NSRP1[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154960	GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1	ABHD15, ADAP2 +202 more	Copy number loss	See cases	GPathogenic
Select item 3233675	NM_032141.4(NSRP1):c.2T>C (p.Met1Thr)	LOC126862529, NSRP1 (M1T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2227520	NM_032141.4(NSRP1):c.10C>T (p.Pro4Ser)	LOC126862529, NSRP1 (P4S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3202403	NM_032141.4(NSRP1):c.11C>G (p.Pro4Arg)	LOC126862529, NSRP1 (P4R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1221211	NM_032141.4(NSRP1):c.20+302A>C	LOC126862529, MIR423 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1706591	NM_032141.4(NSRP1):c.24T>G (p.Tyr8Ter)	NSRP1 (Y8*)	Single nucleotide variant (nonsense +1 more)	not specified	GLikely pathogenic
Select item 2465921	NM_032141.4(NSRP1):c.31A>G (p.Ile11Val)	NSRP1 (I11V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1047907	NM_032141.4(NSRP1):c.52C>T (p.Gln18Ter)	NSRP1 (Q18*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2570282	NM_032141.4(NSRP1):c.142G>A (p.Glu48Lys)	NSRP1 (E48K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3301176	NM_032141.4(NSRP1):c.191A>G (p.Lys64Arg)	NSRP1 (K10R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518486	NM_032141.4(NSRP1):c.192G>C (p.Lys64Asn)	NSRP1 (K10N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052334	NM_032141.4(NSRP1):c.250A>G (p.Lys84Glu)	NSRP1 (K30E +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3202405	NM_032141.4(NSRP1):c.327A>C (p.Lys109Asn)	NSRP1 (K55N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252002	NM_032141.4(NSRP1):c.364A>G (p.Met122Val)	NSRP1 (M122V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2662141	NM_032141.4(NSRP1):c.395T>A (p.Met132Lys)	NSRP1 (M132K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2347493	NM_032141.4(NSRP1):c.413A>C (p.Asp138Ala)	NSRP1 (D138A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301173	NM_032141.4(NSRP1):c.419A>G (p.Lys140Arg)	NSRP1 (K140R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2662138	NM_032141.4(NSRP1):c.446A>C (p.Lys149Thr)	NSRP1 (K149T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2544408	NM_032141.4(NSRP1):c.554G>A (p.Arg185Lys)	NSRP1 (R131K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378272	NM_032141.4(NSRP1):c.608G>A (p.Arg203His)	NSRP1 (R203H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202406	NM_032141.4(NSRP1):c.689A>G (p.Glu230Gly)	NSRP1 (E176G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616006	NM_032141.4(NSRP1):c.751G>A (p.Asp251Asn)	NSRP1 (D197N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372947	NM_032141.4(NSRP1):c.767C>T (p.Ala256Val)	NSRP1 (A256V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202408	NM_032141.4(NSRP1):c.779T>C (p.Ile260Thr)	NSRP1 (I206T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301175	NM_032141.4(NSRP1):c.896G>A (p.Ser299Asn)	NSRP1 (S245N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554921	NM_032141.4(NSRP1):c.907C>T (p.His303Tyr)	NSRP1 (H249Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2689619	NM_032141.4(NSRP1):c.981C>G (p.Asp327Glu)	NSRP1 (D273E +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities	GUncertain significance
Select item 3202409	NM_032141.4(NSRP1):c.998C>T (p.Thr333Ile)	NSRP1 (T333I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202399	NM_032141.4(NSRP1):c.1004G>A (p.Arg335His)	NSRP1 (R281H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543341	NM_032141.4(NSRP1):c.1045G>A (p.Ala349Thr)	NSRP1 (A349T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202400	NM_032141.4(NSRP1):c.1064A>G (p.His355Arg)	NSRP1 (H355R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276376	NM_032141.4(NSRP1):c.1094C>A (p.Pro365Gln)	NSRP1 (P365Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202402	NM_032141.4(NSRP1):c.1100C>T (p.Ala367Val)	NSRP1 (A313V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1047906	NM_032141.4(NSRP1):c.1272dup (p.Lys425fs)	NSRP1 (K371fs +1 more)	Duplication (frameshift variant)	Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities +4 more	GPathogenic
Select item 3202404	NM_032141.4(NSRP1):c.1282T>C (p.Tyr428His)	NSRP1 (Y428H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525396	NM_032141.4(NSRP1):c.1303A>G (p.Arg435Gly)	NSRP1 (R381G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1687281	NM_032141.4(NSRP1):c.1324del (p.Glu441_Val442insTer)	NSRP1	Deletion (nonsense)	NSRP1-related disorder	GLikely pathogenic
Select item 1047905	NM_032141.4(NSRP1):c.1359_1362del (p.Glu455fs)	NSRP1 (E401fs +1 more)	Deletion (frameshift variant)	Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities +4 more	GPathogenic
Select item 2373728	NM_032141.4(NSRP1):c.1450A>G (p.Arg484Gly)	NSRP1 (R430G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319870	NM_032141.4(NSRP1):c.1537C>A (p.Gln513Lys)	NSRP1 (Q513K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214595	NM_032141.4(NSRP1):c.1577G>A (p.Arg526Gln)	NSRP1 (R526Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337891	NM_032141.4(NSRP1):c.1658T>C (p.Ile553Thr)	NSRP1 (I499T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063487	GRCh37/hg19 17q11.2(chr17:28277040-30903559)x1	ADAP2, ATAD5 +28 more	Copy number loss	not specified	GPathogenic
Select item 2685600	GRCh37/hg19 17q11.2(chr17:28387597-30812008)x1	ADAP2, ATAD5 +26 more	Copy number loss	not provided	GPathogenic
Select item 2427184	NC_000017.10:g.(?_26684694)_(29701173_?)dup	ABHD15, ADAP2 +54 more	Duplication	not provided	GUncertain significance
Select item 2422714	NC_000017.10:g.(?_27573882)_(29576157_?)del	CORO6, ABHD15 +21 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 815920	GRCh37/hg19 17q11.1-11.2(chr17:25274363-28450707)x3	ABHD15, ALDOC +49 more	Copy number gain	not provided	GPathogenic
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 624545	GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	ABHD15, ADAP2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 523166	GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1	LYRM9, MIR144 +72 more	Copy number loss	Mitogen-activated protein kinase kinase inhibitor response	Gdrug response
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic

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Items: 52