"Ambry Genetics"[submitter] AND "LOC126862085"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2622784	NM_001330239.4(TJP1):c.3928C>T (p.Pro1310Ser)	LOC126862085, TJP1 (P1234S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528345	NM_001330239.4(TJP1):c.3890C>T (p.Ala1297Val)	LOC126862085, TJP1 (A1217V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387369	NM_001330239.4(TJP1):c.3853G>A (p.Val1285Ile)	LOC126862085, TJP1 (V1289I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301869	NM_001330239.4(TJP1):c.3754G>A (p.Glu1252Lys)	LOC126862085, TJP1 (E1176K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386311	NM_001330239.4(TJP1):c.3706G>A (p.Ala1236Thr)	LOC126862085, TJP1 (A1156T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623171	NM_001330239.4(TJP1):c.3700C>T (p.Pro1234Ser)	LOC126862085, TJP1 (P1158S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596121	NM_001330239.4(TJP1):c.3659C>G (p.Ala1220Gly)	TJP1, LOC126862085 (A1140G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412233	NM_001330239.4(TJP1):c.3524C>T (p.Ala1175Val)	LOC126862085, TJP1 (A1099V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325429	NM_001330239.4(TJP1):c.3505G>T (p.Gly1169Cys)	LOC126862085, TJP1 (G1173C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274868	NM_001330239.4(TJP1):c.3461C>G (p.Ala1154Gly)	LOC126862085, TJP1 (A1074G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339518	NM_001330239.4(TJP1):c.3460G>A (p.Ala1154Thr)	LOC126862085, TJP1 (A1247T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2361634	NM_001330239.4(TJP1):c.3439G>A (p.Glu1147Lys)	LOC126862085, TJP1 (E1067K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340318	NM_001330239.4(TJP1):c.3340C>G (p.Leu1114Val)	LOC126862085, TJP1 (L1118V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329973	NM_001330239.4(TJP1):c.3320A>T (p.Asp1107Val)	LOC126862085, TJP1 (D1111V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609125	NM_001330239.4(TJP1):c.3308G>A (p.Arg1103Gln)	LOC126862085, TJP1 (R1196Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320921	NM_001330239.4(TJP1):c.3253C>A (p.Pro1085Thr)	LOC126862085, TJP1 (P1085T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 765446	NM_001330239.4(TJP1):c.3229C>A (p.Arg1077Ser)	TJP1, LOC126862085 (R997S +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2467063	NM_001330239.4(TJP1):c.3157G>C (p.Asp1053His)	LOC126862085, TJP1 (D1053H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523539	NM_001330239.4(TJP1):c.3151A>G (p.Ser1051Gly)	LOC126862085, TJP1 (S1051G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242635	NM_001330239.4(TJP1):c.3036G>A (p.Met1012Ile)	LOC126862085, TJP1 (M1016I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 20