Related gene-specific medical variations for Gene (Select 123606) - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3200138	NM_144599.5(NIPA1):c.86C>T (p.Ser29Leu)	LOC130056709, NIPA1 (S29L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3029067	NM_144599.5(NIPA1):c.-10C>G	LOC130056709, NIPA1	Single nucleotide variant (5 prime UTR variant +1 more)	NIPA1-related condition	GLikely benign
Select item 2991553	NM_144599.5(NIPA1):c.21_47del (p.Ala8_Ala16del)	LOC130056709, NIPA1	Deletion (inframe_deletion +1 more)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 2975139	NM_144599.5(NIPA1):c.24G>T (p.Ala8=)	LOC130056709, NIPA1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 6	GLikely benign
Select item 2975138	NM_144599.5(NIPA1):c.29_30insAGCGGC (p.Ala16_Gly17insAlaAla)	LOC130056709, NIPA1	Insertion (inframe_insertion +1 more)	Hereditary spastic paraplegia 6	GLikely benign
Select item 2963692	NM_144599.5(NIPA1):c.17C>T (p.Ala6Val)	LOC130056709, NIPA1 (A6V)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 2914798	NM_144599.5(NIPA1):c.21_35del (p.Ala12_Ala16del)	LOC130056709, NIPA1	Deletion (inframe_deletion +1 more)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 2760707	NM_144599.5(NIPA1):c.32C>T (p.Ala11Val)	LOC130056709, NIPA1 (A11V)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 2744438	NM_144599.5(NIPA1):c.166G>A (p.Ala56Thr)	LOC130056709, NIPA1 (A56T)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 2711857	NM_144599.5(NIPA1):c.14C>T (p.Ala5Val)	LOC130056709, NIPA1 (A5V)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 2693831	NM_144599.5(NIPA1):c.139G>A (p.Val47Met)	LOC130056709, NIPA1 (V47M)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 2684018	NM_144599.5(NIPA1):c.134C>A (p.Thr45Lys)	LOC130056709, NIPA1 (T45K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2612244	NM_144599.5(NIPA1):c.128G>C (p.Gly43Ala)	LOC130056709, NIPA1 (G43A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2610826	NM_144599.5(NIPA1):c.68C>G (p.Pro23Arg)	LOC130056709, NIPA1 (P23R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2434358	NM_144599.5(NIPA1):c.70A>G (p.Ser24Gly)	LOC130056709, NIPA1 (S24G)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 2434357	NM_144599.5(NIPA1):c.21_38del (p.Ala11_Ala16del)	LOC130056709, NIPA1	Deletion (inframe_deletion +1 more)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 2270398	NM_144599.5(NIPA1):c.34G>A (p.Ala12Thr)	LOC130056709, NIPA1 (A12T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2199648	NM_144599.5(NIPA1):c.6G>C (p.Gly2=)	LOC130056709, NIPA1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 6	GLikely benign
Select item 2160285	NM_144599.5(NIPA1):c.67C>T (p.Pro23Ser)	LOC130056709, NIPA1 (P23S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2104456	NM_144599.5(NIPA1):c.32C>G (p.Ala11Gly)	LOC130056709, NIPA1 (A11G)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 1995648	NM_144599.5(NIPA1):c.28G>A (p.Ala10Thr)	LOC130056709, NIPA1 (A10T)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 1969622	NM_144599.5(NIPA1):c.160G>A (p.Val54Met)	LOC130056709, NIPA1 (V54M)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 1921100	NM_144599.5(NIPA1):c.126C>T (p.Asn42=)	LOC130056709, NIPA1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 6	GLikely benign
Select item 1650673	NM_144599.5(NIPA1):c.90C>G (p.Leu30=)	LOC130056709, NIPA1	Single nucleotide variant (intron variant +1 more)	Hereditary spastic paraplegia 6	GLikely benign
Select item 1502711	NM_144599.5(NIPA1):c.121G>A (p.Val41Met)	LOC130056709, NIPA1 (V41M)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 1483395	NM_144599.5(NIPA1):c.19G>A (p.Ala7Thr)	LOC130056709, NIPA1 (A7T)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 1482547	NM_144599.5(NIPA1):c.20C>T (p.Ala7Val)	LOC130056709, NIPA1 (A7V)	Single nucleotide variant (intron variant +1 more)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 1474382	NM_144599.5(NIPA1):c.21_26dup (p.Ala15_Ala16dup)	LOC130056709, NIPA1	Duplication (intron variant +1 more)	Hereditary spastic paraplegia 6	GBenign
Select item 1420589	NM_144599.5(NIPA1):c.154G>A (p.Gly52Ser)	LOC130056709, NIPA1 (G52S)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 1407288	NM_144599.5(NIPA1):c.40G>A (p.Ala14Thr)	LOC130056709, NIPA1 (A14T)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 1383396	NM_144599.5(NIPA1):c.21_29del (p.Ala14_Ala16del)	LOC130056709, NIPA1	Deletion (intron variant +1 more)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 1344437	NM_144599.5(NIPA1):c.11C>T (p.Ala4Val)	LOC130056709, NIPA1 (A4V)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 1319171	NM_144599.5(NIPA1):c.44C>G (p.Ala15Gly)	LOC130056709, NIPA1 (A15G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1307912	NM_144599.5(NIPA1):c.160G>C (p.Val54Leu)	LOC130056709, NIPA1 (V54L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1295344	NM_144599.5(NIPA1):c.178+111C>G	LOC130056710, NIPA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290056	NM_144599.5(NIPA1):c.178+253G>T	LOC130056710, NIPA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1163565	NM_144599.5(NIPA1):c.29C>T (p.Ala10Val)	LOC130056709, NIPA1 (A10V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1015202	NM_144599.5(NIPA1):c.15_23del (p.Ala14_Ala16del)	LOC130056709, NIPA1	Deletion (inframe_deletion +1 more)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 995275	NM_144599.5(NIPA1):c.13G>T (p.Ala5Ser)	LOC130056709, NIPA1 (A5S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 989083	NM_144599.5(NIPA1):c.109G>A (p.Val37Met)	LOC130056709, NIPA1 (V37M)	Single nucleotide variant (intron variant +1 more)	Spastic paraplegia +1 more	GUncertain significance
Select item 976650	NM_144599.5(NIPA1):c.24GGC[21] (p.Ala4_Ala16dup)	LOC130056709, NIPA1	Microsatellite (inframe_insertion +1 more)	Amyotrophic lateral sclerosis	Grisk factor
Select item 948284	NM_144599.5(NIPA1):c.21_26del (p.Ala15_Ala16del)	LOC130056709, NIPA1	Deletion (inframe_deletion +1 more)	Hereditary spastic paraplegia 6 +1 more	GConflicting classifications of pathogenicity
Select item 948184	NM_144599.5(NIPA1):c.106G>T (p.Val36Phe)	LOC130056709, NIPA1 (V36F)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 930279	NM_144599.5(NIPA1):c.178+9G>A	LOC130056709, NIPA1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 887005	NM_144599.5(NIPA1):c.1A>G (p.Met1Val)	LOC130056709, NIPA1 (M1V)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 887004	NM_144599.5(NIPA1):c.8C>T (p.Thr3Ile)	LOC130056709, NIPA1 (T3I)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 887003	NM_144599.5(NIPA1):c.17C>A (p.Ala6Glu)	LOC130056709, NIPA1 (A6E)	Single nucleotide variant (intron variant +1 more)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 887002	NM_144599.5(NIPA1):c.49G>A (p.Gly17Arg)	LOC130056709, NIPA1 (G17R)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 6 +1 more	GUncertain significance
Select item 887001	NM_144599.5(NIPA1):c.150G>A (p.Lys50=)	LOC130056709, NIPA1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 872110	NM_144599.5(NIPA1):c.24GGC[4] (p.Ala13_Ala16del)	LOC130056709, NIPA1	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 795029	NM_144599.5(NIPA1):c.51G>C (p.Gly17=)	LOC130056709, NIPA1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 6	GLikely benign
Select item 760017	NM_144599.5(NIPA1):c.120G>C (p.Leu40=)	LOC130056709, NIPA1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 695853	NM_144599.5(NIPA1):c.21_23del (p.Ala16del)	LOC130056709, NIPA1 (A16del)	Deletion (inframe_deletion +1 more)	not provided +2 more	GBenign/Likely benign
Select item 660993	NM_144599.5(NIPA1):c.130T>G (p.Ser44Ala)	LOC130056709, NIPA1 (S44A)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 642752	NM_144599.5(NIPA1):c.24GGC[3] (p.Ala12_Ala16del)	LOC130056709, NIPA1	Microsatellite (inframe_deletion +1 more)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 639570	NM_144599.5(NIPA1):c.12_17del (p.Ala15_Ala16del)	LOC130056709, NIPA1	Deletion (intron variant +1 more)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 569841	NM_144599.5(NIPA1):c.24GGC[12] (p.Ala13_Ala16dup)	LOC130056709, NIPA1	Microsatellite (inframe_insertion +1 more)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 533367	NM_144599.5(NIPA1):c.45G>A (p.Ala15=)	LOC130056709, NIPA1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 6	GLikely benign
Select item 533362	NM_144599.5(NIPA1):c.24GGC[11] (p.Ala14_Ala16dup)	LOC130056709, NIPA1	Microsatellite (inframe_insertion +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 464775	NM_144599.5(NIPA1):c.99C>T (p.Gly33=)	LOC130056709, NIPA1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 447766	NM_144599.5(NIPA1):c.17C>G (p.Ala6Gly)	LOC130056709, NIPA1 (A6G)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 430546	NM_144599.5(NIPA1):c.71G>C (p.Ser24Thr)	LOC130056709, NIPA1 (S24T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 412532	NM_144599.5(NIPA1):c.24GGC[6] (p.Ala15_Ala16del)	LOC130056709, NIPA1	Microsatellite (inframe_deletion +1 more)	not specified +2 more	GBenign/Likely benign
Select item 380931	NM_144599.5(NIPA1):c.21A>G (p.Ala7=)	LOC130056709, NIPA1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 315427	NM_144599.4(NIPA1):c.-19G>A	LOC130056709, NIPA1	Single nucleotide variant (intron variant)	Spastic paraplegia, autosomal dominant	GUncertain significance
Select item 241882	NM_144599.5(NIPA1):c.24GGC[9] (p.Ala16dup)	LOC130056709, NIPA1	Microsatellite (inframe_insertion +1 more)	not specified +3 more	GBenign/Likely benign
Select item 241881	NM_144599.5(NIPA1):c.24GGC[5] (p.Ala14_Ala16del)	LOC130056709, NIPA1	Microsatellite (inframe_deletion +1 more)	Hereditary spastic paraplegia 6 +1 more	GBenign/Likely benign
Select item 218839	NM_144599.5(NIPA1):c.41C>G (p.Ala14Gly)	LOC130056709, NIPA1 (A14G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 193496	NM_144599.5(NIPA1):c.24GGC[10] (p.Ala15_Ala16dup)	LOC130056709, NIPA1	Microsatellite (inframe_insertion +1 more)	Spastic paraplegia, autosomal dominant +4 more	GConflicting classifications of pathogenicity
Select item 193495	NM_144599.5(NIPA1):c.24GGC[7] (p.Ala16del)	LOC130056709, NIPA1 (A16del)	Microsatellite (inframe_deletion +1 more)	Spastic paraplegia, autosomal dominant +3 more	GBenign/Likely benign
Select item 157329	NC_000015.9:g.23084443_23114374del	NIPA1	Deletion	Preeclampsia	Gnot provided
Select item 157328	NC_000015.9:g.23077857_23114374del	NIPA1	Deletion	Small for gestational age	Gnot provided
Select item 2520	NM_144599.5(NIPA1):c.134C>G (p.Thr45Arg)	LOC130056709, NIPA1 (T45R)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 6	GPathogenic

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Items: 73