NIPA1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 679847	NM_144599.4(NIPA1):c.-359C>G	NIPA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194677	NM_001142275.1(NIPA1):c.-48+114G>C	NIPA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1298008	NM_001142275.1(NIPA1):c.-48+200del	NIPA1	Deletion (intron variant)	not provided	GBenign
Select item 1198199	NM_144599.5(NIPA1):c.178+52C>T	NIPA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218829	NM_144599.5(NIPA1):c.179-212G>C	NIPA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188228	NM_144599.5(NIPA1):c.179-50C>T	NIPA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2108943	NM_144599.5(NIPA1):c.179-11A>C	NIPA1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 6	GLikely benign
Select item 1912484	NM_144599.5(NIPA1):c.179-9T>C	NIPA1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 6	GLikely benign
Select item 1697220	NM_144599.5(NIPA1):c.179-5T>C	NIPA1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 2892930	NM_144599.5(NIPA1):c.179-4A>G	NIPA1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 6	GLikely benign
Select item 2726045	NM_144599.5(NIPA1):c.204G>A (p.Val68=)	NIPA1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia 6	GLikely benign
Select item 2047431	NM_144599.5(NIPA1):c.216C>G (p.Gly72=)	NIPA1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia 6	GLikely benign
Select item 2988724	NM_144599.5(NIPA1):c.217A>C (p.Thr73Pro)	NIPA1 (T73P)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 1344438	NM_144599.5(NIPA1):c.222C>T (p.Ile74=)	NIPA1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia 6 +1 more	GConflicting classifications of pathogenicity
Select item 887000	NM_144599.5(NIPA1):c.222C>G (p.Ile74Met)	NIPA1 (I74M)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 2956159	NM_144599.5(NIPA1):c.226A>G (p.Met76Val)	NIPA1 (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 2173348	NM_144599.5(NIPA1):c.226+19G>A	NIPA1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 6	GLikely benign
Select item 1260899	NM_144599.5(NIPA1):c.226+163C>T	NIPA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677771	NM_144599.5(NIPA1):c.227-93C>T	NIPA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1906647	NM_144599.5(NIPA1):c.227-5G>C	NIPA1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 6	GLikely benign
Select item 1984697	NM_144599.5(NIPA1):c.227T>C (p.Met76Thr)	NIPA1 (M1T +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 2150460	NM_144599.5(NIPA1):c.228G>A (p.Met76Ile)	NIPA1 (M76I +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 886999	NM_144599.5(NIPA1):c.242T>C (p.Ile81Thr)	NIPA1 (I81T +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 1805183	NM_144599.5(NIPA1):c.257C>G (p.Ala86Gly)	NIPA1 (A11G +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 646108	NM_144599.5(NIPA1):c.263C>T (p.Thr88Met)	NIPA1 (T88M +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 2737280	NM_144599.5(NIPA1):c.264G>A (p.Thr88=)	NIPA1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 6	GLikely benign
Select item 425060	NM_144599.5(NIPA1):c.266C>T (p.Ala89Val)	NIPA1 (A89V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 885998	NM_144599.5(NIPA1):c.267G>A (p.Ala89=)	NIPA1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 6	GConflicting classifications of pathogenicity
Select item 1413405	NM_144599.5(NIPA1):c.275C>T (p.Thr92Met)	NIPA1 (T17M +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 1626168	NM_144599.5(NIPA1):c.291C>T (p.Pro97=)	NIPA1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 6	GLikely benign
Select item 533366	NM_144599.5(NIPA1):c.291C>A (p.Pro97=)	NIPA1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 6	GLikely benign
Select item 315426	NM_144599.5(NIPA1):c.291C>G (p.Pro97=)	NIPA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1624924	NM_144599.5(NIPA1):c.292C>T (p.Leu98=)	NIPA1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 6	GLikely benign
Select item 1512766	NM_144599.5(NIPA1):c.292C>A (p.Leu98Met)	NIPA1 (L23M +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 533364	NM_144599.5(NIPA1):c.299C>T (p.Ala100Val)	NIPA1 (A100V +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 2041058	NM_144599.5(NIPA1):c.311C>T (p.Pro104Leu)	NIPA1 (P104L +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 289458	NM_144599.5(NIPA1):c.312G>A (p.Pro104=)	NIPA1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 6 +3 more	GConflicting classifications of pathogenicity
Select item 447767	NM_144599.5(NIPA1):c.315C>T (p.Phe105=)	NIPA1	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2523	NM_144599.5(NIPA1):c.316G>A (p.Gly106Arg)	NIPA1 (G106R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 2521	NM_144599.5(NIPA1):c.316G>C (p.Gly106Arg)	NIPA1 (G106R +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 6	GPathogenic
Select item 1570228	NM_144599.5(NIPA1):c.317+13A>G	NIPA1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 6	GLikely benign
Select item 667673	NM_144599.5(NIPA1):c.317+190C>G	NIPA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206842	NM_144599.5(NIPA1):c.317+198A>G	NIPA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258937	NM_144599.5(NIPA1):c.317+216T>C	NIPA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197280	NM_144599.5(NIPA1):c.317+274C>G	NIPA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270569	NM_144599.5(NIPA1):c.318-68A>G	NIPA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 517751	NM_144599.5(NIPA1):c.318-15C>T	NIPA1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2861989	NM_144599.5(NIPA1):c.318-12T>G	NIPA1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 6	GLikely benign
Select item 1671333	NM_144599.5(NIPA1):c.324T>C (p.Ile108=)	NIPA1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 6	GLikely benign
Select item 788144	NM_144599.5(NIPA1):c.339C>T (p.Leu113=)	NIPA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1528704	NM_144599.5(NIPA1):c.399C>T (p.Ser133=)	NIPA1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 6	GLikely benign
Select item 2541319	NM_144599.5(NIPA1):c.400G>A (p.Val134Ile)	NIPA1 (V134I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 533363	NM_144599.5(NIPA1):c.403G>A (p.Val135Met)	NIPA1 (V135M +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 6	GConflicting classifications of pathogenicity
Select item 2303852	NM_144599.5(NIPA1):c.409A>G (p.Ile137Val)	NIPA1 (I137V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1655420	NM_144599.5(NIPA1):c.411T>C (p.Ile137=)	NIPA1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 6	GLikely benign
Select item 1108032	NM_144599.5(NIPA1):c.417C>T (p.His139=)	NIPA1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 6	GLikely benign
Select item 315425	NM_144599.5(NIPA1):c.427T>G (p.Ser143Ala)	NIPA1 (S143A +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 2713100	NM_144599.5(NIPA1):c.432G>A (p.Glu144=)	NIPA1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 6	GLikely benign
Select item 1704857	NM_144599.5(NIPA1):c.445_446insCGACTC (p.Thr148_Gln149insProThr)	NIPA1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 129804	NM_144599.5(NIPA1):c.441A>G (p.Thr147=)	NIPA1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GBenign
Select item 701192	NM_144599.5(NIPA1):c.448G>T (p.Ala150Ser)	NIPA1 (A150S +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 6	GLikely benign
Select item 2889500	NM_144599.5(NIPA1):c.471C>G (p.Thr157=)	NIPA1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 6	GLikely benign
Select item 1375588	NM_144599.5(NIPA1):c.477A>G (p.Pro159=)	NIPA1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 1284240	NM_144599.5(NIPA1):c.478+154C>T	NIPA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213344	NM_144599.5(NIPA1):c.478+220C>T	NIPA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295346	NM_144599.5(NIPA1):c.478+232_478+237del	NIPA1	Deletion (intron variant)	not provided	GBenign
Select item 1201211	NM_144599.5(NIPA1):c.479-278T>C	NIPA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 667674	NM_144599.5(NIPA1):c.479-239C>T	NIPA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667675	NM_144599.5(NIPA1):c.479-29C>T	NIPA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1670040	NM_144599.5(NIPA1):c.479-20G>C	NIPA1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 6	GLikely benign
Select item 1604815	NM_144599.5(NIPA1):c.479-11C>T	NIPA1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 6	GLikely benign
Select item 573451	NM_144599.5(NIPA1):c.479-9G>A	NIPA1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 1563194	NM_144599.5(NIPA1):c.479-7G>A	NIPA1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 6	GLikely benign
Select item 1344439	NM_144599.5(NIPA1):c.479-7G>T	NIPA1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 1917383	NM_144599.5(NIPA1):c.480G>A (p.Val160=)	NIPA1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 6	GLikely benign
Select item 1690799	NM_144599.5(NIPA1):c.483T>G (p.Phe161Leu)	NIPA1 (F161L +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2745358	NM_144599.5(NIPA1):c.501C>T (p.Ile167=)	NIPA1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 6	GLikely benign
Select item 2187809	NM_144599.5(NIPA1):c.502G>A (p.Val168Met)	NIPA1 (V93M +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 6 +1 more	GUncertain significance
Select item 982894	NM_144599.5(NIPA1):c.508C>G (p.Leu170Val)	NIPA1 (L170V +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 6	GBenign
Select item 1442067	NM_144599.5(NIPA1):c.511A>T (p.Met171Leu)	NIPA1 (M96L +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 1049060	NM_144599.5(NIPA1):c.511A>G (p.Met171Val)	NIPA1 (M171V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 697004	NM_144599.5(NIPA1):c.525C>T (p.Leu175=)	NIPA1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 6	GLikely benign
Select item 315424	NM_144599.5(NIPA1):c.537C>T (p.Ile179=)	NIPA1	Single nucleotide variant (synonymous variant)	Spastic paraplegia, autosomal dominant +2 more	GBenign/Likely benign
Select item 2644953	NM_144599.5(NIPA1):c.540G>A (p.Ala180=)	NIPA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2914106	NM_144599.5(NIPA1):c.549T>C (p.His183=)	NIPA1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 6	GLikely benign
Select item 3372796	NM_144599.5(NIPA1):c.550G>A (p.Gly184Arg)	NIPA1 (G109R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2276099	NM_144599.5(NIPA1):c.559A>G (p.Asn187Asp)	NIPA1 (N112D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2738213	NM_144599.5(NIPA1):c.573C>T (p.Tyr191=)	NIPA1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 6	GLikely benign
Select item 2747053	NM_144599.5(NIPA1):c.606C>T (p.Thr202=)	NIPA1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 6	GLikely benign
Select item 771978	NM_144599.5(NIPA1):c.627C>T (p.Ile209=)	NIPA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1344440	NM_144599.5(NIPA1):c.636G>A (p.Ala212=)	NIPA1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1372913	NM_144599.5(NIPA1):c.642A>C (p.Gln214His)	NIPA1 (Q139H +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 2311326	NM_144599.5(NIPA1):c.659A>G (p.Asn220Ser)	NIPA1 (N220S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 836324	NM_144599.5(NIPA1):c.662C>T (p.Pro221Leu)	NIPA1 (P221L +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 699096	NM_144599.5(NIPA1):c.681C>T (p.Leu227=)	NIPA1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 6 +2 more	GConflicting classifications of pathogenicity
Select item 2062009	NM_144599.5(NIPA1):c.701T>C (p.Leu234Pro)	NIPA1 (L159P +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 3013494	NM_144599.5(NIPA1):c.702G>A (p.Leu234=)	NIPA1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 6	GLikely benign
Select item 1989309	NM_144599.5(NIPA1):c.706G>A (p.Val236Met)	NIPA1 (V161M +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 1091345	NM_144599.5(NIPA1):c.711C>T (p.Leu237=)	NIPA1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 6	GLikely benign
Select item 2412250	NM_144599.5(NIPA1):c.712G>A (p.Gly238Ser)	NIPA1 (G238S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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