NRIP1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	NCAM2, NDUFV3 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	PDE9A-AS1, PDXK +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	LOC130066843, LOC130066844 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653343, LOC126653344 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	LINC00315, LINC00316 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	ATP5PF, ATP5PO +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653350, LOC126653351 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LINC00111, LINC00112 +1160 more	Copy number gain	See cases	GPathogenic
Select item 149035	GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1	ADAMTS1, ADAMTS5 +643 more	Copy number loss	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	TSPEAR-AS1, TSPEAR-AS2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC130066578, LOC130066579 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	LOC126653316, LOC126653317 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	LOC130066758, LOC130066759 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	LOC130066717, LOC130066718 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC125418051, LOC125418052 +1159 more	Copy number gain	See cases	GPathogenic
Select item 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	ABCG1, ADAMTS1 +884 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	HSF2BP, HSPA13 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LOC130066756, LOC130066757 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	KRTAP12-3, KRTAP12-4 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC107403153, LOC107548109 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SON, SPATC1L +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066735, LOC130066736 +1156 more	Copy number loss	See cases	GPathogenic
Select item 236548	GRCh38/hg38 21p11.2-q21.3(chr21:13048294-27532614)	LOC126653329, LOC130066449 +219 more	Copy number loss	Monosomy 21	GPathogenic
Select item 59220	GRCh38/hg38 21q11.2-21.1(chr21:13076061-19390260)x3	LOC112694734, LOC116309120 +118 more	Copy number gain	See cases	GPathogenic
Select item 59004	GRCh38/hg38 21q11.2-21.3(chr21:13194345-29257208)x1	ADAMTS1, ADAMTS5 +256 more	Copy number loss	See cases	GPathogenic
Select item 153628	GRCh38/hg38 21q11.2-21.1(chr21:13634136-18211199)x1	ASMER1, BTG3 +107 more	Copy number loss	See cases	GPathogenic
Select item 155682	GRCh38/hg38 21q11.2-21.3(chr21:13634137-27862841)x1	ADAMTS1, ADAMTS5 +214 more	Copy number loss	See cases	GPathogenic
Select item 59225	GRCh38/hg38 21q11.2-21.1(chr21:13696993-21440046)x3	ASMER1, BTG3 +129 more	Copy number gain	See cases	GPathogenic
Select item 236549	GRCh38/hg38 21q11.2-21.3(chr21:14000146-27785985)	C21orf91, LOC125387325 +209 more	Copy number loss	Monosomy 21	GPathogenic
Select item 59005	GRCh38/hg38 21q11.2-22.11(chr21:14000720-30903065)x1	ADAMTS1, ADAMTS5 +300 more	Copy number loss	See cases	GPathogenic
Select item 59006	GRCh38/hg38 21q11.2-21.1(chr21:14019847-18125051)x1	ASMER1, BTG3 +101 more	Copy number loss	See cases	GPathogenic
Select item 149825	GRCh38/hg38 21q11.2-21.1(chr21:14112717-21297273)x1	ASMER1, BTG3 +121 more	Copy number loss	See cases	GPathogenic
Select item 59244	GRCh38/hg38 21q11.2-21.1(chr21:14127526-17193289)x3	ASMER1, HSPA13 +69 more	Copy number gain	See cases	GPathogenic
Select item 59007	GRCh38/hg38 21q11.2-21.1(chr21:14127526-19238720)x1	LOC130066445, LOC130066446 +102 more	Copy number loss	See cases	GPathogenic
Select item 1723300	NM_003489.4(NRIP1):c.3465_3468del (p.Lys1155fs)	NRIP1 (K1155fs)	Microsatellite (frameshift variant)	not provided +1 more	GUncertain significance
Select item 2556877	NM_003489.4(NRIP1):c.3465A>T (p.Lys1155Asn)	NRIP1 (K1155N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 734220	NM_003489.4(NRIP1):c.3455C>T (p.Thr1152Met)	NRIP1 (T1152M)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
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 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 1049819	NM_003489.4(NRIP1):c.3430T>G (p.Tyr1144Asp)	NRIP1 (Y1144D)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2713763	NM_003489.4(NRIP1):c.3426A>G (p.Glu1142=)	NRIP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2063809	NM_003489.4(NRIP1):c.3414C>T (p.Ser1138=)	NRIP1	Single nucleotide variant (synonymous variant)	NRIP1-related disorder +1 more	GBenign/Likely benign
Select item 769116	NM_003489.4(NRIP1):c.3412A>G (p.Ser1138Gly)	NRIP1 (S1138G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2414132	NM_003489.4(NRIP1):c.3408A>C (p.Pro1136=)	NRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 774533	NM_003489.4(NRIP1):c.3403C>T (p.Arg1135Cys)	NRIP1 (R1135C)	Single nucleotide variant (missense variant)	not provided	GBenign
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 1921319	NM_003489.4(NRIP1):c.3385A>G (p.Met1129Val)	NRIP1 (M1129V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2394795	NM_003489.4(NRIP1):c.3364A>G (p.Arg1122Gly)	NRIP1 (R1122G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1981189	NM_003489.4(NRIP1):c.3349T>G (p.Ser1117Ala)	NRIP1 (S1117A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2262407	NM_003489.4(NRIP1):c.3338A>C (p.Glu1113Ala)	NRIP1 (E1113A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2764482	NM_003489.4(NRIP1):c.3330T>C (p.Pro1110=)	NRIP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2765400	NM_003489.4(NRIP1):c.3313A>G (p.Lys1105Glu)	NRIP1 (K1105E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 726431	NM_003489.4(NRIP1):c.3303G>C (p.Gln1101His)	NRIP1 (Q1101H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2609099	NM_003489.4(NRIP1):c.3294T>A (p.Ser1098Arg)	NRIP1 (S1098R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2080245	NM_003489.4(NRIP1):c.3287C>G (p.Ala1096Gly)	NRIP1 (A1096G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2330057	NM_003489.4(NRIP1):c.3262G>A (p.Asp1088Asn)	NRIP1 (D1088N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2159986	NM_003489.4(NRIP1):c.3244C>G (p.Arg1082Gly)	NRIP1 (R1082G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2221526	NM_003489.4(NRIP1):c.3239C>T (p.Thr1080Ile)	NRIP1 (T1080I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2702752	NM_003489.4(NRIP1):c.3235G>T (p.Val1079Phe)	NRIP1 (V1079F)	Single nucleotide variant (missense variant)	NRIP1-related disorder +1 more	GConflicting classifications of pathogenicity
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 3011270	NM_003489.4(NRIP1):c.3158A>C (p.Glu1053Ala)	NRIP1 (E1053A)	Single nucleotide variant (missense variant)	not provided	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 2189315	NM_003489.4(NRIP1):c.3123C>G (p.Pro1041=)	NRIP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2545366	NM_003489.4(NRIP1):c.3121C>A (p.Pro1041Thr)	NRIP1 (P1041T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 778899	NM_003489.4(NRIP1):c.3066G>T (p.Gly1022=)	NRIP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778900	NM_003489.4(NRIP1):c.2976C>T (p.Ser992=)	NRIP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1999445	NM_003489.4(NRIP1):c.2957A>G (p.Tyr986Cys)	NRIP1 (Y986C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2389499	NM_003489.4(NRIP1):c.2912A>G (p.Asn971Ser)	NRIP1 (N971S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2470904	NM_003489.4(NRIP1):c.2870T>G (p.Val957Gly)	NRIP1 (V957G)	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 769117	NM_003489.4(NRIP1):c.2853G>A (p.Pro951=)	NRIP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2414973	NM_003489.4(NRIP1):c.2852C>T (p.Pro951Leu)	NRIP1 (P951L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2706648	NM_003489.4(NRIP1):c.2840G>A (p.Arg947Gln)	NRIP1 (R947Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2174610	NM_003489.4(NRIP1):c.2839C>A (p.Arg947=)	NRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2652569	NM_003489.4(NRIP1):c.2776T>C (p.Trp926Arg)	NRIP1 (W926R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2623473	NM_003489.4(NRIP1):c.2758G>A (p.Glu920Lys)	NRIP1 (E920K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2172009	NM_003489.4(NRIP1):c.2757C>T (p.Ser919=)	NRIP1	Single nucleotide variant (synonymous variant)	NRIP1-related disorder +1 more	GLikely benign
Select item 785669	NM_003489.4(NRIP1):c.2750C>T (p.Ser917Leu)	NRIP1 (S917L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2025502	NM_003489.4(NRIP1):c.2742T>G (p.Gly914=)	NRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2481719	NM_003489.4(NRIP1):c.2706T>G (p.Phe902Leu)	NRIP1 (F902L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2806846	NM_003489.4(NRIP1):c.2698C>T (p.Leu900=)	NRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3052614	NM_003489.4(NRIP1):c.2658C>G (p.Ala886=)	NRIP1	Single nucleotide variant (synonymous variant)	NRIP1-related disorder	GLikely benign
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 2480023	NM_003489.4(NRIP1):c.2554C>G (p.Leu852Val)	NRIP1 (L852V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2066897	NM_003489.4(NRIP1):c.2551A>T (p.Asn851Tyr)	NRIP1 (N851Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1996578	NM_003489.4(NRIP1):c.2531_2533dup (p.Met844_Ala845insVal)	NRIP1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2488745	NM_003489.4(NRIP1):c.2486G>A (p.Ser829Asn)	NRIP1 (S829N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2023579	NM_003489.4(NRIP1):c.2459G>A (p.Ser820Asn)	NRIP1 (S820N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3049521	NM_003489.4(NRIP1):c.2454G>A (p.Leu818=)	NRIP1	Single nucleotide variant (synonymous variant)	NRIP1-related disorder	GLikely benign

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