ClinVar for Gene (Select 80223) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3312057	NM_001002814.3(RAB11FIP1):c.3248C>G (p.Pro1083Arg)	RAB11FIP1 (P1083R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312056	NM_001002814.3(RAB11FIP1):c.533A>G (p.Lys178Arg)	RAB11FIP1 (K178R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312055	NM_001002814.3(RAB11FIP1):c.2194C>T (p.Leu732Phe)	RAB11FIP1 (L732F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312054	NM_001002814.3(RAB11FIP1):c.1623A>G (p.Arg541=)	RAB11FIP1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3312053	NM_001002814.3(RAB11FIP1):c.3668C>T (p.Ala1223Val)	RAB11FIP1 (A1223V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312052	NM_001002814.3(RAB11FIP1):c.2131T>C (p.Cys711Arg)	RAB11FIP1 (C711R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312051	NM_001002814.3(RAB11FIP1):c.2818G>C (p.Asp940His)	RAB11FIP1 (D940H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312050	NM_001002814.3(RAB11FIP1):c.598G>T (p.Val200Phe)	RAB11FIP1 (V200F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312049	NM_001002814.3(RAB11FIP1):c.476A>T (p.Asp159Val)	RAB11FIP1 (D159V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312048	NM_001002814.3(RAB11FIP1):c.1243G>A (p.Ala415Thr)	RAB11FIP1 (A415T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312046	NM_001002814.3(RAB11FIP1):c.2062G>A (p.Glu688Lys)	RAB11FIP1 (E688K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312045	NM_001002814.3(RAB11FIP1):c.803C>T (p.Ser268Leu)	RAB11FIP1 (S268L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312044	NM_001002814.3(RAB11FIP1):c.3148G>A (p.Gly1050Arg)	RAB11FIP1 (G1050R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312043	NM_001002814.3(RAB11FIP1):c.2652C>G (p.His884Gln)	RAB11FIP1 (H884Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150555	NM_001002814.3(RAB11FIP1):c.626A>G (p.Lys209Arg)	RAB11FIP1 (K209R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150554	NM_001002814.3(RAB11FIP1):c.563C>T (p.Thr188Ile)	RAB11FIP1 (T188I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150553	NM_001002814.3(RAB11FIP1):c.3811C>T (p.Arg1271Cys)	RAB11FIP1 (R637C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150552	NM_001002814.3(RAB11FIP1):c.372G>A (p.Gln124=)	RAB11FIP1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3150551	NM_001002814.3(RAB11FIP1):c.3499G>A (p.Ala1167Thr)	RAB11FIP1 (A1167T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150550	NM_001002814.3(RAB11FIP1):c.3308T>A (p.Ile1103Asn)	RAB11FIP1 (I1103N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150548	NM_001002814.3(RAB11FIP1):c.3298C>A (p.Pro1100Thr)	RAB11FIP1 (P1100T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150547	NM_001002814.3(RAB11FIP1):c.2900C>T (p.Ser967Leu)	RAB11FIP1 (S967L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150545	NM_001002814.3(RAB11FIP1):c.2732T>C (p.Phe911Ser)	RAB11FIP1 (F911S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150544	NM_001002814.3(RAB11FIP1):c.2621C>T (p.Thr874Met)	RAB11FIP1 (T874M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150543	NM_001002814.3(RAB11FIP1):c.2570C>T (p.Pro857Leu)	RAB11FIP1 (P857L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150542	NM_001002814.3(RAB11FIP1):c.2423G>A (p.Arg808His)	RAB11FIP1 (R808H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150541	NM_001002814.3(RAB11FIP1):c.2315C>T (p.Ala772Val)	RAB11FIP1 (A772V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3150540	NM_001002814.3(RAB11FIP1):c.2222T>C (p.Val741Ala)	RAB11FIP1 (V741A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3150539	NM_001002814.3(RAB11FIP1):c.2108A>G (p.Glu703Gly)	RAB11FIP1 (E703G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150537	NM_001002814.3(RAB11FIP1):c.1940C>T (p.Ser647Phe)	RAB11FIP1 (S647F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150536	NM_001002814.3(RAB11FIP1):c.1453A>G (p.Arg485Gly)	RAB11FIP1 (R485G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150535	NM_001002814.3(RAB11FIP1):c.1425C>G (p.Asp475Glu)	RAB11FIP1 (D475E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150534	NM_001002814.3(RAB11FIP1):c.1415C>T (p.Pro472Leu)	RAB11FIP1 (P472L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150533	NM_001002814.3(RAB11FIP1):c.1293C>G (p.Ser431Arg)	RAB11FIP1 (S431R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2658539	NM_001002814.3(RAB11FIP1):c.3633+29G>A	RAB11FIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2618872	NM_001002814.3(RAB11FIP1):c.3187G>A (p.Asp1063Asn)	RAB11FIP1 (D1063N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617797	NM_001002814.3(RAB11FIP1):c.1360A>G (p.Asn454Asp)	RAB11FIP1 (N454D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610322	NM_001002814.3(RAB11FIP1):c.3559A>T (p.Thr1187Ser)	RAB11FIP1 (T1187S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600672	NM_001002814.3(RAB11FIP1):c.2972C>T (p.Ser991Leu)	RAB11FIP1 (S991L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2598313	NM_001002814.3(RAB11FIP1):c.1255G>A (p.Ala419Thr)	RAB11FIP1 (A419T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580355	GRCh37/hg19 8p11.23-q11.21(chr8:36763176-50929707)x3	NKX6-3, PPDPFL +64 more	Copy number gain	See cases	GPathogenic
Select item 2579179	GRCh38/hg38 8p11.23-11.22(chr8:37814644-38528889)x1	ADGRA2, ADRB3 +53 more	Copy number loss	Hypogonadotropic hypogonadism 2 with or without anosmia	GPathogenic
Select item 2559835	NM_001002814.3(RAB11FIP1):c.928G>A (p.Asp310Asn)	RAB11FIP1 (D310N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536441	NM_001002814.3(RAB11FIP1):c.3506C>G (p.Thr1169Ser)	RAB11FIP1 (T1169S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522819	NM_001002814.3(RAB11FIP1):c.2896G>A (p.Ala966Thr)	RAB11FIP1 (A966T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512310	NM_001002814.3(RAB11FIP1):c.2845T>C (p.Ser949Pro)	RAB11FIP1 (S949P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510851	NM_001002814.3(RAB11FIP1):c.1667C>A (p.Ser556Tyr)	RAB11FIP1 (S556Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492519	NM_001002814.3(RAB11FIP1):c.1034C>T (p.Ser345Phe)	RAB11FIP1 (S345F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488213	NM_001002814.3(RAB11FIP1):c.2272T>G (p.Ser758Ala)	RAB11FIP1 (S758A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478477	NM_001002814.3(RAB11FIP1):c.1891C>T (p.Leu631Phe)	RAB11FIP1 (L631F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465914	NM_001002814.3(RAB11FIP1):c.3049G>A (p.Glu1017Lys)	RAB11FIP1 (E1017K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2457124	NM_001002814.3(RAB11FIP1):c.2542G>A (p.Ala848Thr)	RAB11FIP1 (A848T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455991	NM_001002814.3(RAB11FIP1):c.2003A>G (p.Glu668Gly)	RAB11FIP1 (E668G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455002	NM_001002814.3(RAB11FIP1):c.940C>T (p.Arg314Cys)	RAB11FIP1 (R314C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425692	NC_000008.10:g.(?_37595441)_(38961219_?)dup	ADAM9, ADGRA2 +21 more	Duplication	Spastic paraplegia +3 more	GUncertain significance
Select item 2411090	NM_001002814.3(RAB11FIP1):c.492C>G (p.Asp164Glu)	RAB11FIP1 (D164E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405129	NM_001002814.3(RAB11FIP1):c.1928C>T (p.Pro643Leu)	RAB11FIP1 (P643L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404820	NM_001002814.3(RAB11FIP1):c.3112T>C (p.Ser1038Pro)	RAB11FIP1 (S1038P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404738	NM_001002814.3(RAB11FIP1):c.3653C>A (p.Pro1218His)	RAB11FIP1 (P1218H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404208	NM_001002814.3(RAB11FIP1):c.3365G>A (p.Ser1122Asn)	RAB11FIP1 (S1122N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398958	NM_001002814.3(RAB11FIP1):c.1643C>T (p.Ala548Val)	RAB11FIP1 (A548V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379461	NM_001002814.3(RAB11FIP1):c.3406G>A (p.Ala1136Thr)	RAB11FIP1 (A1136T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370567	NM_001002814.3(RAB11FIP1):c.3821C>G (p.Thr1274Ser)	RAB11FIP1 (T1274S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365470	NM_001002814.3(RAB11FIP1):c.3230C>T (p.Pro1077Leu)	RAB11FIP1 (P1077L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2363468	NM_001002814.3(RAB11FIP1):c.2776A>G (p.Lys926Glu)	RAB11FIP1 (K926E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361680	NM_001002814.3(RAB11FIP1):c.373T>C (p.Trp125Arg)	RAB11FIP1 (W125R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361527	NM_001002814.3(RAB11FIP1):c.167T>C (p.Val56Ala)	LOC130000213, RAB11FIP1 (V56A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353176	NM_001002814.3(RAB11FIP1):c.2860G>A (p.Asp954Asn)	RAB11FIP1 (D954N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343275	NM_001002814.3(RAB11FIP1):c.3647C>T (p.Ser1216Leu)	RAB11FIP1 (S582L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333418	NM_001002814.3(RAB11FIP1):c.2962A>C (p.Thr988Pro)	RAB11FIP1 (T988P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331763	NM_001002814.3(RAB11FIP1):c.1210G>T (p.Val404Phe)	RAB11FIP1 (V404F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331401	NM_001002814.3(RAB11FIP1):c.1030C>G (p.Pro344Ala)	RAB11FIP1 (P344A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325707	NM_001002814.3(RAB11FIP1):c.3787A>G (p.Met1263Val)	RAB11FIP1 (M629V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321836	NM_001002814.3(RAB11FIP1):c.113C>G (p.Thr38Arg)	RAB11FIP1 (T38R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316538	NM_001002814.3(RAB11FIP1):c.407A>G (p.Asp136Gly)	RAB11FIP1 (D136G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312632	NM_001002814.3(RAB11FIP1):c.3292C>T (p.Pro1098Ser)	RAB11FIP1 (P1098S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308924	NM_001002814.3(RAB11FIP1):c.1520A>T (p.Asp507Val)	RAB11FIP1 (D507V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293266	NM_001002814.3(RAB11FIP1):c.229C>A (p.Leu77Met)	LOC130000213, RAB11FIP1 (L77M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292545	NM_001002814.3(RAB11FIP1):c.3467C>T (p.Ser1156Leu)	RAB11FIP1 (S1156L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291811	NM_001002814.3(RAB11FIP1):c.3208A>T (p.Ser1070Cys)	RAB11FIP1 (S1070C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289806	NM_001002814.3(RAB11FIP1):c.1290G>T (p.Glu430Asp)	RAB11FIP1 (E430D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2288184	NM_001002814.3(RAB11FIP1):c.2470G>T (p.Ala824Ser)	RAB11FIP1 (A824S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2285962	NM_001002814.3(RAB11FIP1):c.2842A>G (p.Lys948Glu)	RAB11FIP1 (K948E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278989	NM_001002814.3(RAB11FIP1):c.2018G>A (p.Gly673Asp)	RAB11FIP1 (G673D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273384	NM_001002814.3(RAB11FIP1):c.25C>T (p.Arg9Trp)	RAB11FIP1 (R9W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244182	NM_001002814.3(RAB11FIP1):c.655A>T (p.Thr219Ser)	RAB11FIP1 (T219S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244181	NM_001002814.3(RAB11FIP1):c.109G>T (p.Gly37Cys)	RAB11FIP1 (G37C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242019	NM_001002814.3(RAB11FIP1):c.2107G>A (p.Glu703Lys)	RAB11FIP1 (E703K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233367	NM_001002814.3(RAB11FIP1):c.2524T>C (p.Trp842Arg)	RAB11FIP1 (W842R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231611	NM_001002814.3(RAB11FIP1):c.83G>A (p.Arg28Gln)	RAB11FIP1 (R28Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229808	NM_001002814.3(RAB11FIP1):c.1690C>T (p.Leu564Phe)	RAB11FIP1 (L564F)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign

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