NISCH[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 155564	GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1	ABHD14A, ABHD14A-ACY1 +197 more	Copy number loss	See cases	GLikely pathogenic
Select item 2386578	NM_007184.4(NISCH):c.13C>G (p.Arg5Gly)	LOC129936862, NISCH (R5G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402047	NM_007184.4(NISCH):c.20T>C (p.Phe7Ser)	LOC129936862, NISCH (F7S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200234	NM_007184.4(NISCH):c.52G>A (p.Glu18Lys)	LOC129936862, NISCH (E18K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464936	NM_007184.4(NISCH):c.316G>A (p.Val106Met)	NISCH (V106M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282276	NM_007184.4(NISCH):c.359A>G (p.Tyr120Cys)	NISCH (Y120C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328423	NM_007184.4(NISCH):c.363G>T (p.Glu121Asp)	NISCH (E121D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481792	NM_007184.4(NISCH):c.379G>A (p.Ala127Thr)	NISCH (A127T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 733315	NM_007184.4(NISCH):c.444C>T (p.Ala148=)	NISCH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2596023	NM_007184.4(NISCH):c.532G>A (p.Gly178Arg)	NISCH (G178R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299828	NM_007184.4(NISCH):c.533G>C (p.Gly178Ala)	NISCH (G178A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200235	NM_007184.4(NISCH):c.620A>G (p.Gln207Arg)	NISCH (Q207R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367212	NM_007184.4(NISCH):c.622C>T (p.Leu208Phe)	NISCH (L208F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596723	NM_007184.4(NISCH):c.629C>T (p.Pro210Leu)	NISCH (P210L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299829	NM_007184.4(NISCH):c.713C>T (p.Ser238Leu)	NISCH (S238L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781969	NM_007184.4(NISCH):c.714G>A (p.Ser238=)	NISCH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3299830	NM_007184.4(NISCH):c.718C>G (p.Pro240Ala)	NISCH (P240A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454227	NM_007184.4(NISCH):c.787T>A (p.Ser263Thr)	NISCH (S263T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232189	NM_007184.4(NISCH):c.824T>C (p.Leu275Pro)	NISCH (L275P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288759	NM_007184.4(NISCH):c.829G>T (p.Gly277Cys)	NISCH (G277C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284891	NM_007184.4(NISCH):c.844G>A (p.Val282Ile)	NISCH (V282I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3299833	NM_007184.4(NISCH):c.851C>G (p.Pro284Arg)	NISCH (P284R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200237	NM_007184.4(NISCH):c.872C>T (p.Thr291Met)	NISCH (T291M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774298	NM_007184.4(NISCH):c.895= (p.Val299=)	NISCH	Variation (no sequence alteration)	not provided	GBenign
Select item 3299832	NM_007184.4(NISCH):c.901G>A (p.Glu301Lys)	NISCH (E301K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299840	NM_007184.4(NISCH):c.1034C>T (p.Ser345Phe)	NISCH (S345F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592039	NM_007184.4(NISCH):c.1115G>A (p.Gly372Asp)	NISCH (G372D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252266	NM_007184.4(NISCH):c.1142A>G (p.Asn381Ser)	NISCH (N381S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200207	NM_007184.4(NISCH):c.1147G>C (p.Asp383His)	NISCH (D383H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299839	NM_007184.4(NISCH):c.1154G>A (p.Arg385Gln)	NISCH (R385Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299834	NM_007184.4(NISCH):c.1158C>G (p.Asp386Glu)	NISCH (D386E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360114	NM_007184.4(NISCH):c.1186C>T (p.Arg396Trp)	NISCH (R396W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393685	NM_007184.4(NISCH):c.1187G>A (p.Arg396Gln)	NISCH (R396Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791926	NM_007184.4(NISCH):c.1379A>G (p.Lys460Arg)	NISCH (K460R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2214975	NM_007184.4(NISCH):c.1433G>A (p.Arg478Gln)	NISCH (R478Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395309	NM_007184.4(NISCH):c.1469C>T (p.Ser490Phe)	NISCH (S490F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200208	NM_007184.4(NISCH):c.1472C>T (p.Pro491Leu)	NISCH (P491L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716630	NM_007184.4(NISCH):c.1488C>T (p.Pro496=)	NISCH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3200209	NM_007184.4(NISCH):c.1532T>C (p.Ile511Thr)	NISCH (I511T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530407	NM_007184.4(NISCH):c.1536G>A (p.Met512Ile)	NISCH (M512I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262406	NM_007184.4(NISCH):c.1567C>T (p.Leu523Phe)	NISCH (L523F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200211	NM_007184.4(NISCH):c.1579G>T (p.Asp527Tyr)	NISCH (D527Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299837	NM_007184.4(NISCH):c.1582A>T (p.Ser528Cys)	NISCH (S528C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200212	NM_007184.4(NISCH):c.1646C>T (p.Ala549Val)	NISCH (A549V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782088	NM_007184.4(NISCH):c.1655C>T (p.Ala552Val)	NISCH (A552V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2596102	NM_007184.4(NISCH):c.1677C>G (p.Asp559Glu)	NISCH (D559E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200213	NM_007184.4(NISCH):c.1678G>A (p.Val560Met)	NISCH (V560M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2551049	NM_007184.4(NISCH):c.1847G>A (p.Arg616Gln)	NISCH (R616Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710198	NM_007184.4(NISCH):c.1872T>C (p.Ala624=)	NISCH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2514113	NM_007184.4(NISCH):c.1912G>C (p.Glu638Gln)	NISCH (E638Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200214	NM_007184.4(NISCH):c.1945G>A (p.Val649Met)	NISCH (V649M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299824	NM_007184.4(NISCH):c.1957C>T (p.Arg653Cys)	NISCH (R653C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789163	NM_007184.4(NISCH):c.2014G>A (p.Glu672Lys)	NISCH (E672K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2371252	NM_007184.4(NISCH):c.2041G>A (p.Glu681Lys)	NISCH (E681K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299835	NM_007184.4(NISCH):c.2116C>G (p.Arg706Gly)	NISCH (R706G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200215	NM_007184.4(NISCH):c.2166C>G (p.Ile722Met)	NISCH (I722M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200216	NM_007184.4(NISCH):c.2180C>T (p.Ala727Val)	NISCH (A727V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482704	NM_007184.4(NISCH):c.2194A>C (p.Thr732Pro)	NISCH (T732P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569632	NM_007184.4(NISCH):c.2203G>A (p.Gly735Ser)	NISCH (G735S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619301	NM_007184.4(NISCH):c.2240G>C (p.Arg747Pro)	NISCH (R747P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510192	NM_007184.4(NISCH):c.2291C>T (p.Pro764Leu)	NISCH (P764L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525444	NM_007184.4(NISCH):c.2377A>G (p.Ile793Val)	NISCH (I793V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200217	NM_007184.4(NISCH):c.2389G>A (p.Ala797Thr)	NISCH (A797T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653884	NM_007184.4(NISCH):c.2451C>T (p.Ala817=)	NISCH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3200218	NM_007184.4(NISCH):c.2506C>T (p.Arg836Cys)	NISCH (R836C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299821	NM_007184.4(NISCH):c.2507G>A (p.Arg836His)	NISCH (R836H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299822	NM_007184.4(NISCH):c.2515C>T (p.Leu839Phe)	NISCH (L839F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299825	NM_007184.4(NISCH):c.2552G>A (p.Arg851His)	NISCH (R851H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653885	NM_007184.4(NISCH):c.2583C>A (p.Val861=)	NISCH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2397548	NM_007184.4(NISCH):c.2597G>T (p.Arg866Leu)	NISCH (R866L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318846	NM_007184.4(NISCH):c.2614G>A (p.Ala872Thr)	NISCH (A872T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299823	NM_007184.4(NISCH):c.2657T>A (p.Leu886His)	NISCH (L886H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263093	NM_007184.4(NISCH):c.2671C>T (p.Arg891Trp)	NISCH (R891W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200220	NM_007184.4(NISCH):c.2675G>A (p.Arg892His)	NISCH (R892H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200221	NM_007184.4(NISCH):c.2713G>A (p.Ala905Thr)	NISCH (A905T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653886	NM_007184.4(NISCH):c.2715C>T (p.Ala905=)	NISCH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2291483	NM_007184.4(NISCH):c.2716A>C (p.Ile906Leu)	NISCH (I906L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200222	NM_007184.4(NISCH):c.2788C>T (p.Arg930Cys)	NISCH (R930C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770528	NM_007184.4(NISCH):c.2789G>A (p.Arg930His)	NISCH (R930H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3299831	NM_007184.4(NISCH):c.2926G>A (p.Val976Met)	NISCH (V976M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307892	NM_007184.4(NISCH):c.2976C>G (p.Phe992Leu)	NISCH (F992L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299838	NM_007184.4(NISCH):c.3011C>T (p.Ser1004Leu)	NISCH (S1004L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492568	NM_007184.4(NISCH):c.3044A>G (p.Lys1015Arg)	NISCH (K1015R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200223	NM_007184.4(NISCH):c.3047C>T (p.Thr1016Ile)	NISCH (T1016I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607178	NM_007184.4(NISCH):c.3047C>A (p.Thr1016Asn)	NISCH (T1016N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776468	NM_007184.4(NISCH):c.3083C>T (p.Ala1028Val)	NISCH (A1028V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3200224	NM_007184.4(NISCH):c.3100G>A (p.Glu1034Lys)	NISCH (E1034K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610495	NM_007184.4(NISCH):c.3125G>A (p.Arg1042His)	NISCH (R1042H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200225	NM_007184.4(NISCH):c.3158C>T (p.Pro1053Leu)	NISCH (P1053L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457114	NM_007184.4(NISCH):c.3176C>T (p.Pro1059Leu)	NISCH (P1059L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200226	NM_007184.4(NISCH):c.3194C>T (p.Ala1065Val)	NISCH (A1065V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200227	NM_007184.4(NISCH):c.3269C>T (p.Thr1090Met)	NISCH (T1090M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299827	NM_007184.4(NISCH):c.3277G>C (p.Glu1093Gln)	NISCH (E1093Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471483	NM_007184.4(NISCH):c.3320C>T (p.Pro1107Leu)	NISCH (P1107L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200228	NM_007184.4(NISCH):c.3368C>T (p.Ser1123Leu)	NISCH (S1123L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410137	NM_007184.4(NISCH):c.3395G>A (p.Arg1132Gln)	NISCH (R1132Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2389339	NM_007184.4(NISCH):c.3397C>T (p.His1133Tyr)	NISCH (H1133Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400123	NM_007184.4(NISCH):c.3421G>A (p.Ala1141Thr)	NISCH (A1141T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200229	NM_007184.4(NISCH):c.3430G>A (p.Glu1144Lys)	NISCH (E1144K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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