_024746.4(HHIPL2):c.1657T>C (p.Cys553Arg)	HHIPL2 (C553R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105732	NM_024746.4(HHIPL2):c.1587G>C (p.Met529Ile)	HHIPL2 (M529I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392911	NM_024746.4(HHIPL2):c.1586T>C (p.Met529Thr)	HHIPL2 (M529T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549593	NM_024746.4(HHIPL2):c.1535C>A (p.Pro512Gln)	HHIPL2 (P512Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105731	NM_024746.4(HHIPL2):c.1517A>G (p.Tyr506Cys)	HHIPL2 (Y506C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720660	NM_024746.4(HHIPL2):c.1459C>A (p.Leu487Met)	HHIPL2 (L487M)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2399762	NM_024746.4(HHIPL2):c.1442C>T (p.Ala481Val)	HHIPL2 (A481V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399761	NM_024746.4(HHIPL2):c.1441G>T (p.Ala481Ser)	HHIPL2 (A481S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262927	NM_024746.4(HHIPL2):c.1381A>G (p.Asn461Asp)	HHIPL2 (N461D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454477	NM_024746.4(HHIPL2):c.1358T>C (p.Val453Ala)	HHIPL2 (V453A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105729	NM_024746.4(HHIPL2):c.1298C>T (p.Thr433Met)	HHIPL2 (T433M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261934	NM_024746.4(HHIPL2):c.1288G>A (p.Asp430Asn)	HHIPL2 (D430N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105728	NM_024746.4(HHIPL2):c.1267C>T (p.Arg423Cys)	HHIPL2 (R423C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232803	NM_024746.4(HHIPL2):c.1226C>A (p.Ala409Asp)	HHIPL2 (A409D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105727	NM_024746.4(HHIPL2):c.1202A>G (p.Asn401Ser)	HHIPL2 (N401S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105726	NM_024746.4(HHIPL2):c.1174G>A (p.Gly392Ser)	HHIPL2 (G392S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220252	NM_024746.4(HHIPL2):c.1069G>A (p.Gly357Arg)	HHIPL2 (G357R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610931	NM_024746.4(HHIPL2):c.1007A>G (p.Asn336Ser)	HHIPL2 (N336S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297925	NM_024746.4(HHIPL2):c.902T>C (p.Val301Ala)	HHIPL2 (V301A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288613	NM_024746.4(HHIPL2):c.860G>T (p.Arg287Leu)	HHIPL2 (R287L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264835	NM_024746.4(HHIPL2):c.838C>T (p.His280Tyr)	HHIPL2 (H280Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549387	NM_024746.4(HHIPL2):c.796C>T (p.Pro266Ser)	HHIPL2 (P266S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350579	NM_024746.4(HHIPL2):c.793A>G (p.Thr265Ala)	HHIPL2 (T265A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359141	NM_024746.4(HHIPL2):c.782T>G (p.Ile261Ser)	HHIPL2 (I261S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410891	NM_024746.4(HHIPL2):c.781A>C (p.Ile261Leu)	HHIPL2 (I261L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235980	NM_024746.4(HHIPL2):c.745A>G (p.Ser249Gly)	HHIPL2 (S249G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391017	NM_024746.4(HHIPL2):c.727G>T (p.Val243Phe)	HHIPL2 (V243F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257147	NM_024746.4(HHIPL2):c.710A>G (p.Gln237Arg)	HHIPL2 (Q237R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105743	NM_024746.4(HHIPL2):c.664A>G (p.Met222Val)	HHIPL2 (M222V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374998	NM_024746.4(HHIPL2):c.659T>A (p.Val220Asp)	HHIPL2 (V220D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328988	NM_024746.4(HHIPL2):c.630C>A (p.Ser210Arg)	HHIPL2 (S210R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728848	NM_024746.4(HHIPL2):c.589G>A (p.Val197Met)	HHIPL2 (V197M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2207774	NM_024746.4(HHIPL2):c.551T>A (p.Val184Asp)	HHIPL2 (V184D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709036	NM_024746.4(HHIPL2):c.490dup (p.Asp164fs)	HHIPL2 (D164fs)	Duplication (frameshift variant)	not provided	GBenign
Select item 3105742	NM_024746.4(HHIPL2):c.473A>G (p.Gln158Arg)	HHIPL2 (Q158R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105740	NM_024746.4(HHIPL2):c.430T>C (p.Cys144Arg)	HHIPL2 (C144R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302141	NM_024746.4(HHIPL2):c.419T>C (p.Phe140Ser)	HHIPL2 (F140S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378624	NM_024746.4(HHIPL2):c.358G>A (p.Glu120Lys)	HHIPL2 (E120K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618061	NM_024746.4(HHIPL2):c.310A>G (p.Ile104Val)	HHIPL2 (I104V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105739	NM_024746.4(HHIPL2):c.301A>G (p.Ile101Val)	HHIPL2 (I101V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105738	NM_024746.4(HHIPL2):c.299A>C (p.Tyr100Ser)	HHIPL2 (Y100S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105737	NM_024746.4(HHIPL2):c.235G>A (p.Ala79Thr)	HHIPL2 (A79T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463805	NM_024746.4(HHIPL2):c.230G>T (p.Arg77Leu)	HHIPL2 (R77L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788771	NM_024746.4(HHIPL2):c.225C>T (p.Asp75=)	HHIPL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3105733	NM_024746.4(HHIPL2):c.167T>A (p.Leu56Gln)	HHIPL2 (L56Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533361	NM_024746.4(HHIPL2):c.128C>G (p.Pro43Arg)	HHIPL2 (P43R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284240	NM_024746.4(HHIPL2):c.124C>T (p.His42Tyr)	HHIPL2 (H42Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105745	NM_024746.4(HHIPL2):c.90A>G (p.Ile30Met)	HHIPL2 (I30M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284241	NM_024746.4(HHIPL2):c.71T>C (p.Ile24Thr)	HHIPL2 (I24T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213862	NM_024746.4(HHIPL2):c.46C>T (p.Arg16Trp)	HHIPL2 (R16W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2544726	NM_024746.4(HHIPL2):c.20C>T (p.Pro7Leu)	HHIPL2 (P7L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 65