"GeneDx"[submitter] AND "AP4B1"[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 1198116	NM_001253852.3(AP4B1):c.*301T>C	AP4B1, AP4B1-AS1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2201440	NM_001253852.3(AP4B1):c.1919T>G (p.Val640Gly)	AP4B1, AP4B1-AS1 (V472G +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47 +1 more	GUncertain significance
Select item 654325	NM_001253852.3(AP4B1):c.1868A>G (p.Asn623Ser)	AP4B1, AP4B1-AS1 (N455S +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47 +1 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 1207494	NM_001253852.3(AP4B1):c.1792+85A>G	AP4B1, AP4B1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 623700	NM_001253852.3(AP4B1):c.1557T>A (p.Tyr519Ter)	AP4B1, AP4B1-AS1 (Y519* +2 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 47 +2 more	GPathogenic/Likely pathogenic
Select item 515053	NM_001253852.3(AP4B1):c.1512G>A (p.Glu504=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1310570	NM_001253852.3(AP4B1):c.1511-6C>G	AP4B1, AP4B1-AS1	Single nucleotide variant (intron variant)	not provided	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 1300361	NM_001253852.3(AP4B1):c.1336C>T (p.His446Tyr)	AP4B1, AP4B1-AS1 (H278Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1174650	NM_001253852.3(AP4B1):c.1331G>T (p.Gly444Val)	AP4B1, AP4B1-AS1 (G276V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 389026	NM_001253852.3(AP4B1):c.1328T>C (p.Leu443Pro)	AP4B1, AP4B1-AS1 (L443P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1213075	NM_001253852.3(AP4B1):c.1303-160A>G	AP4B1, AP4B1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1240744	NM_001253852.3(AP4B1):c.1303-206T>C	AP4B1, AP4B1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203874	NM_001253852.3(AP4B1):c.1302+234TTTTG[2]	AP4B1, AP4B1-AS1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1292890	NM_001253852.3(AP4B1):c.1302+204G>C	AP4B1, AP4B1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
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 2144496	NM_001253852.3(AP4B1):c.1240C>T (p.Gln414Ter)	AP4B1, AP4B1-AS1 (Q315* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic
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 1187872	NM_001253852.3(AP4B1):c.1199-222A>G	AP4B1, AP4B1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 1311445	NM_001253852.3(AP4B1):c.1118G>A (p.Gly373Asp)	AP4B1, AP4B1-AS1 (G205D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 975957	NM_001253852.3(AP4B1):c.1115-2A>G	AP4B1, AP4B1-AS1	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 47 +1 more	GConflicting classifications of pathogenicity
Select item 1201394	NM_001253852.3(AP4B1):c.1115-116dup	AP4B1, AP4B1-AS1	Duplication (intron variant)	not provided	GLikely benign
Select item 1213358	NM_001253852.3(AP4B1):c.1115-103del	AP4B1, AP4B1-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 1232585	NM_001253852.3(AP4B1):c.1114+162dup	AP4B1, AP4B1-AS1	Duplication (intron variant)	not provided	GBenign
Select item 1215789	NM_001253852.3(AP4B1):c.1114+98T>C	AP4B1, AP4B1-AS1	Single nucleotide variant (intron variant)	not provided	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 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 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 1311444	NM_001253852.3(AP4B1):c.770A>G (p.Lys257Arg)	AP4B1, AP4B1-AS1 (K158R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 386852	NM_001253852.3(AP4B1):c.755T>C (p.Val252Ala)	AP4B1, AP4B1-AS1 (V252A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 817040	NM_001253852.3(AP4B1):c.664del (p.Leu222fs)	AP4B1, AP4B1-AS1 (L222fs +2 more)	Deletion (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic
Select item 390620	NM_001253852.3(AP4B1):c.647C>G (p.Ala216Gly)	AP4B1, AP4B1-AS1 (A216G +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	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
Select item 1187595	NM_001253852.3(AP4B1):c.618-321G>T	AP4B1, AP4B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 520727	NM_001253852.3(AP4B1):c.617G>A (p.Arg206Gln)	AP4B1-AS1, AP4B1 (R206Q +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Hereditary spastic paraplegia 47 +2 more	GConflicting classifications of pathogenicity
Select item 157724	NM_001253852.3(AP4B1):c.577G>A (p.Val193Ile)	AP4B1 (V193I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 157723	NM_001253852.3(AP4B1):c.576C>T (p.Gly192=)	AP4B1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 47 +3 more	GBenign
Select item 1703332	NM_001253852.3(AP4B1):c.443_444delinsC (p.His148fs)	AP4B1 (H148fs +1 more)	Indel (frameshift variant +1 more)	not provided	GPathogenic
Select item 157722	NM_001253852.3(AP4B1):c.402A>C (p.Ser134=)	AP4B1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 47 +4 more	GBenign
Select item 1219482	NM_001253852.3(AP4B1):c.339-87A>C	AP4B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1310614	NM_001253852.3(AP4B1):c.319C>G (p.Arg107Gly)	AP4B1 (R107G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 157720	NM_001253852.3(AP4B1):c.240A>G (p.Pro80=)	AP4B1	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 47 +2 more	GBenign/Likely benign
Select item 1310613	NM_001253852.3(AP4B1):c.239C>T (p.Pro80Leu)	AP4B1 (P80L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 393216	NM_001253852.3(AP4B1):c.230C>T (p.Pro77Leu)	AP4B1 (P77L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 472194	NM_001253852.3(AP4B1):c.175A>G (p.Thr59Ala)	AP4B1 (T59A)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 696207	NM_001253852.3(AP4B1):c.151A>C (p.Met51Leu)	AP4B1 (M51L)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 47 +2 more	GBenign/Likely benign
Select item 1261163	NM_001253852.3(AP4B1):c.113+193C>G	AP4B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 388217	NM_001253852.3(AP4B1):c.-66C>G	AP4B1, DCLRE1B +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 380767	NM_006594.5(AP4B1):c.-78C>T	AP4B1, DCLRE1B +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1271892	NM_001319947.2(DCLRE1B):c.-331+281T>C	LOC129931235, AP4B1 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1278004	NC_000001.11:g.113905154C>G	AP4B1, DCLRE1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 225770	NM_022836.4(DCLRE1B):c.181C>T (p.His61Tyr)	DCLRE1B, AP4B1 (H61Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign

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Items: 62