ClinVar for Gene (Select 8204) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 297

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367024	NM_003489.4(NRIP1):c.3439C>G (p.Leu1147Val)	NRIP1 (L1147V)	Single nucleotide variant (missense variant)	Congenital anomalies of kidney and urinary tract 3	GUncertain significance
Select item 3346757	NM_003489.4(NRIP1):c.2184dup (p.Glu729fs)	NRIP1 (E729fs)	Duplication (frameshift variant)	NRIP1-related disorder	GUncertain significance
Select item 3346626	NM_003489.4(NRIP1):c.1231C>G (p.Pro411Ala)	NRIP1 (P411A)	Single nucleotide variant (missense variant)	NRIP1-related disorder	GUncertain significance
Select item 3345037	NM_003489.4(NRIP1):c.1203A>C (p.Arg401Ser)	NRIP1 (R401S)	Single nucleotide variant (missense variant)	NRIP1-related disorder	GUncertain significance
Select item 3301050	NM_003489.4(NRIP1):c.376G>A (p.Gly126Ser)	NRIP1 (G126S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301049	NM_003489.4(NRIP1):c.1823C>T (p.Pro608Leu)	NRIP1 (P608L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301048	NM_003489.4(NRIP1):c.2894A>C (p.His965Pro)	NRIP1 (H965P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301047	NM_003489.4(NRIP1):c.1241T>C (p.Ile414Thr)	NRIP1 (I414T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301046	NM_003489.4(NRIP1):c.3105G>A (p.Met1035Ile)	NRIP1 (M1035I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301045	NM_003489.4(NRIP1):c.2562G>C (p.Met854Ile)	NRIP1 (M854I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301044	NM_003489.4(NRIP1):c.664G>A (p.Val222Ile)	NRIP1 (V222I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301042	NM_003489.4(NRIP1):c.674G>A (p.Ser225Asn)	NRIP1 (S225N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301041	NM_003489.4(NRIP1):c.2995A>G (p.Thr999Ala)	NRIP1 (T999A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301040	NM_003489.4(NRIP1):c.2465T>C (p.Leu822Ser)	NRIP1 (L822S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301039	NM_003489.4(NRIP1):c.2509A>G (p.Arg837Gly)	NRIP1 (R837G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301038	NM_003489.4(NRIP1):c.562T>G (p.Leu188Val)	NRIP1 (L188V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3248182	NC_000021.8:g.(?_15481314)_(16364756_?)dup	HSPA13, LIPI +3 more	Duplication	not provided	GUncertain significance
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not provided	GPathogenic
Select item 3236105	NM_003489.4(NRIP1):c.739G>A (p.Val247Met)	NRIP1 (V247M)	Single nucleotide variant (missense variant)	Congenital anomalies of kidney and urinary tract 3	GUncertain significance
Select item 3202144	NM_003489.4(NRIP1):c.836A>G (p.Tyr279Cys)	NRIP1 (Y279C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202143	NM_003489.4(NRIP1):c.747A>C (p.Lys249Asn)	NRIP1 (K249N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202142	NM_003489.4(NRIP1):c.680C>T (p.Thr227Ile)	NRIP1 (T227I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202140	NM_003489.4(NRIP1):c.355A>T (p.Met119Leu)	NRIP1 (M119L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202139	NM_003489.4(NRIP1):c.3401C>T (p.Ser1134Phe)	NRIP1 (S1134F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202138	NM_003489.4(NRIP1):c.2856C>G (p.His952Gln)	NRIP1 (H952Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202137	NM_003489.4(NRIP1):c.2692G>A (p.Glu898Lys)	NRIP1 (E898K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202136	NM_003489.4(NRIP1):c.2629A>G (p.Ile877Val)	NRIP1 (I877V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3202134	NM_003489.4(NRIP1):c.2354C>T (p.Ala785Val)	NRIP1 (A785V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202133	NM_003489.4(NRIP1):c.2290C>A (p.Gln764Lys)	NRIP1 (Q764K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202132	NM_003489.4(NRIP1):c.199G>T (p.Val67Phe)	NRIP1 (V67F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202131	NM_003489.4(NRIP1):c.1894C>A (p.Gln632Lys)	NRIP1 (Q632K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202130	NM_003489.4(NRIP1):c.1792C>T (p.His598Tyr)	NRIP1 (H598Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202129	NM_003489.4(NRIP1):c.1685C>T (p.Ala562Val)	NRIP1 (A562V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202127	NM_003489.4(NRIP1):c.1393C>G (p.Gln465Glu)	NRIP1 (Q465E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202126	NM_003489.4(NRIP1):c.1046C>G (p.Pro349Arg)	NRIP1 (P349R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062432	GRCh37/hg19 21q11.2-21.1(chr21:16345630-17124279)x3	NRIP1, USP25	Copy number gain	not specified	GUncertain significance
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3061374	NM_003489.4(NRIP1):c.588T>A (p.Asp196Glu)	NRIP1 (D196E)	Single nucleotide variant (missense variant)	NRIP1-related disorder	GUncertain significance
Select item 3053623	NM_003489.4(NRIP1):c.1845A>G (p.Gln615=)	NRIP1	Single nucleotide variant (synonymous variant)	NRIP1-related disorder	GLikely benign
Select item 3053171	NM_003489.4(NRIP1):c.2705T>G (p.Phe902Cys)	NRIP1 (F902C)	Single nucleotide variant (missense variant)	NRIP1-related disorder	GLikely benign
Select item 3052614	NM_003489.4(NRIP1):c.2658C>G (p.Ala886=)	NRIP1	Single nucleotide variant (synonymous variant)	NRIP1-related disorder	GLikely benign
Select item 3051121	NM_003489.4(NRIP1):c.1541A>G (p.Glu514Gly)	NRIP1 (E514G)	Single nucleotide variant (missense variant)	NRIP1-related disorder	GLikely benign
Select item 3049521	NM_003489.4(NRIP1):c.2454G>A (p.Leu818=)	NRIP1	Single nucleotide variant (synonymous variant)	NRIP1-related disorder	GLikely benign
Select item 3049192	NM_003489.4(NRIP1):c.425C>G (p.Ser142Cys)	NRIP1 (S142C)	Single nucleotide variant (missense variant)	NRIP1-related disorder	GUncertain significance
Select item 3047205	NM_003489.4(NRIP1):c.861G>A (p.Thr287=)	NRIP1	Single nucleotide variant (synonymous variant)	NRIP1-related disorder	GLikely benign
Select item 3047101	NM_003489.4(NRIP1):c.3210C>T (p.Tyr1070=)	NRIP1	Single nucleotide variant (synonymous variant)	NRIP1-related disorder	GLikely benign
Select item 3043163	NM_003489.4(NRIP1):c.-7A>G	NRIP1	Single nucleotide variant (5 prime UTR variant)	NRIP1-related disorder	GLikely benign
Select item 3031436	NM_003489.4(NRIP1):c.2335G>T (p.Ala779Ser)	NRIP1 (A779S)	Single nucleotide variant (missense variant)	NRIP1-related disorder	GUncertain significance
Select item 3030792	NM_003489.4(NRIP1):c.3448G>A (p.Val1150Met)	NRIP1 (V1150M)	Single nucleotide variant (missense variant)	NRIP1-related disorder	GUncertain significance
Select item 3023195	NM_003489.4(NRIP1):c.3147G>A (p.Ala1049=)	NRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017561	NM_003489.4(NRIP1):c.2186A>G (p.Glu729Gly)	NRIP1 (E729G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013797	NM_003489.4(NRIP1):c.180C>T (p.Thr60=)	NRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011270	NM_003489.4(NRIP1):c.3158A>C (p.Glu1053Ala)	NRIP1 (E1053A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990469	NM_003489.4(NRIP1):c.1536T>C (p.Asn512=)	NRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990280	NM_003489.4(NRIP1):c.1872G>A (p.Thr624=)	NRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979814	NM_003489.4(NRIP1):c.188G>A (p.Ser63Asn)	NRIP1 (S63N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962321	NM_003489.4(NRIP1):c.2834G>C (p.Cys945Ser)	NRIP1 (C945S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962133	NM_003489.4(NRIP1):c.849C>T (p.His283=)	NRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2916279	NM_003489.4(NRIP1):c.2229G>A (p.Glu743=)	NRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2912927	NM_003489.4(NRIP1):c.2374G>A (p.Ala792Thr)	NRIP1 (A792T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2904756	NM_003489.4(NRIP1):c.3443G>A (p.Gly1148Glu)	NRIP1 (G1148E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2899468	NM_003489.4(NRIP1):c.358G>T (p.Val120Phe)	NRIP1 (V120F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896918	NM_003489.4(NRIP1):c.1406A>G (p.Asn469Ser)	NRIP1 (N469S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2888164	NM_003489.4(NRIP1):c.584A>G (p.Lys195Arg)	NRIP1 (K195R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2885158	NM_003489.4(NRIP1):c.1749C>G (p.Val583=)	NRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883863	NM_003489.4(NRIP1):c.494G>A (p.Ser165Asn)	NRIP1 (S165N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2882044	NM_003489.4(NRIP1):c.1479C>T (p.Asn493=)	NRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875432	NM_003489.4(NRIP1):c.1932A>C (p.Ser644=)	NRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2806846	NM_003489.4(NRIP1):c.2698C>T (p.Leu900=)	NRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2797657	NM_003489.4(NRIP1):c.2343C>T (p.Phe781=)	NRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2797338	NM_003489.4(NRIP1):c.670C>G (p.Gln224Glu)	NRIP1 (Q224E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2782439	NM_003489.4(NRIP1):c.268T>A (p.Ser90Thr)	NRIP1 (S90T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2765400	NM_003489.4(NRIP1):c.3313A>G (p.Lys1105Glu)	NRIP1 (K1105E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2764483	NM_003489.4(NRIP1):c.2220A>G (p.Glu740=)	NRIP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2764482	NM_003489.4(NRIP1):c.3330T>C (p.Pro1110=)	NRIP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2758969	NM_003489.4(NRIP1):c.2257G>C (p.Val753Leu)	NRIP1 (V753L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2756827	NM_003489.4(NRIP1):c.2157C>G (p.Asn719Lys)	NRIP1 (N719K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2749615	NM_003489.4(NRIP1):c.1372G>A (p.Val458Ile)	NRIP1 (V458I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2744834	NM_003489.4(NRIP1):c.1556C>T (p.Pro519Leu)	NRIP1 (P519L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2732283	NM_003489.4(NRIP1):c.699G>C (p.Pro233=)	NRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2723211	NM_003489.4(NRIP1):c.129G>T (p.Gly43=)	NRIP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2713763	NM_003489.4(NRIP1):c.3426A>G (p.Glu1142=)	NRIP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2706648	NM_003489.4(NRIP1):c.2840G>A (p.Arg947Gln)	NRIP1 (R947Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2702753	NM_003489.4(NRIP1):c.2201G>A (p.Arg734Lys)	NRIP1 (R734K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2702752	NM_003489.4(NRIP1):c.3235G>T (p.Val1079Phe)	NRIP1 (V1079F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2701586	NM_003489.4(NRIP1):c.2965A>T (p.Thr989Ser)	NRIP1 (T989S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685655	GRCh37/hg19 21q11.2-21.1(chr21:15006458-19950207)x1	BTG3, C21orf91 +13 more	Copy number loss	not provided	GUncertain significance
Select item 2684910	GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	CLDN14, CLDN17 +170 more	Copy number gain	not provided	GPathogenic
Select item 2681447	NM_003489.4(NRIP1):c.2184del (p.Glu729fs)	NRIP1 (E729fs)	Deletion (frameshift variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2672887	NM_003489.4(NRIP1):c.1810A>G (p.Lys604Glu)	NRIP1 (K604E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2652572	NM_003489.4(NRIP1):c.477G>A (p.Glu159=)	NRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652571	NM_003489.4(NRIP1):c.762C>T (p.Ala254=)	NRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652570	NM_003489.4(NRIP1):c.1308C>G (p.Ser436=)	NRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652569	NM_003489.4(NRIP1):c.2776T>C (p.Trp926Arg)	NRIP1 (W926R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2636783	NM_003489.4(NRIP1):c.1727A>G (p.Lys576Arg)	NRIP1 (K576R)	Single nucleotide variant (missense variant)	NRIP1-related disorder	GUncertain significance
Select item 2635686	NM_003489.4(NRIP1):c.1370C>A (p.Pro457His)	NRIP1 (P457H)	Single nucleotide variant (missense variant)	NRIP1-related disorder	GUncertain significance
Select item 2634992	NM_003489.4(NRIP1):c.2230_2233del (p.Arg744fs)	NRIP1 (R744fs)	Microsatellite (frameshift variant)	NRIP1-related disorder	GUncertain significance
Select item 2632931	NM_003489.4(NRIP1):c.1011G>A (p.Met337Ile)	NRIP1 (M337I)	Single nucleotide variant (missense variant)	NRIP1-related disorder	GUncertain significance
Select item 2632447	NM_003489.4(NRIP1):c.453A>G (p.Gln151=)	NRIP1	Single nucleotide variant (synonymous variant)	NRIP1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2630356	NM_003489.4(NRIP1):c.1079C>T (p.Ala360Val)	NRIP1 (A360V)	Single nucleotide variant (missense variant)	NRIP1-related disorder	GUncertain significance

<< First< Prev

Page of 3