ClinVar for Gene (Select 9026) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3284320	NM_003959.3(HIP1R):c.1254G>C (p.Gln418His)	HIP1R (Q406H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284319	NM_003959.3(HIP1R):c.2107A>G (p.Ile703Val)	HIP1R (I703V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284318	NM_003959.3(HIP1R):c.1309G>A (p.Glu437Lys)	HIP1R (E425K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284317	NM_003959.3(HIP1R):c.1169C>T (p.Ala390Val)	HIP1R (A378V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284316	NM_003959.3(HIP1R):c.2791C>G (p.His931Asp)	HIP1R (H931D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284315	NM_003959.3(HIP1R):c.607G>A (p.Val203Ile)	HIP1R (V191I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284314	NM_003959.3(HIP1R):c.265G>A (p.Val89Ile)	HIP1R (V77I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284313	NM_003959.3(HIP1R):c.2083T>G (p.Phe695Val)	HIP1R (F695V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284312	NM_003959.3(HIP1R):c.2725G>A (p.Glu909Lys)	HIP1R, LOC124849271 (E909K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284311	NM_003959.3(HIP1R):c.2000C>T (p.Ala667Val)	HIP1R (A667V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284310	NM_003959.3(HIP1R):c.604G>A (p.Ala202Thr)	HIP1R (A202T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244258	NC_000012.11:g.(?_120270555)_(124242579_?)dup	ABCB9, ACADS +73 more	Duplication	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 3105911	NM_003959.3(HIP1R):c.763G>A (p.Glu255Lys)	HIP1R (E255K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105910	NM_003959.3(HIP1R):c.56G>T (p.Ser19Ile)	HIP1R (S19I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105909	NM_003959.3(HIP1R):c.3136G>A (p.Val1046Met)	HIP1R (V1046M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3105907	NM_003959.3(HIP1R):c.3115C>A (p.Pro1039Thr)	HIP1R (P1039T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105906	NM_003959.3(HIP1R):c.3073C>T (p.Arg1025Trp)	HIP1R (R1025W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105905	NM_003959.3(HIP1R):c.2908G>A (p.Gly970Ser)	HIP1R (G970S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105904	NM_003959.3(HIP1R):c.2713G>A (p.Val905Ile)	HIP1R, LOC124849271 (V905I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105903	NM_003959.3(HIP1R):c.2383G>A (p.Glu795Lys)	HIP1R (E795K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105901	NM_003959.3(HIP1R):c.2267C>A (p.Pro756His)	HIP1R (P756H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105900	NM_003959.3(HIP1R):c.215T>C (p.Ile72Thr)	HIP1R (I72T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105899	NM_003959.3(HIP1R):c.1890G>C (p.Glu630Asp)	HIP1R (E630D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105898	NM_003959.3(HIP1R):c.1864G>A (p.Ala622Thr)	HIP1R (A622T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105897	NM_003959.3(HIP1R):c.1829A>T (p.Gln610Leu)	HIP1R (Q610L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105896	NM_003959.3(HIP1R):c.1814G>A (p.Arg605Lys)	HIP1R (R605K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3105895	NM_003959.3(HIP1R):c.1769G>A (p.Arg590His)	HIP1R (R590H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105894	NM_003959.3(HIP1R):c.1748C>T (p.Ala583Val)	HIP1R (A571V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105893	NM_003959.3(HIP1R):c.1735G>C (p.Glu579Gln)	HIP1R (E579Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105892	NM_003959.3(HIP1R):c.1735G>A (p.Glu579Lys)	HIP1R (E579K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105891	NM_003959.3(HIP1R):c.1691G>A (p.Arg564Gln)	HIP1R (R564Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105890	NM_003959.3(HIP1R):c.1588C>T (p.Arg530Cys)	HIP1R (R530C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105888	NM_003959.3(HIP1R):c.136G>A (p.Val46Met)	HIP1R (V34M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105887	NM_003959.3(HIP1R):c.1334C>T (p.Ala445Val)	HIP1R (A433V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105886	NM_003959.3(HIP1R):c.1204A>C (p.Lys402Gln)	HIP1R (K390Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105885	NM_003959.3(HIP1R):c.1178G>A (p.Gly393Asp)	HIP1R (G393D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684685	GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3	AACS, ABCB9 +93 more	Copy number gain	not provided	GPathogenic
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic
Select item 2643507	NM_003959.3(HIP1R):c.453C>T (p.Pro151=)	HIP1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2607435	NM_003959.3(HIP1R):c.1547A>C (p.Lys516Thr)	HIP1R (K504T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599531	NM_003959.3(HIP1R):c.850G>A (p.Glu284Lys)	HIP1R (E272K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594104	NM_003959.3(HIP1R):c.1237C>T (p.Arg413Cys)	HIP1R (R413C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592989	NM_003959.3(HIP1R):c.2998C>T (p.Arg1000Trp)	HIP1R (R1000W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591267	NM_003959.3(HIP1R):c.1019C>T (p.Thr340Met)	HIP1R (T328M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590082	NM_003959.3(HIP1R):c.1615G>C (p.Glu539Gln)	HIP1R (E527Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2580326	GRCh37/hg19 12q24.31(chr12:121341598-124103434)x3	ABCB9, ANAPC5 +48 more	Copy number gain	See cases	GUncertain significance
Select item 2551600	NM_003959.3(HIP1R):c.3116C>T (p.Pro1039Leu)	HIP1R (P1039L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550633	NM_003959.3(HIP1R):c.819C>G (p.Phe273Leu)	HIP1R (F273L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550109	NM_003959.3(HIP1R):c.1517A>C (p.Lys506Thr)	HIP1R (K494T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547940	NM_003959.3(HIP1R):c.1156A>G (p.Ser386Gly)	HIP1R (S374G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2544928	NM_003959.3(HIP1R):c.2395C>T (p.Arg799Trp)	HIP1R (R799W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522499	NM_003959.3(HIP1R):c.1460G>A (p.Arg487Gln)	HIP1R (R475Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522394	NM_003959.3(HIP1R):c.1337G>A (p.Arg446His)	HIP1R (R434H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521351	NM_003959.3(HIP1R):c.1051G>A (p.Asp351Asn)	HIP1R (D351N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508915	NM_003959.3(HIP1R):c.1297C>T (p.Arg433Cys)	HIP1R (R433C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492501	NM_003959.3(HIP1R):c.477G>T (p.Glu159Asp)	HIP1R (E147D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483642	NM_003959.3(HIP1R):c.1214C>G (p.Ala405Gly)	HIP1R (A393G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468549	NM_003959.3(HIP1R):c.1715C>T (p.Ala572Val)	HIP1R (A560V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467760	NM_003959.3(HIP1R):c.2978C>T (p.Thr993Met)	HIP1R (T993M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461974	NM_003959.3(HIP1R):c.2656C>A (p.Leu886Met)	HIP1R, LOC124849271 (L886M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426783	NC_000012.11:g.(?_122277634)_(124242579_?)del	ABCB9, ARL6IP4 +37 more	Deletion	not provided	GUncertain significance
Select item 2404952	NM_003959.3(HIP1R):c.808A>G (p.Met270Val)	HIP1R (M258V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396719	NM_003959.3(HIP1R):c.1767G>C (p.Gln589His)	HIP1R (Q589H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389736	NM_003959.3(HIP1R):c.2336T>C (p.Leu779Pro)	HIP1R (L779P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383767	NM_003959.3(HIP1R):c.3178A>G (p.Ile1060Val)	HIP1R (I1060V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2374165	NM_003959.3(HIP1R):c.2080C>T (p.Arg694Cys)	HIP1R (R694C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365641	NM_003959.3(HIP1R):c.1837C>T (p.Arg613Trp)	HIP1R (R613W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364130	NM_003959.3(HIP1R):c.1756C>T (p.Arg586Trp)	HIP1R (R586W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362549	NM_003959.3(HIP1R):c.1433C>T (p.Thr478Met)	HIP1R (T466M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360878	NM_003959.3(HIP1R):c.374G>A (p.Arg125His)	HIP1R (R113H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358734	NM_003959.3(HIP1R):c.2956C>T (p.Arg986Cys)	HIP1R (R986C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358418	NM_003959.3(HIP1R):c.1034A>G (p.Asn345Ser)	HIP1R (N345S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354208	NM_003959.3(HIP1R):c.2948C>T (p.Thr983Ile)	HIP1R (T983I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352930	NM_003959.3(HIP1R):c.372C>A (p.Asp124Glu)	HIP1R (D124E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345837	NM_003959.3(HIP1R):c.919G>A (p.Glu307Lys)	HIP1R (E307K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338536	NM_003959.3(HIP1R):c.307C>T (p.His103Tyr)	HIP1R (H103Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333169	NM_003959.3(HIP1R):c.2710A>G (p.Ile904Val)	HIP1R, LOC124849271 (I904V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321727	NM_003959.3(HIP1R):c.3004G>A (p.Gly1002Arg)	HIP1R (G1002R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319973	NM_003959.3(HIP1R):c.834G>T (p.Gln278His)	HIP1R (Q278H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316568	NM_003959.3(HIP1R):c.2425C>T (p.Arg809Cys)	HIP1R (R809C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307900	NM_003959.3(HIP1R):c.2431G>A (p.Ala811Thr)	HIP1R (A811T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305289	NM_003959.3(HIP1R):c.1736A>G (p.Glu579Gly)	HIP1R (E567G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295239	NM_003959.3(HIP1R):c.829A>T (p.Ile277Phe)	HIP1R (I265F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293463	NM_003959.3(HIP1R):c.2060C>T (p.Ala687Val)	HIP1R (A687V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279760	NM_003959.3(HIP1R):c.2054C>T (p.Ala685Val)	HIP1R (A685V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272967	NM_003959.3(HIP1R):c.3188C>T (p.Ala1063Val)	HIP1R (A1063V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272966	NM_003959.3(HIP1R):c.2275G>A (p.Gly759Ser)	HIP1R (G759S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269567	NM_003959.3(HIP1R):c.2692G>A (p.Gly898Ser)	HIP1R, LOC124849271 (G898S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254165	NM_003959.3(HIP1R):c.1797G>C (p.Gln599His)	HIP1R (Q587H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246490	NM_003959.3(HIP1R):c.1238G>A (p.Arg413His)	HIP1R (R401H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246127	NM_003959.3(HIP1R):c.1591G>A (p.Ala531Thr)	HIP1R (A519T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244017	NM_003959.3(HIP1R):c.2392G>T (p.Val798Leu)	HIP1R (V798L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239454	NM_003959.3(HIP1R):c.584G>A (p.Arg195Gln)	HIP1R (R183Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232125	NM_003959.3(HIP1R):c.1427C>T (p.Thr476Met)	HIP1R (T476M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212787	NM_003959.3(HIP1R):c.1745C>T (p.Ala582Val)	HIP1R (A570V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212692	NM_003959.3(HIP1R):c.1855G>A (p.Glu619Lys)	HIP1R (E619K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527745	GRCh37/hg19 12q24.31(chr12:122938957-123747037)	ABCB9, ARL6IP4 +15 more	Copy number gain	not specified	GUncertain significance
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 1328462	GRCh37/hg19 12q24.31(chr12:121887337-123386068)x3	B3GNT4, BCL7A +25 more	Copy number gain	not provided	GUncertain significance
Select item 770416	NM_003959.3(HIP1R):c.3145A>C (p.Arg1049=)	HIP1R	Single nucleotide variant (synonymous variant)	not provided	GBenign

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