ClinVar for Gene (Select 3101) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3284417	NM_002115.3(HK3):c.357G>C (p.Glu119Asp)	HK3 (E119D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284416	NM_002115.3(HK3):c.919G>A (p.Glu307Lys)	HK3 (E307K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284415	NM_002115.3(HK3):c.95T>C (p.Leu32Pro)	HK3 (L32P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284414	NM_002115.3(HK3):c.1512G>T (p.Met504Ile)	HK3 (M504I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284413	NM_002115.3(HK3):c.2399G>A (p.Ser800Asn)	HK3 (S800N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284411	NM_002115.3(HK3):c.1637C>T (p.Thr546Met)	HK3 (T546M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284410	NM_002115.3(HK3):c.2542G>A (p.Val848Met)	HK3 (V848M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284409	NM_002115.3(HK3):c.1996G>A (p.Gly666Arg)	HK3 (G666R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284408	NM_002115.3(HK3):c.1630G>A (p.Gly544Arg)	HK3 (G544R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284407	NM_002115.3(HK3):c.982C>T (p.Arg328Trp)	HK3 (R328W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284406	NM_002115.3(HK3):c.1864C>T (p.Leu622Phe)	HK3 (L622F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242320	GRCh37/hg19 5q35.2-35.3(chr5:175470000-177450000)x1	ARL10, B4GALT7 +37 more	Copy number loss	not provided	GPathogenic
Select item 3106136	NM_002115.3(HK3):c.871G>T (p.Asp291Tyr)	HK3 (D291Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106135	NM_002115.3(HK3):c.839A>C (p.Asp280Ala)	HK3 (D280A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106134	NM_002115.3(HK3):c.793C>T (p.Arg265Trp)	HK3 (R265W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106133	NM_002115.3(HK3):c.695C>T (p.Pro232Leu)	HK3 (P232L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3106132	NM_002115.3(HK3):c.553A>T (p.Thr185Ser)	HK3 (T185S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106131	NM_002115.3(HK3):c.524G>A (p.Gly175Asp)	HK3 (G175D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106130	NM_002115.3(HK3):c.487C>A (p.Leu163Ile)	HK3 (L163I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106129	NM_002115.3(HK3):c.366C>A (p.Ser122Arg)	HK3 (S122R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106128	NM_002115.3(HK3):c.359C>A (p.Pro120His)	HK3 (P120H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106127	NM_002115.3(HK3):c.317T>C (p.Leu106Ser)	HK3 (L106S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106126	NM_002115.3(HK3):c.2765G>A (p.Arg922His)	HK3 (R922H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106125	NM_002115.3(HK3):c.2734G>A (p.Ala912Thr)	HK3 (A912T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106124	NM_002115.3(HK3):c.2622C>G (p.His874Gln)	HK3 (H874Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106123	NM_002115.3(HK3):c.2518T>C (p.Cys840Arg)	HK3 (C840R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106122	NM_002115.3(HK3):c.235G>T (p.Val79Leu)	HK3 (V79L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106121	NM_002115.3(HK3):c.2350A>G (p.Thr784Ala)	HK3 (T784A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106120	NM_002115.3(HK3):c.2263T>A (p.Tyr755Asn)	HK3 (Y755N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106119	NM_002115.3(HK3):c.2160C>A (p.Asp720Glu)	HK3 (D720E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106118	NM_002115.3(HK3):c.2027C>T (p.Pro676Leu)	HK3 (P676L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106117	NM_002115.3(HK3):c.1826C>T (p.Ser609Phe)	HK3 (S609F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106116	NM_002115.3(HK3):c.1795G>A (p.Gly599Arg)	HK3 (G599R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106115	NM_002115.3(HK3):c.1708G>A (p.Glu570Lys)	HK3 (E570K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106113	NM_002115.3(HK3):c.1555C>T (p.Leu519Phe)	HK3 (L519F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106112	NM_002115.3(HK3):c.1514G>T (p.Arg505Leu)	HK3 (R505L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106111	NM_002115.3(HK3):c.1472G>A (p.Arg491Gln)	HK3 (R491Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106110	NM_002115.3(HK3):c.1166C>T (p.Ala389Val)	HK3 (A389V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106109	NM_002115.3(HK3):c.1015C>A (p.Pro339Thr)	HK3 (P339T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062859	GRCh37/hg19 5q35.2(chr5:175822822-176520008)x1	CDHR2, CLTB +11 more	Copy number loss	not specified	GUncertain significance
Select item 2685186	GRCh37/hg19 5q35.2-35.3(chr5:175332333-177469711)x1	ARL10, B4GALT7 +38 more	Copy number loss	not provided	GPathogenic
Select item 2685184	GRCh37/hg19 5q35.1-35.2(chr5:171836503-176517734)x1	ARL10, ATP6V0E1 +37 more	Copy number loss	not provided	GPathogenic
Select item 2671584	Single allele	FAM193B, GPRIN1 +36 more	Deletion	not provided	GPathogenic
Select item 2656097	NM_002115.3(HK3):c.534G>A (p.Arg178=)	HK3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2656096	NM_002115.3(HK3):c.1671A>T (p.Thr557=)	HK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656095	NM_002115.3(HK3):c.2086C>T (p.Leu696Phe)	HK3 (L696F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2614818	NM_002115.3(HK3):c.2079G>C (p.Met693Ile)	HK3 (M693I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606864	NM_002115.3(HK3):c.447G>C (p.Glu149Asp)	HK3 (E149D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606748	NM_002115.3(HK3):c.1706C>T (p.Pro569Leu)	HK3 (P569L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604497	NM_002115.3(HK3):c.2110G>A (p.Gly704Arg)	HK3 (G704R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597785	NM_002115.3(HK3):c.2227G>A (p.Gly743Ser)	HK3 (G743S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597347	NM_002115.3(HK3):c.2089C>T (p.Arg697Trp)	HK3 (R697W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595381	NM_002115.3(HK3):c.2554C>T (p.Arg852Trp)	HK3 (R852W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593856	NM_002115.3(HK3):c.2323C>T (p.Arg775Trp)	HK3 (R775W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592683	NM_002115.3(HK3):c.1028G>A (p.Ser343Asn)	HK3 (S343N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590509	NM_002115.3(HK3):c.2710G>A (p.Gly904Ser)	HK3 (G904S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579264	GRCh38/hg38 5q35.2-35.3(chr5:176447531-177312407)x1	LOC129995352, LOC129995353 +65 more	Copy number loss	Sotos syndrome	GPathogenic
Select item 2555232	NM_002115.3(HK3):c.310C>T (p.Arg104Cys)	HK3 (R104C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553983	NM_002115.3(HK3):c.301G>A (p.Ala101Thr)	HK3 (A101T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549225	NM_002115.3(HK3):c.2138T>G (p.Met713Arg)	HK3 (M713R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533462	NM_002115.3(HK3):c.1195T>C (p.Cys399Arg)	HK3 (C399R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532607	NM_002115.3(HK3):c.206C>A (p.Ala69Asp)	HK3 (A69D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531028	NM_002115.3(HK3):c.1283G>A (p.Arg428Gln)	HK3 (R428Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525695	NM_002115.3(HK3):c.814G>A (p.Val272Ile)	HK3 (V272I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2524131	NM_002115.3(HK3):c.983G>A (p.Arg328Gln)	HK3 (R328Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2517712	NM_002115.3(HK3):c.1975G>A (p.Ala659Thr)	HK3 (A659T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516378	NM_002115.3(HK3):c.1726T>C (p.Ser576Pro)	HK3 (S576P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512163	NM_002115.3(HK3):c.1492G>A (p.Ala498Thr)	HK3 (A498T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487533	NM_002115.3(HK3):c.1922G>C (p.Ser641Thr)	HK3 (S641T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486607	NM_002115.3(HK3):c.600G>T (p.Gln200His)	HK3 (Q200H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482186	NM_002115.3(HK3):c.1091G>A (p.Arg364His)	HK3 (R364H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478047	NM_002115.3(HK3):c.614C>T (p.Ala205Val)	HK3 (A205V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475789	NM_002115.3(HK3):c.2113G>C (p.Asp705His)	HK3 (D705H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472625	NM_002115.3(HK3):c.1814G>A (p.Gly605Asp)	HK3 (G605D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469152	NM_002115.3(HK3):c.1295G>A (p.Arg432Gln)	HK3 (R432Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2454948	NM_002115.3(HK3):c.114G>T (p.Gln38His)	HK3 (Q38H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425922	NC_000005.9:g.(?_175158654)_(179263593_?)dup	ADAMTS2, ARL10 +63 more	Duplication	not provided	GUncertain significance
Select item 2424617	NC_000005.9:g.(?_176289625)_(177151363_?)del	B4GALT7, DBN1 +22 more	Deletion	Sotos syndrome	GPathogenic
Select item 2406558	NM_002115.3(HK3):c.1619C>T (p.Ala540Val)	HK3 (A540V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405261	NM_002115.3(HK3):c.1438C>T (p.Arg480Trp)	HK3 (R480W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394495	NM_002115.3(HK3):c.2314G>A (p.Val772Ile)	HK3 (V772I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374192	NM_002115.3(HK3):c.220A>C (p.Met74Leu)	HK3 (M74L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367938	NM_002115.3(HK3):c.2090G>A (p.Arg697Gln)	HK3 (R697Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2365189	NM_002115.3(HK3):c.1414G>A (p.Val472Met)	HK3 (V472M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362854	NM_002115.3(HK3):c.347A>G (p.His116Arg)	HK3 (H116R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360348	NM_002115.3(HK3):c.1514G>A (p.Arg505Gln)	HK3 (R505Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353014	NM_002115.3(HK3):c.2342G>A (p.Arg781His)	HK3 (R781H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352392	NM_002115.3(HK3):c.1782G>C (p.Lys594Asn)	HK3 (K594N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348435	NM_002115.3(HK3):c.2555G>A (p.Arg852Gln)	HK3 (R852Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347508	NM_002115.3(HK3):c.2349G>T (p.Gln783His)	HK3 (Q783H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345769	NM_002115.3(HK3):c.1465C>T (p.Pro489Ser)	HK3 (P489S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343473	NM_002115.3(HK3):c.2189G>A (p.Arg730His)	HK3 (R730H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342143	NM_002115.3(HK3):c.2432A>G (p.Glu811Gly)	HK3 (E811G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328775	NM_002115.3(HK3):c.34G>C (p.Gly12Arg)	HK3 (G12R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326379	NM_002115.3(HK3):c.2111G>A (p.Gly704Glu)	HK3 (G704E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325973	NM_002115.3(HK3):c.1099G>A (p.Ala367Thr)	HK3 (A367T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2318887	NM_002115.3(HK3):c.592G>A (p.Val198Met)	HK3 (V198M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309036	NM_002115.3(HK3):c.2596G>A (p.Val866Met)	HK3 (V866M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301972	NM_002115.3(HK3):c.1624G>A (p.Asp542Asn)	HK3 (D542N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280434	NM_002115.3(HK3):c.2165G>A (p.Gly722Asp)	HK3 (G722D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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