"PreventionGenetics, part of Exact Sciences"[submitter] AND "NRIP1"[ge - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 769117	NM_003489.4(NRIP1):c.2853G>A (p.Pro951=)	NRIP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 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 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 3049521	NM_003489.4(NRIP1):c.2454G>A (p.Leu818=)	NRIP1	Single nucleotide variant (synonymous 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 2634992	NM_003489.4(NRIP1):c.2230_2233del (p.Arg744fs)	NRIP1 (R744fs)	Microsatellite (frameshift variant)	NRIP1-related disorder	GUncertain significance
Select item 2916279	NM_003489.4(NRIP1):c.2229G>A (p.Glu743=)	NRIP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2702753	NM_003489.4(NRIP1):c.2201G>A (p.Arg734Lys)	NRIP1 (R734K)	Single nucleotide variant (missense variant)	NRIP1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2184899	NM_003489.4(NRIP1):c.2146C>T (p.Leu716Phe)	NRIP1 (L716F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 715466	NM_003489.4(NRIP1):c.2071C>T (p.Pro691Ser)	NRIP1 (P691S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2164085	NM_003489.4(NRIP1):c.2038G>A (p.Ala680Thr)	NRIP1 (A680T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
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 2636783	NM_003489.4(NRIP1):c.1727A>G (p.Lys576Arg)	NRIP1 (K576R)	Single nucleotide variant (missense variant)	NRIP1-related disorder	GUncertain significance
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 2374649	NM_003489.4(NRIP1):c.1469C>T (p.Ser490Phe)	NRIP1 (S490F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 2173633	NM_003489.4(NRIP1):c.1239T>C (p.Thr413=)	NRIP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2630356	NM_003489.4(NRIP1):c.1079C>T (p.Ala360Val)	NRIP1 (A360V)	Single nucleotide variant (missense 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 709307	NM_003489.4(NRIP1):c.978T>A (p.Asn326Lys)	NRIP1 (N326K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2617182	NM_003489.4(NRIP1):c.971A>G (p.His324Arg)	NRIP1 (H324R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 1420163	NM_003489.4(NRIP1):c.717A>T (p.Arg239Ser)	NRIP1 (R239S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1590571	NM_003489.4(NRIP1):c.662A>G (p.His221Arg)	NRIP1 (H221R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 2883863	NM_003489.4(NRIP1):c.494G>A (p.Ser165Asn)	NRIP1 (S165N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
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 3049192	NM_003489.4(NRIP1):c.425C>G (p.Ser142Cys)	NRIP1 (S142C)	Single nucleotide variant (missense variant)	NRIP1-related disorder	GUncertain significance
Select item 2629219	NM_003489.4(NRIP1):c.133A>G (p.Asn45Asp)	NRIP1 (N45D)	Single nucleotide variant (missense variant)	NRIP1-related disorder	GUncertain significance
Select item 3043163	NM_003489.4(NRIP1):c.-7A>G	NRIP1	Single nucleotide variant (5 prime UTR variant)	NRIP1-related disorder	GLikely benign

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Items: 43