NRIP3[gene] - ClinVar

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

Search results

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 155423	GRCh38/hg38 11p15.4(chr11:7995676-10437205)x3	ADM, ADM-DT +135 more	Copy number gain	See cases	GUncertain significance
Select item 2295941	NM_020645.3(NRIP3):c.661G>A (p.Asp221Asn)	NRIP3 (D221N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403387	NM_020645.3(NRIP3):c.611T>C (p.Leu204Pro)	NRIP3 (L204P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202158	NM_020645.3(NRIP3):c.579C>G (p.Asn193Lys)	NRIP3 (N193K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316042	NM_020645.3(NRIP3):c.577A>G (p.Asn193Asp)	NRIP3 (N193D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202157	NM_020645.3(NRIP3):c.491T>C (p.Val164Ala)	NRIP3 (V164A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350399	NM_020645.3(NRIP3):c.479G>A (p.Arg160Gln)	NRIP3 (R160Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202156	NM_020645.3(NRIP3):c.473T>C (p.Leu158Pro)	NRIP3 (L158P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605971	NM_020645.3(NRIP3):c.440A>C (p.Lys147Thr)	NRIP3 (K147T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301054	NM_020645.3(NRIP3):c.421G>A (p.Gly141Arg)	NRIP3 (G141R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301055	NM_020645.3(NRIP3):c.382C>A (p.Leu128Ile)	NRIP3 (L128I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202155	NM_020645.3(NRIP3):c.379T>C (p.Cys127Arg)	NRIP3 (C127R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202154	NM_020645.3(NRIP3):c.343G>A (p.Ala115Thr)	NRIP3 (A115T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202153	NM_020645.3(NRIP3):c.242G>A (p.Arg81His)	NRIP3 (R81H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202152	NM_020645.3(NRIP3):c.207G>A (p.Met69Ile)	NRIP3 (M69I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301056	NM_020645.3(NRIP3):c.206T>C (p.Met69Thr)	NRIP3 (M69T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616747	NM_020645.3(NRIP3):c.200G>A (p.Arg67His)	NRIP3 (R67H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202151	NM_020645.3(NRIP3):c.151A>C (p.Lys51Gln)	NRIP3 (K51Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242315	GRCh37/hg19 11p15.4(chr11:8548056-10497905)x3	ADM, AKIP1 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 815409	GRCh37/hg19 11p15.4(chr11:8859352-9226956)x3	ASCL3, AKIP1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	C11orf40, C11orf42 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	AKIP1, ANO9 +222 more	Copy number gain	not provided	GPathogenic
Select item 563871	GRCh37/hg19 11p15.4(chr11:6969013-9257231)x3	ZNF214, NLRP10 +28 more	Copy number gain	not provided	GPathogenic
Select item 563868	GRCh37/hg19 11p15.4(chr11:7837338-9295428)x3	TRIM66, STK33 +18 more	Copy number gain	not provided	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 395012	GRCh37/hg19 11p15.4(chr11:8902282-9200052)x3	NRIP3, AKIP1 +6 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 35