"Genome-Nilou Lab"[submitter] AND "AP4B1-AS1"[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 589417	NM_001253852.3(AP4B1):c.2145A>T (p.Ala715=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 772016	NM_001253852.3(AP4B1):c.2007C>T (p.Ile669=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 589431	NM_001253852.3(AP4B1):c.2004C>T (p.Thr668=)	AP4B1-AS1, AP4B1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1038811	NM_001253852.3(AP4B1):c.1865C>T (p.Pro622Leu)	AP4B1, AP4B1-AS1 (P454L +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47 +2 more	GUncertain significance
Select item 434224	NM_001253852.3(AP4B1):c.1859T>C (p.Leu620Pro)	AP4B1, AP4B1-AS1 (L620P +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47 +2 more	GUncertain significance
Select item 157719	NM_001253852.3(AP4B1):c.1793-9C>G	AP4B1, AP4B1-AS1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia +3 more	GBenign
Select item 1336531	NM_001253852.3(AP4B1):c.1748G>A (p.Arg583His)	AP4B1, AP4B1-AS1 (R415H +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 588263	NM_001253852.3(AP4B1):c.1725C>T (p.Ile575=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GLikely benign
Select item 220727	NM_001253852.3(AP4B1):c.1723A>G (p.Ile575Val)	AP4B1-AS1, AP4B1 (I575V +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 210193	NM_001253852.3(AP4B1):c.1703G>A (p.Gly568Asp)	AP4B1, AP4B1-AS1 (G568D +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47 +1 more	GUncertain significance
Select item 408759	NM_001253852.3(AP4B1):c.1643C>T (p.Pro548Leu)	AP4B1, AP4B1-AS1 (P548L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 588773	NM_001253852.3(AP4B1):c.1608T>A (p.Pro536=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1344463	NM_001253852.3(AP4B1):c.1591C>T (p.Arg531Trp)	AP4B1, AP4B1-AS1 (R363W +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47 +2 more	GUncertain significance
Select item 589396	NM_001253852.3(AP4B1):c.1559G>A (p.Arg520His)	AP4B1, AP4B1-AS1 (R520H +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47 +1 more	GUncertain significance
Select item 589547	NM_001253852.3(AP4B1):c.1558C>T (p.Arg520Cys)	AP4B1, AP4B1-AS1 (R520C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1032462	NM_001253852.3(AP4B1):c.1540C>T (p.Arg514Ter)	AP4B1-AS1, AP4B1 (R514* +2 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 47	GPathogenic/Likely pathogenic
Select item 588315	NM_001253852.3(AP4B1):c.1535G>A (p.Arg512Gln)	AP4B1, AP4B1-AS1 (R512Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 589638	NM_001253852.3(AP4B1):c.1526T>C (p.Met509Thr)	AP4B1, AP4B1-AS1 (M509T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 663108	NM_001253852.3(AP4B1):c.1497G>T (p.Leu499Phe)	AP4B1, AP4B1-AS1 (L499F +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47 +1 more	GUncertain significance
Select item 1344453	NM_001253852.3(AP4B1):c.1489C>T (p.Arg497Cys)	AP4B1, AP4B1-AS1 (R329C +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47 +1 more	GUncertain significance
Select item 157718	NM_001253852.3(AP4B1):c.1439T>C (p.Leu480Ser)	AP4B1, AP4B1-AS1 (L480S +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47 +4 more	GBenign
Select item 157717	NM_001253852.3(AP4B1):c.1365T>C (p.Tyr455=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 47 +4 more	GBenign/Likely benign
Select item 1344432	NM_001253852.3(AP4B1):c.1337A>G (p.His446Arg)	AP4B1, AP4B1-AS1 (H278R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2179468	NM_001253852.3(AP4B1):c.1331G>A (p.Gly444Asp)	AP4B1, AP4B1-AS1 (G444D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1336477	NM_001253852.3(AP4B1):c.1284G>A (p.Glu428=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1163150	NM_001253852.3(AP4B1):c.1244G>A (p.Cys415Tyr)	AP4B1, AP4B1-AS1 (C247Y +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47 +2 more	GUncertain significance
Select item 588907	NM_001253852.3(AP4B1):c.1217G>A (p.Arg406Gln)	AP4B1-AS1, AP4B1 (R406Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 422147	NM_001253852.3(AP4B1):c.1216C>T (p.Arg406Ter)	AP4B1, AP4B1-AS1 (R406* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 157716	NM_001253852.3(AP4B1):c.1189A>G (p.Ile397Val)	AP4B1, AP4B1-AS1 (I397V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 472193	NM_001253852.3(AP4B1):c.1178G>A (p.Arg393Gln)	AP4B1, AP4B1-AS1 (R393Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 539527	NM_001253852.3(AP4B1):c.1177C>T (p.Arg393Ter)	AP4B1, AP4B1-AS1 (R393* +2 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 47	GPathogenic
Select item 156414	NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs)	AP4B1, AP4B1-AS1 (T219fs +2 more)	Deletion (frameshift variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 210191	NM_001253852.3(AP4B1):c.1111A>G (p.Ile371Val)	AP4B1, AP4B1-AS1 (I371V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance
Select item 434225	NM_001253852.3(AP4B1):c.1082C>T (p.Ala361Val)	AP4B1, AP4B1-AS1 (A361V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +3 more	GUncertain significance
Select item 1125511	NM_001253852.3(AP4B1):c.1071G>A (p.Thr357=)	AP4B1, AP4B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47 +2 more	GLikely benign
Select item 1456718	NM_001253852.3(AP4B1):c.1057C>T (p.Arg353Ter)	AP4B1-AS1, AP4B1 (R185* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic
Select item 1336108	NM_001253852.3(AP4B1):c.1044G>A (p.Val348=)	AP4B1, AP4B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47 +2 more	GConflicting classifications of pathogenicity
Select item 1693977	NM_001253852.3(AP4B1):c.1042G>A (p.Val348Met)	AP4B1, AP4B1-AS1 (V180M +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 47 +2 more	GUncertain significance
Select item 2231123	NM_001253852.3(AP4B1):c.1030A>C (p.Asn344His)	AP4B1, AP4B1-AS1 (N245H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47 +1 more	GUncertain significance
Select item 696255	NM_001253852.3(AP4B1):c.968C>T (p.Ser323Leu)	AP4B1, AP4B1-AS1 (S155L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47 +1 more	GBenign
Select item 588102	NM_001253852.3(AP4B1):c.967T>A (p.Ser323Thr)	AP4B1, AP4B1-AS1 (S323T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 472197	NM_001253852.3(AP4B1):c.912G>A (p.Leu304=)	AP4B1, AP4B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 696837	NM_001253852.3(AP4B1):c.909C>A (p.Ile303=)	AP4B1-AS1, AP4B1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47 +1 more	GLikely benign
Select item 941894	NM_001253852.3(AP4B1):c.894T>A (p.Cys298Ter)	AP4B1, AP4B1-AS1 (C130* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic
Select item 157727	NM_001253852.3(AP4B1):c.803A>G (p.His268Arg)	AP4B1, AP4B1-AS1 (H268R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47 +4 more	GBenign/Likely benign
Select item 218686	NM_001253852.3(AP4B1):c.767C>T (p.Thr256Ile)	AP4B1, AP4B1-AS1 (T256I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +4 more	GLikely benign
Select item 434227	NM_001253852.3(AP4B1):c.682C>T (p.Arg228Cys)	AP4B1, AP4B1-AS1 (R228C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47 +1 more	GUncertain significance
Select item 210196	NM_001253852.3(AP4B1):c.670C>T (p.Arg224Cys)	AP4B1, AP4B1-AS1 (R224C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GUncertain significance
Select item 157725	NM_001253852.3(AP4B1):c.618-13G>C	AP4B1, AP4B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GBenign/Likely benign

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Items: 49