ClinVar for Gene (Select 23247) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367873	NM_015202.5(KATNIP):c.2161G>T (p.Val721Leu)	KATNIP (V721L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362825	NM_015202.5(KATNIP):c.4394_4395del (p.Val1465fs)	KATNIP (V1465fs)	Deletion (frameshift variant)	Joubert syndrome 26	GLikely pathogenic
Select item 3362178	NM_015202.5(KATNIP):c.3449T>C (p.Leu1150Pro)	KATNIP (L1150P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3356395	NM_015202.5(KATNIP):c.3245G>A (p.Arg1082Gln)	KATNIP (R1082Q)	Single nucleotide variant (missense variant)	KATNIP-related disorder	GUncertain significance
Select item 3352826	NM_015202.5(KATNIP):c.576A>G (p.Leu192=)	KATNIP	Single nucleotide variant (synonymous variant)	KATNIP-related disorder	GLikely benign
Select item 3351905	NM_015202.5(KATNIP):c.4566C>T (p.Asp1522=)	KATNIP	Single nucleotide variant (synonymous variant)	KATNIP-related disorder	GLikely benign
Select item 3341879	NM_015202.5(KATNIP):c.243A>G (p.Lys81=)	KATNIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3337194	NM_015202.5(KATNIP):c.3397C>G (p.Leu1133Val)	KATNIP (L1133V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3287423	NM_015202.5(KATNIP):c.1622C>A (p.Ser541Tyr)	KATNIP (S541Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287422	NM_015202.5(KATNIP):c.4030T>A (p.Phe1344Ile)	KATNIP, LOC126862323 (F1344I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287421	NM_015202.5(KATNIP):c.2503A>C (p.Ser835Arg)	KATNIP (S835R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287420	NM_015202.5(KATNIP):c.2425C>T (p.Arg809Trp)	KATNIP (R809W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287419	NM_015202.5(KATNIP):c.1585C>T (p.Leu529Phe)	KATNIP, LOC100128079 (L529F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3287418	NM_015202.5(KATNIP):c.3110G>A (p.Gly1037Glu)	KATNIP (G1037E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287417	NM_015202.5(KATNIP):c.1519A>G (p.Lys507Glu)	KATNIP, LOC100128079 (K507E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3287416	NM_015202.5(KATNIP):c.3208G>A (p.Val1070Ile)	KATNIP (V1070I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257423	NM_015202.5(KATNIP):c.1852C>T (p.Leu618=)	KATNIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3257142	NM_015202.5(KATNIP):c.2103G>C (p.Leu701=)	KATNIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3251831	NM_015202.5(KATNIP):c.19C>T (p.Arg7Ter)	KATNIP (R7*)	Single nucleotide variant (nonsense)	Joubert syndrome 26	GPathogenic
Select item 3243650	NC_000016.9:g.(?_27659905)_(27689337_?)del	KATNIP	Deletion	not provided	GPathogenic
Select item 3243648	NC_000016.9:g.(?_27585202)_(27585297_?)del	KATNIP	Deletion	not provided	GPathogenic
Select item 3242074	NM_015202.5(KATNIP):c.654_655insA (p.Asp219fs)	KATNIP (D219fs)	Insertion (frameshift variant)	Joubert syndrome 26	GLikely pathogenic
Select item 3233461	NC_000016.9:g.(27561499_27585221)_(27585278_27629745)del	KATNIP	Deletion	Joubert syndrome 26	GPathogenic
Select item 3112905	NM_015202.5(KATNIP):c.797C>G (p.Pro266Arg)	KATNIP (P266R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112904	NM_015202.5(KATNIP):c.70G>A (p.Ala24Thr)	KATNIP (A24T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3112902	NM_015202.5(KATNIP):c.532C>T (p.Arg178Cys)	KATNIP (R178C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112901	NM_015202.5(KATNIP):c.518A>G (p.Asn173Ser)	KATNIP (N173S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112900	NM_015202.5(KATNIP):c.4777C>T (p.Arg1593Trp)	KATNIP (R1593W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112898	NM_015202.5(KATNIP):c.46T>G (p.Ser16Ala)	KATNIP (S16A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112897	NM_015202.5(KATNIP):c.4399G>C (p.Asp1467His)	KATNIP (D1467H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112896	NM_015202.5(KATNIP):c.4253T>G (p.Leu1418Arg)	KATNIP (L1418R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112895	NM_015202.5(KATNIP):c.4243del (p.Tyr1415fs)	KATNIP (Y1415fs)	Deletion (frameshift variant)	not specified	GPathogenic
Select item 3112894	NM_015202.5(KATNIP):c.419A>C (p.Gln140Pro)	KATNIP (Q140P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112893	NM_015202.5(KATNIP):c.3988C>G (p.His1330Asp)	KATNIP, LOC126862323 (H1330D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112892	NM_015202.5(KATNIP):c.3974G>A (p.Gly1325Glu)	KATNIP (G1325E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112891	NM_015202.5(KATNIP):c.3958G>A (p.Glu1320Lys)	KATNIP (E1320K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112890	NM_015202.5(KATNIP):c.3935T>C (p.Phe1312Ser)	KATNIP (F1312S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112889	NM_015202.5(KATNIP):c.392G>A (p.Arg131His)	KATNIP (R131H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112888	NM_015202.5(KATNIP):c.3917G>A (p.Ser1306Asn)	KATNIP (S1306N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112887	NM_015202.5(KATNIP):c.3897C>G (p.Ile1299Met)	KATNIP (I1299M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112886	NM_015202.5(KATNIP):c.3738C>A (p.His1246Gln)	KATNIP (H1246Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112885	NM_015202.5(KATNIP):c.3616A>G (p.Ile1206Val)	KATNIP (I1206V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3112884	NM_015202.5(KATNIP):c.3557C>T (p.Pro1186Leu)	KATNIP (P1186L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112883	NM_015202.5(KATNIP):c.3551G>A (p.Arg1184Gln)	KATNIP (R1184Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3112882	NM_015202.5(KATNIP):c.3535T>G (p.Leu1179Val)	KATNIP (L1179V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112881	NM_015202.5(KATNIP):c.3508G>A (p.Asp1170Asn)	KATNIP (D1170N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112880	NM_015202.5(KATNIP):c.3502G>A (p.Glu1168Lys)	KATNIP (E1168K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112879	NM_015202.5(KATNIP):c.3489C>G (p.Ser1163Arg)	KATNIP (S1163R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112878	NM_015202.5(KATNIP):c.3379A>G (p.Thr1127Ala)	KATNIP (T1127A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112877	NM_015202.5(KATNIP):c.3260G>A (p.Arg1087Gln)	KATNIP (R1087Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112876	NM_015202.5(KATNIP):c.3166A>G (p.Arg1056Gly)	KATNIP (R1056G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112875	NM_015202.5(KATNIP):c.3160C>T (p.Arg1054Trp)	KATNIP (R1054W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112874	NM_015202.5(KATNIP):c.3139G>A (p.Val1047Ile)	KATNIP (V1047I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112873	NM_015202.5(KATNIP):c.3133A>G (p.Met1045Val)	KATNIP (M1045V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112872	NM_015202.5(KATNIP):c.3088G>A (p.Val1030Met)	KATNIP (V1030M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112871	NM_015202.5(KATNIP):c.3059T>C (p.Ile1020Thr)	KATNIP (I1020T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112870	NM_015202.5(KATNIP):c.2967C>G (p.His989Gln)	KATNIP (H989Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112869	NM_015202.5(KATNIP):c.2927G>A (p.Arg976His)	KATNIP (R976H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3112868	NM_015202.5(KATNIP):c.2819C>T (p.Pro940Leu)	KATNIP (P940L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112867	NM_015202.5(KATNIP):c.2748C>G (p.Asn916Lys)	KATNIP (N916K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112866	NM_015202.5(KATNIP):c.2740A>G (p.Ile914Val)	KATNIP (I914V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112864	NM_015202.5(KATNIP):c.2660G>C (p.Arg887Thr)	KATNIP (R887T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112863	NM_015202.5(KATNIP):c.2556T>A (p.Ser852Arg)	KATNIP (S852R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112862	NM_015202.5(KATNIP):c.2453G>A (p.Arg818Gln)	KATNIP (R818Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112861	NM_015202.5(KATNIP):c.2404G>A (p.Glu802Lys)	KATNIP (E802K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112860	NM_015202.5(KATNIP):c.2383G>A (p.Gly795Ser)	KATNIP (G795S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112859	NM_015202.5(KATNIP):c.2380A>G (p.Ile794Val)	KATNIP (I794V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112858	NM_015202.5(KATNIP):c.2374G>A (p.Asp792Asn)	KATNIP (D792N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112857	NM_015202.5(KATNIP):c.2311C>T (p.Pro771Ser)	KATNIP (P771S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3112856	NM_015202.5(KATNIP):c.2265A>C (p.Leu755Phe)	KATNIP (L755F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112855	NM_015202.5(KATNIP):c.2245G>A (p.Gly749Arg)	KATNIP (G749R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112854	NM_015202.5(KATNIP):c.2220G>A (p.Met740Ile)	KATNIP (M740I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112853	NM_015202.5(KATNIP):c.2218A>G (p.Met740Val)	KATNIP (M740V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112852	NM_015202.5(KATNIP):c.2213A>C (p.Asn738Thr)	KATNIP (N738T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112851	NM_015202.5(KATNIP):c.2189C>T (p.Pro730Leu)	KATNIP (P730L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3112850	NM_015202.5(KATNIP):c.2139T>A (p.Ser713Arg)	KATNIP (S713R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112849	NM_015202.5(KATNIP):c.2027A>G (p.Asn676Ser)	KATNIP (N676S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112848	NM_015202.5(KATNIP):c.2002G>T (p.Asp668Tyr)	KATNIP (D668Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112847	NM_015202.5(KATNIP):c.2000C>T (p.Ala667Val)	KATNIP (A667V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3112846	NM_015202.5(KATNIP):c.2000C>G (p.Ala667Gly)	KATNIP (A667G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112845	NM_015202.5(KATNIP):c.1932T>G (p.His644Gln)	KATNIP (H644Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112844	NM_015202.5(KATNIP):c.1721G>A (p.Arg574Gln)	KATNIP (R574Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112843	NM_015202.5(KATNIP):c.1709A>G (p.Lys570Arg)	KATNIP (K570R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112842	NM_015202.5(KATNIP):c.1651C>G (p.Leu551Val)	KATNIP (L551V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112841	NM_015202.5(KATNIP):c.1642C>T (p.His548Tyr)	KATNIP (H548Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112840	NM_015202.5(KATNIP):c.1611G>C (p.Lys537Asn)	KATNIP (K537N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112839	NM_015202.5(KATNIP):c.1552C>T (p.Arg518Trp)	KATNIP, LOC100128079 (R518W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3112838	NM_015202.5(KATNIP):c.1506C>G (p.Asp502Glu)	KATNIP, LOC100128079 (D502E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3112837	NM_015202.5(KATNIP):c.1414G>A (p.Glu472Lys)	KATNIP, LOC100128079 (E472K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3112836	NM_015202.5(KATNIP):c.1222G>A (p.Gly408Arg)	KATNIP (G408R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3112835	NM_015202.5(KATNIP):c.1217C>T (p.Pro406Leu)	KATNIP (P406L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112834	NM_015202.5(KATNIP):c.1090G>A (p.Glu364Lys)	KATNIP (E364K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067454	NM_015202.5(KATNIP):c.1053C>T (p.Asn351=)	KATNIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3065702	NM_015202.5(KATNIP):c.3151C>A (p.Pro1051Thr)	KATNIP (P1051T)	Single nucleotide variant (missense variant)	Joubert syndrome 26	GUncertain significance
Select item 3058500	NM_015202.5(KATNIP):c.3777C>T (p.Pro1259=)	KATNIP	Single nucleotide variant (synonymous variant)	KATNIP-related disorder	GLikely benign
Select item 3053031	NM_015202.5(KATNIP):c.3066A>G (p.Pro1022=)	KATNIP	Single nucleotide variant (synonymous variant)	KATNIP-related disorder	GLikely benign
Select item 3052942	NM_015202.5(KATNIP):c.4407T>C (p.Ser1469=)	KATNIP	Single nucleotide variant (synonymous variant)	KATNIP-related disorder	GLikely benign
Select item 3043602	NM_015202.5(KATNIP):c.4801+3C>T	KATNIP	Single nucleotide variant (intron variant)	KATNIP-related disorder	GLikely benign
Select item 3036283	NM_015202.5(KATNIP):c.395G>A (p.Arg132Gln)	KATNIP (R132Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031899	NM_015202.5(KATNIP):c.420G>A (p.Gln140=)	KATNIP	Single nucleotide variant (synonymous variant)	KATNIP-related disorder	GLikely benign

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