ClinVar for Gene (Select 80201) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3106162	NM_025130.4(HKDC1):c.945G>T (p.Lys315Asn)	HKDC1 (K315N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106161	NM_025130.4(HKDC1):c.901T>C (p.Tyr301His)	HKDC1 (Y301H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106160	NM_025130.4(HKDC1):c.799G>A (p.Asp267Asn)	HKDC1 (D267N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106159	NM_025130.4(HKDC1):c.660C>A (p.Asp220Glu)	HKDC1 (D220E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106158	NM_025130.4(HKDC1):c.604G>A (p.Asp202Asn)	HKDC1 (D202N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106157	NM_025130.4(HKDC1):c.2500G>A (p.Gly834Ser)	HKDC1 (G834S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106156	NM_025130.4(HKDC1):c.2483G>A (p.Arg828Gln)	HKDC1 (R828Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106155	NM_025130.4(HKDC1):c.2359T>A (p.Ser787Thr)	HKDC1 (S787T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106154	NM_025130.4(HKDC1):c.2243A>C (p.Tyr748Ser)	HKDC1 (Y748S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106153	NM_025130.4(HKDC1):c.2173G>A (p.Asp725Asn)	HKDC1 (D725N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106151	NM_025130.4(HKDC1):c.2132T>A (p.Phe711Tyr)	HKDC1 (F711Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106150	NM_025130.4(HKDC1):c.2077G>A (p.Glu693Lys)	HKDC1 (E693K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106149	NM_025130.4(HKDC1):c.1966G>A (p.Asp656Asn)	HKDC1 (D656N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106148	NM_025130.4(HKDC1):c.1825A>G (p.Ser609Gly)	HKDC1 (S609G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106147	NM_025130.4(HKDC1):c.1744G>T (p.Ala582Ser)	HKDC1 (A582S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106146	NM_025130.4(HKDC1):c.1672A>G (p.Ile558Val)	HKDC1 (I558V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106144	NM_025130.4(HKDC1):c.1583T>C (p.Phe528Ser)	HKDC1 (F528S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106143	NM_025130.4(HKDC1):c.1559C>T (p.Pro520Leu)	HKDC1 (P520L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106142	NM_025130.4(HKDC1):c.1546G>A (p.Val516Ile)	HKDC1 (V516I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106141	NM_025130.4(HKDC1):c.1486G>A (p.Glu496Lys)	HKDC1 (E496K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106140	NM_025130.4(HKDC1):c.1372G>A (p.Ala458Thr)	HKDC1 (A458T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106138	NM_025130.4(HKDC1):c.1213C>T (p.Arg405Trp)	HKDC1 (R405W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106137	NM_025130.4(HKDC1):c.1192C>T (p.Arg398Trp)	HKDC1 (R398W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068150	NM_025130.4(HKDC1):c.361G>A (p.Gly121Arg)	HKDC1, LOC126860950 (G121R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 92	GUncertain significance
Select item 3065578	NM_025130.4(HKDC1):c.250G>A (p.Asp84Asn)	HKDC1, LOC126860950 (D84N)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 92	GLikely pathogenic
Select item 3065416	NM_025130.4(HKDC1):c.1250A>G (p.Tyr417Cys)	HKDC1 (Y417C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 92	GLikely pathogenic
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2640546	NM_025130.4(HKDC1):c.2674T>C (p.Ser892Pro)	HKDC1 (S892P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2640545	NM_025130.4(HKDC1):c.1276C>T (p.Arg426Cys)	HKDC1 (R426C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2640544	NM_025130.4(HKDC1):c.126G>T (p.Arg42=)	HKDC1, LOC101928994	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620228	NM_025130.4(HKDC1):c.2413C>A (p.Gln805Lys)	HKDC1 (Q805K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598452	NM_025130.4(HKDC1):c.1354G>A (p.Gly452Arg)	HKDC1 (G452R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595564	NM_025130.4(HKDC1):c.1411G>A (p.Asp471Asn)	HKDC1 (D471N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589976	NM_025130.4(HKDC1):c.1145C>T (p.Ser382Leu)	HKDC1 (S382L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2565204	NM_025130.4(HKDC1):c.2219A>G (p.Tyr740Cys)	HKDC1 (Y740C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558133	NM_025130.4(HKDC1):c.2663C>T (p.Thr888Ile)	HKDC1 (T888I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539969	NM_025130.4(HKDC1):c.1662G>C (p.Met554Ile)	HKDC1 (M554I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536960	NM_025130.4(HKDC1):c.1127C>T (p.Thr376Ile)	HKDC1 (T376I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525469	NM_025130.4(HKDC1):c.763A>T (p.Met255Leu)	HKDC1 (M255L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519432	NM_025130.4(HKDC1):c.821G>A (p.Arg274His)	HKDC1 (R274H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496258	NM_025130.4(HKDC1):c.2107T>C (p.Cys703Arg)	HKDC1 (C703R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489985	NM_025130.4(HKDC1):c.2419G>A (p.Gly807Ser)	HKDC1 (G807S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472739	NM_025130.4(HKDC1):c.820C>A (p.Arg274Ser)	HKDC1 (R274S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465995	NM_025130.4(HKDC1):c.1646G>A (p.Arg549Gln)	HKDC1 (R549Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412026	NM_025130.4(HKDC1):c.281A>C (p.Lys94Thr)	HKDC1, LOC126860950 (K94T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410017	NM_025130.4(HKDC1):c.1459G>A (p.Val487Met)	HKDC1 (V487M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405556	NM_025130.4(HKDC1):c.730A>G (p.Asn244Asp)	HKDC1 (N244D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387033	NM_025130.4(HKDC1):c.680G>T (p.Gly227Val)	HKDC1 (G227V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380332	NM_025130.4(HKDC1):c.2326C>T (p.Arg776Trp)	HKDC1 (R776W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377043	NM_025130.4(HKDC1):c.820C>T (p.Arg274Cys)	HKDC1 (R274C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370511	NM_025130.4(HKDC1):c.2218T>A (p.Tyr740Asn)	HKDC1 (Y740N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369899	NM_025130.4(HKDC1):c.358C>T (p.Arg120Cys)	HKDC1, LOC126860950 (R120C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367953	NM_025130.4(HKDC1):c.2327G>A (p.Arg776Gln)	HKDC1 (R776Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365214	NM_025130.4(HKDC1):c.2168G>A (p.Arg723Gln)	HKDC1 (R723Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2363584	NM_025130.4(HKDC1):c.324G>C (p.Glu108Asp)	HKDC1, LOC126860950 (E108D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363391	NM_025130.4(HKDC1):c.130C>T (p.Arg44Trp)	HKDC1, LOC101928994 (R44W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359419	NM_025130.4(HKDC1):c.2150T>C (p.Ile717Thr)	HKDC1 (I717T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354366	NM_025130.4(HKDC1):c.2090G>A (p.Gly697Glu)	HKDC1 (G697E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349788	NM_025130.4(HKDC1):c.1894G>A (p.Val632Met)	HKDC1 (V632M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345475	NM_025130.4(HKDC1):c.1400G>A (p.Arg467Gln)	HKDC1 (R467Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338592	NM_025130.4(HKDC1):c.301G>C (p.Gly101Arg)	HKDC1, LOC126860950 (G101R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331911	NM_025130.4(HKDC1):c.2732A>G (p.Gln911Arg)	HKDC1 (Q911R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325086	NM_025130.4(HKDC1):c.2089G>A (p.Gly697Arg)	HKDC1 (G697R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324929	NM_025130.4(HKDC1):c.832G>A (p.Asp278Asn)	HKDC1 (D278N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320012	NM_025130.4(HKDC1):c.326G>A (p.Ser109Asn)	HKDC1, LOC126860950 (S109N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316720	NM_025130.4(HKDC1):c.124C>T (p.Arg42Trp)	HKDC1, LOC101928994 (R42W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307671	NM_025130.4(HKDC1):c.2566A>T (p.Thr856Ser)	HKDC1 (T856S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298558	NM_025130.4(HKDC1):c.887T>C (p.Met296Thr)	HKDC1 (M296T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293954	NM_025130.4(HKDC1):c.2018T>C (p.Ile673Thr)	HKDC1 (I673T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282731	NM_025130.4(HKDC1):c.202G>A (p.Val68Ile)	HKDC1, LOC101928994 (V68I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269203	NM_025130.4(HKDC1):c.1543T>C (p.Tyr515His)	HKDC1 (Y515H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264970	NM_025130.4(HKDC1):c.2056A>G (p.Met686Val)	HKDC1 (M686V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256335	NM_025130.4(HKDC1):c.1732G>A (p.Val578Met)	HKDC1 (V578M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250845	NM_025130.4(HKDC1):c.359G>A (p.Arg120His)	HKDC1, LOC126860950 (R120H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240366	NM_025130.4(HKDC1):c.584G>C (p.Arg195Thr)	HKDC1 (R195T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239172	NM_025130.4(HKDC1):c.1604G>T (p.Gly535Val)	HKDC1 (G535V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233658	NM_025130.4(HKDC1):c.2645C>T (p.Ala882Val)	HKDC1 (A882V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233480	NM_025130.4(HKDC1):c.1203G>C (p.Lys401Asn)	HKDC1 (K401N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227477	NM_025130.4(HKDC1):c.2093G>A (p.Gly698Asp)	HKDC1 (G698D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2225235	NM_025130.4(HKDC1):c.2303G>A (p.Arg768Gln)	HKDC1 (R768Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223528	NM_025130.4(HKDC1):c.1960G>A (p.Val654Met)	HKDC1 (V654M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223126	NM_025130.4(HKDC1):c.2528A>C (p.Lys843Thr)	HKDC1 (K843T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212310	NM_025130.4(HKDC1):c.328C>G (p.Gln110Glu)	HKDC1, LOC126860950 (Q110E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527589	GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	ADAMTS14, ADK +91 more	Copy number loss	not specified	GPathogenic
Select item 1444876	NC_000010.10:g.(?_67680088)_(71332799_?)del	ATOH7, CCAR1 +24 more	Deletion	not provided	GUncertain significance
Select item 1321242	NM_025130.4(HKDC1):c.173C>T (p.Thr58Met)	HKDC1, LOC101928994 (T58M)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 92	GPathogenic
Select item 774683	NM_025130.4(HKDC1):c.2472C>T (p.Ala824=)	HKDC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 749344	NM_025130.4(HKDC1):c.1371C>T (p.Thr457=)	HKDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 711536	NM_025130.4(HKDC1):c.2577G>C (p.Val859=)	HKDC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709947	NM_025130.4(HKDC1):c.197C>T (p.Thr66Ile)	HKDC1, LOC101928994 (T66I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 685449	GRCh37/hg19 10q22.1(chr10:70990823-71087266)x3	HK1, HKDC1	Copy number gain	not provided	GUncertain significance
Select item 617836	NM_025130.4(HKDC1):c.2302C>T (p.Arg768Ter)	HKDC1 (R768*)	Single nucleotide variant (nonsense)	Nonsyndromic cleft lip palate	GLikely pathogenic
Select item 617835	NM_025130.4(HKDC1):c.1258C>T (p.His420Tyr)	HKDC1 (H420Y)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 92	GBenign
Select item 599517	NM_025130.4(HKDC1):c.1088C>T (p.Pro363Leu)	HKDC1 (P363L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 599516	NM_025130.4(HKDC1):c.1009C>T (p.Arg337Trp)	HKDC1 (R337W)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599515	NM_025130.4(HKDC1):c.301G>T (p.Gly101Trp)	HKDC1, LOC126860950 (G101W)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response

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