NRP2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935480, LOC129935481 +1299 more	Copy number gain	See cases	GPathogenic
Select item 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 more	Copy number loss	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 150829	GRCh38/hg38 2q33.3-34(chr2:204906843-210031449)x1	ADAM23, C2orf80 +131 more	Copy number loss	See cases	GPathogenic
Select item 150331	GRCh38/hg38 2q33.3(chr2:205163962-206491669)x4	ADAM23, CMKLR2 +30 more	Copy number gain	See cases	GLikely pathogenic
Select item 2554640	NM_003872.3(NRP2):c.41A>G (p.Tyr14Cys)	NRP2 (Y14C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469953	NM_003872.3(NRP2):c.41A>T (p.Tyr14Phe)	NRP2 (Y14F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381496	NM_003872.3(NRP2):c.55C>G (p.Gln19Glu)	NRP2 (Q19E)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3054945	NM_003872.3(NRP2):c.81G>A (p.Pro27=)	NRP2	Single nucleotide variant (synonymous variant)	NRP2-related disorder	GLikely benign
Select item 2636721	NM_003872.3(NRP2):c.85G>A (p.Gly29Arg)	NRP2 (G29R)	Single nucleotide variant (missense variant)	NRP2-related disorder	GUncertain significance
Select item 3202202	NM_003872.3(NRP2):c.92G>A (p.Arg31His)	NRP2 (R31H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789973	NM_003872.3(NRP2):c.123C>T (p.Thr41=)	NRP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3031943	NM_003872.3(NRP2):c.129C>T (p.Pro43=)	NRP2	Single nucleotide variant (synonymous variant)	NRP2-related disorder	GLikely benign
Select item 3029826	NM_003872.3(NRP2):c.150C>G (p.Pro50=)	NRP2	Single nucleotide variant (synonymous variant)	NRP2-related disorder	GLikely benign
Select item 3202197	NM_003872.3(NRP2):c.166G>A (p.Glu56Lys)	NRP2 (E56K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035934	NM_003872.3(NRP2):c.168G>A (p.Glu56=)	NRP2	Single nucleotide variant (synonymous variant)	NRP2-related disorder	GLikely benign
Select item 791470	NM_003872.3(NRP2):c.180C>T (p.Tyr60=)	NRP2	Single nucleotide variant (synonymous variant)	NRP2-related disorder +1 more	GLikely benign
Select item 3030988	NM_003872.3(NRP2):c.186C>T (p.Pro62=)	NRP2	Single nucleotide variant (synonymous variant)	NRP2-related disorder	GLikely benign
Select item 2271653	NM_003872.3(NRP2):c.187G>A (p.Glu63Lys)	NRP2 (E63K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599324	NM_003872.3(NRP2):c.191C>T (p.Pro64Leu)	NRP2 (P64L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044304	NM_003872.3(NRP2):c.234C>T (p.Ile78=)	NRP2	Single nucleotide variant (synonymous variant)	NRP2-related disorder	GLikely benign
Select item 3045302	NM_003872.3(NRP2):c.251+9C>T	NRP2	Single nucleotide variant (intron variant)	NRP2-related disorder	GLikely benign
Select item 3037070	NM_003872.3(NRP2):c.251+10G>A	NRP2	Single nucleotide variant (intron variant)	NRP2-related disorder	GLikely benign
Select item 3202199	NM_003872.3(NRP2):c.262A>G (p.Ile88Val)	NRP2 (I88V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484029	NM_003872.3(NRP2):c.304G>A (p.Gly102Ser)	NRP2 (G102S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202200	NM_003872.3(NRP2):c.337A>G (p.Ile113Val)	NRP2 (I113V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037045	NM_003872.3(NRP2):c.354C>T (p.Ser118=)	NRP2	Single nucleotide variant (synonymous variant)	NRP2-related disorder	GLikely benign
Select item 769578	NM_003872.3(NRP2):c.368A>G (p.Lys123Arg)	NRP2 (K123R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 761015	NM_003872.3(NRP2):c.387C>A (p.Ala129=)	NRP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2519412	NM_003872.3(NRP2):c.418G>C (p.Glu140Gln)	NRP2 (E140Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 744147	NM_003872.3(NRP2):c.420G>A (p.Glu140=)	NRP2	Single nucleotide variant (synonymous variant)	NRP2-related disorder +1 more	GLikely benign
Select item 3031558	NM_003872.3(NRP2):c.433+9G>T	NRP2	Single nucleotide variant (intron variant)	NRP2-related disorder	GLikely benign
Select item 3030554	NM_003872.3(NRP2):c.470A>T (p.Asn157Ile)	NRP2 (N157I)	Single nucleotide variant (missense variant)	NRP2-related disorder	GUncertain significance
Select item 2634571	NM_003872.3(NRP2):c.472G>C (p.Gly158Arg)	NRP2 (G158R)	Single nucleotide variant (missense variant)	NRP2-related disorder	GUncertain significance
Select item 2212347	NM_003872.3(NRP2):c.554T>A (p.Met185Lys)	NRP2 (M185K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721609	NM_003872.3(NRP2):c.559A>G (p.Ile187Val)	NRP2 (I187V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3049178	NM_003872.3(NRP2):c.618G>C (p.Gly206=)	NRP2	Single nucleotide variant (synonymous variant)	NRP2-related disorder	GLikely benign
Select item 3030425	NM_003872.3(NRP2):c.649G>A (p.Asp217Asn)	NRP2 (D217N)	Single nucleotide variant (missense variant)	NRP2-related disorder	GUncertain significance
Select item 2636124	NM_003872.3(NRP2):c.670C>A (p.Pro224Thr)	NRP2 (P224T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3029397	NM_003872.3(NRP2):c.696C>T (p.Thr232=)	NRP2	Single nucleotide variant (synonymous variant)	NRP2-related disorder	GLikely benign
Select item 3038798	NM_003872.3(NRP2):c.716G>A (p.Arg239His)	NRP2 (R239H)	Single nucleotide variant (missense variant)	NRP2-related disorder	GLikely benign
Select item 2634339	NM_003872.3(NRP2):c.725C>T (p.Thr242Met)	NRP2 (T242M)	Single nucleotide variant (missense variant)	NRP2-related disorder	GUncertain significance
Select item 775807	NM_003872.3(NRP2):c.726G>A (p.Thr242=)	NRP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 792930	NM_003872.3(NRP2):c.762G>A (p.Ala254=)	NRP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3036951	NM_003872.3(NRP2):c.785C>T (p.Ala262Val)	NRP2 (A262V)	Single nucleotide variant (missense variant)	NRP2-related disorder	GLikely benign
Select item 2634828	NM_003872.3(NRP2):c.788G>A (p.Arg263His)	NRP2 (R263H)	Single nucleotide variant (missense variant)	NRP2-related disorder	GUncertain significance
Select item 3054330	NM_003872.3(NRP2):c.810G>A (p.Glu270=)	NRP2	Single nucleotide variant (synonymous variant)	NRP2-related disorder	GLikely benign
Select item 717718	NM_003872.3(NRP2):c.838C>T (p.Pro280Ser)	NRP2 (P280S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2629554	NM_003872.3(NRP2):c.850G>A (p.Glu284Lys)	NRP2 (E284K)	Single nucleotide variant (missense variant)	NRP2-related disorder	GUncertain significance
Select item 3202201	NM_003872.3(NRP2):c.859C>T (p.Arg287Trp)	NRP2 (R287W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791885	NM_003872.3(NRP2):c.860G>A (p.Arg287Gln)	NRP2 (R287Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3059160	NM_003872.3(NRP2):c.870T>C (p.Asn290=)	NRP2	Single nucleotide variant (synonymous variant)	NRP2-related disorder	GBenign
Select item 2361953	NM_003872.3(NRP2):c.904G>A (p.Gly302Arg)	NRP2 (G302R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402877	NM_003872.3(NRP2):c.905G>A (p.Gly302Glu)	NRP2 (G302E)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2255448	NM_003872.3(NRP2):c.914C>A (p.Thr305Asn)	NRP2 (T305N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729740	NM_003872.3(NRP2):c.962A>T (p.Asn321Ile)	NRP2 (N321I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3202203	NM_003872.3(NRP2):c.971C>G (p.Ser324Cys)	NRP2 (S324C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052937	NM_003872.3(NRP2):c.991-9A>C	NRP2	Single nucleotide variant (intron variant)	NRP2-related disorder	GLikely benign
Select item 756039	NM_003872.3(NRP2):c.996C>T (p.Asp332=)	NRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 279574	NM_003872.3(NRP2):c.1000C>T (p.Arg334Cys)	NRP2 (R334C)	Single nucleotide variant (missense variant)	NRP2-related disorder	GLikely benign
Select item 2628987	NM_003872.3(NRP2):c.1001G>A (p.Arg334His)	NRP2 (R334H)	Single nucleotide variant (missense variant)	NRP2-related disorder	GUncertain significance
Select item 2634245	NM_003872.3(NRP2):c.1019C>T (p.Thr340Met)	NRP2 (T340M)	Single nucleotide variant (missense variant)	NRP2-related disorder	GUncertain significance
Select item 3056590	NM_003872.3(NRP2):c.1041G>A (p.Ala347=)	NRP2	Single nucleotide variant (synonymous variant)	NRP2-related disorder	GLikely benign
Select item 2634322	NM_003872.3(NRP2):c.1059G>C (p.Gln353His)	NRP2 (Q353H)	Single nucleotide variant (missense variant)	NRP2-related disorder +1 more	GUncertain significance
Select item 3051471	NM_003872.3(NRP2):c.1062T>G (p.Asn354Lys)	NRP2 (N354K)	Single nucleotide variant (missense variant)	NRP2-related disorder	GLikely benign
Select item 3059466	NM_003872.3(NRP2):c.1071T>C (p.Tyr357=)	NRP2	Single nucleotide variant (synonymous variant)	NRP2-related disorder	GBenign
Select item 3202195	NM_003872.3(NRP2):c.1145A>G (p.Lys382Arg)	NRP2 (K382R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781825	NM_003872.3(NRP2):c.1146+7C>T	NRP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3043553	NM_003872.3(NRP2):c.1147-9A>G	NRP2	Single nucleotide variant (intron variant)	NRP2-related disorder	GLikely benign
Select item 3051314	NM_003872.3(NRP2):c.1147-8C>T	NRP2	Single nucleotide variant (intron variant)	NRP2-related disorder	GLikely benign
Select item 782419	NM_003872.3(NRP2):c.1149A>G (p.Val383=)	NRP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3036834	NM_003872.3(NRP2):c.1164C>T (p.Asn388=)	NRP2	Single nucleotide variant (synonymous variant)	NRP2-related disorder	GLikely benign
Select item 3032028	NM_003872.3(NRP2):c.1179G>A (p.Val393=)	NRP2	Single nucleotide variant (synonymous variant)	NRP2-related disorder	GLikely benign
Select item 3032976	NM_003872.3(NRP2):c.1197C>T (p.His399=)	NRP2	Single nucleotide variant (synonymous variant)	NRP2-related disorder	GLikely benign
Select item 2329024	NM_003872.3(NRP2):c.1199C>G (p.Ala400Gly)	NRP2 (A400G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202196	NM_003872.3(NRP2):c.1262G>A (p.Arg421Gln)	NRP2 (R421Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2634159	NM_003872.3(NRP2):c.1282C>T (p.Arg428Trp)	NRP2 (R428W)	Single nucleotide variant (missense variant)	NRP2-related disorder	GUncertain significance
Select item 3041963	NM_003872.3(NRP2):c.1321C>T (p.Leu441Phe)	NRP2 (L441F)	Single nucleotide variant (missense variant)	NRP2-related disorder	GLikely benign
Select item 717896	NM_003872.3(NRP2):c.1333A>C (p.Ile445Leu)	NRP2 (I445L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 777569	NM_003872.3(NRP2):c.1404= (p.Val468=)	NRP2	Variation (no sequence alteration)	not provided	GBenign
Select item 2311237	NM_003872.3(NRP2):c.1409G>C (p.Ser470Thr)	NRP2 (S470T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2636156	NM_003872.3(NRP2):c.1411C>T (p.Arg471Cys)	NRP2 (R471C)	Single nucleotide variant (missense variant)	NRP2-related disorder	GUncertain significance
Select item 2539789	NM_003872.3(NRP2):c.1411C>A (p.Arg471Ser)	NRP2 (R471S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329686	NM_003872.3(NRP2):c.1411C>G (p.Arg471Gly)	NRP2 (R471G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2635959	NM_003872.3(NRP2):c.1412G>A (p.Arg471His)	NRP2 (R471H)	Single nucleotide variant (missense variant)	NRP2-related disorder	GUncertain significance
Select item 737189	NM_003872.3(NRP2):c.1416G>A (p.Ser472=)	NRP2	Single nucleotide variant (synonymous variant)	NRP2-related disorder +1 more	GLikely benign
Select item 724326	NM_003872.3(NRP2):c.1449C>T (p.Pro483=)	NRP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2571114	NM_003872.3(NRP2):c.1450G>A (p.Gly484Ser)	NRP2 (G484S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3048363	NM_003872.3(NRP2):c.1455G>A (p.Glu485=)	NRP2	Single nucleotide variant (synonymous variant)	NRP2-related disorder	GLikely benign
Select item 3031512	NM_003872.3(NRP2):c.1467G>A (p.Gln489=)	NRP2	Single nucleotide variant (synonymous variant)	NRP2-related disorder	GLikely benign
Select item 3046082	NM_003872.3(NRP2):c.1468G>A (p.Val490Ile)	NRP2 (V490I)	Single nucleotide variant (missense variant)	NRP2-related disorder	GLikely benign
Select item 2621754	NM_003872.3(NRP2):c.1468G>C (p.Val490Leu)	NRP2 (V490L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054714	NM_003872.3(NRP2):c.1522G>A (p.Gly508Arg)	NRP2 (G508R)	Single nucleotide variant (missense variant)	NRP2-related disorder	GUncertain significance
Select item 3031097	NM_003872.3(NRP2):c.1541C>T (p.Ala514Val)	NRP2 (A514V)	Single nucleotide variant (missense variant)	NRP2-related disorder	GUncertain significance
Select item 3048569	NM_003872.3(NRP2):c.1563G>A (p.Val521=)	NRP2	Single nucleotide variant (synonymous variant)	NRP2-related disorder	GLikely benign

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