Related gene-specific medical variations for Gene (Select 10717) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3300889	NM_001253852.3(AP4B1):c.742A>G (p.Ser248Gly)	AP4B1, AP4B1-AS1 (S149G +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3300878	NM_001253852.3(AP4B1):c.1774T>G (p.Ser592Ala)	AP4B1, AP4B1-AS1 (S592A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3300858	NM_001253852.3(AP4B1):c.1018G>A (p.Val340Met)	AP4B1, AP4B1-AS1 (V241M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3300842	NM_001253852.3(AP4B1):c.1604G>T (p.Ser535Ile)	AP4B1, AP4B1-AS1 (S367I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3300826	NM_001253852.3(AP4B1):c.869G>A (p.Arg290His)	AP4B1, AP4B1-AS1 (R122H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3251199	NM_001253852.3(AP4B1):c.3del (p.Met1fs)	AP4B1, DCLRE1B +1 more (M1fs)	Deletion (frameshift variant +3 more)	not provided	GUncertain significance
Select item 3127546	NM_001253852.3(AP4B1):c.1871G>A (p.Arg624His)	AP4B1, AP4B1-AS1 (R624H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3127543	NM_001253852.3(AP4B1):c.1070C>T (p.Thr357Met)	AP4B1, AP4B1-AS1 (T189M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3127542	NM_001253852.3(AP4B1):c.1067G>A (p.Cys356Tyr)	AP4B1, AP4B1-AS1 (C356Y +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3127541	NM_001253852.3(AP4B1):c.1028A>C (p.Glu343Ala)	AP4B1, AP4B1-AS1 (E244A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3058417	NM_001253852.3(AP4B1):c.1134C>A (p.Tyr378Ter)	AP4B1, AP4B1-AS1 (Y210* +2 more)	Single nucleotide variant (nonsense)	AP4B1-related disorder	GLikely pathogenic
Select item 3034322	NM_001253852.3(AP4B1):c.1683C>T (p.Asn561=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	AP4B1-related disorder	GLikely benign
Select item 2971411	NM_001253852.3(AP4B1):c.52_53del (p.Cys18fs)	AP4B1, DCLRE1B +1 more (C18fs)	Microsatellite (frameshift variant +1 more)	Hereditary spastic paraplegia 47	GPathogenic
Select item 2898995	NM_001253852.3(AP4B1):c.1821G>A (p.Glu607=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 2847987	NM_001253852.3(AP4B1):c.1792+8C>T	AP4B1, AP4B1-AS1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 2842700	NM_001253852.3(AP4B1):c.1899A>G (p.Lys633=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 2799609	NM_001253852.3(AP4B1):c.1792+11T>C	AP4B1, AP4B1-AS1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 2783172	NM_001253852.3(AP4B1):c.41A>G (p.Lys14Arg)	AP4B1, DCLRE1B +1 more (K14R)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 2775826	NM_001253852.3(AP4B1):c.2179T>C (p.Leu727=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 2752455	NM_001253852.3(AP4B1):c.1324_1331del (p.Leu442fs)	AP4B1, AP4B1-AS1 (L343fs +2 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 47	GPathogenic
Select item 2724633	NM_001253852.3(AP4B1):c.2040A>G (p.Lys680=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 2695240	NM_001253852.3(AP4B1):c.1106_1114+8del	AP4B1, AP4B1-AS1	Deletion (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47	GLikely pathogenic
Select item 2639004	NM_001253852.3(AP4B1):c.1557T>C (p.Tyr519=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639003	NM_001253852.3(AP4B1):c.1918G>T (p.Val640Phe)	AP4B1, AP4B1-AS1 (V472F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2627503	NM_001253852.3(AP4B1):c.1612del (p.Ser538fs)	AP4B1, AP4B1-AS1 (S370fs +2 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 47	GLikely pathogenic
Select item 2623900	NM_001253852.3(AP4B1):c.724A>C (p.Ser242Arg)	AP4B1, AP4B1-AS1 (S143R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2622626	NM_001253852.3(AP4B1):c.1951G>A (p.Glu651Lys)	AP4B1, AP4B1-AS1 (E483K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604229	NM_001253852.3(AP4B1):c.1930C>G (p.Gln644Glu)	AP4B1, AP4B1-AS1 (Q545E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2584921	NM_001253852.3(AP4B1):c.1066del (p.Cys356fs)	AP4B1, AP4B1-AS1 (C257fs +2 more)	Deletion (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47	GLikely pathogenic
Select item 2578580	NM_001253852.3(AP4B1):c.992_999del (p.Gln331fs)	AP4B1, AP4B1-AS1 (Q163fs +2 more)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2554151	NM_001253852.3(AP4B1):c.1318A>C (p.Ile440Leu)	AP4B1, AP4B1-AS1 (I440L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549842	NM_001253852.3(AP4B1):c.2079C>A (p.Phe693Leu)	AP4B1, AP4B1-AS1 (F693L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538515	NM_001253852.3(AP4B1):c.1490G>A (p.Arg497His)	AP4B1, AP4B1-AS1 (R497H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490364	NM_001253852.3(AP4B1):c.1634T>C (p.Leu545Ser)	AP4B1, AP4B1-AS1 (L377S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476813	NM_001253852.3(AP4B1):c.1823G>A (p.Arg608Lys)	AP4B1, AP4B1-AS1 (R608K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2439136	NM_001253852.3(AP4B1):c.2131A>C (p.Lys711Gln)	AP4B1, AP4B1-AS1 (K543Q +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 2419831	NM_001253852.3(AP4B1):c.113+13T>G	AP4B1, LOC129931235	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 2417041	NM_001253852.3(AP4B1):c.2123_2133del (p.Ile708fs)	AP4B1, AP4B1-AS1 (I540fs +2 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 2397732	NM_001253852.3(AP4B1):c.1922C>A (p.Ala641Asp)	AP4B1, AP4B1-AS1 (A542D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386563	NM_001253852.3(AP4B1):c.856T>G (p.Ser286Ala)	AP4B1, AP4B1-AS1 (S286A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2373635	NM_001253852.3(AP4B1):c.952T>A (p.Phe318Ile)	AP4B1, AP4B1-AS1 (F150I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2330932	NM_001253852.3(AP4B1):c.1630C>T (p.Leu544Phe)	AP4B1, AP4B1-AS1 (L544F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294651	NM_001253852.3(AP4B1):c.1249G>A (p.Glu417Lys)	AP4B1, AP4B1-AS1 (E417K +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2257927	NM_001253852.3(AP4B1):c.1720A>C (p.Thr574Pro)	AP4B1, AP4B1-AS1 (T574P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256479	NM_001253852.3(AP4B1):c.38T>C (p.Leu13Pro)	AP4B1, DCLRE1B +1 more (L13P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2204438	NM_001253852.3(AP4B1):c.778C>A (p.Leu260Met)	AP4B1, AP4B1-AS1 (L92M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47 +1 more	GUncertain significance
Select item 2202043	NM_001253852.3(AP4B1):c.2211A>G (p.Ile737Met)	AP4B1, AP4B1-AS1 (I569M +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
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 2200943	NM_001253852.3(AP4B1):c.1023C>T (p.Asn341=)	AP4B1, AP4B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47	GLikely benign
Select item 2191238	NM_001253852.3(AP4B1):c.1560C>T (p.Arg520=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 2183259	NM_001253852.3(AP4B1):c.113G>C (p.Arg38Thr)	AP4B1, LOC129931235 (R38T)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 2182991	NM_001253852.3(AP4B1):c.1724T>G (p.Ile575Ser)	AP4B1, AP4B1-AS1 (I407S +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	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 2176039	NM_001253852.3(AP4B1):c.1585G>A (p.Val529Ile)	AP4B1, AP4B1-AS1 (V430I +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 2172351	NM_001253852.3(AP4B1):c.1199-13G>A	AP4B1, AP4B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47	GLikely benign
Select item 2162467	NM_001253852.3(AP4B1):c.87C>T (p.Tyr29=)	LOC129931235, AP4B1 +1 more	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 47	GLikely benign
Select item 2147476	NM_001253852.3(AP4B1):c.1576A>G (p.Ile526Val)	AP4B1, AP4B1-AS1 (I427V +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47 +1 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 2136478	NM_001253852.3(AP4B1):c.113+10A>G	AP4B1, LOC129931235	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 2128608	NM_001253852.3(AP4B1):c.1708G>A (p.Ala570Thr)	AP4B1, AP4B1-AS1 (A570T +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 2121991	NM_001253852.3(AP4B1):c.618-12T>C	AP4B1, AP4B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47	GLikely benign
Select item 2117969	NM_001253852.3(AP4B1):c.1198+7C>A	AP4B1, AP4B1-AS1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 2116482	NM_001253852.3(AP4B1):c.1901C>G (p.Thr634Ser)	AP4B1, AP4B1-AS1 (T634S +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 2106782	NM_001253852.3(AP4B1):c.876_877del (p.Cys293fs)	AP4B1, AP4B1-AS1 (C125fs +2 more)	Microsatellite (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47	GPathogenic
Select item 2105377	NM_001253852.3(AP4B1):c.1114+14C>T	AP4B1, AP4B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47	GLikely benign
Select item 2086838	NM_001253852.3(AP4B1):c.1939C>G (p.Pro647Ala)	AP4B1, AP4B1-AS1 (P479A +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47 +1 more	GUncertain significance
Select item 2082118	NM_001253852.3(AP4B1):c.901C>T (p.Arg301Cys)	AP4B1, AP4B1-AS1 (R133C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 2080510	NM_001253852.3(AP4B1):c.1747C>T (p.Arg583Cys)	AP4B1, AP4B1-AS1 (R415C +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 2076208	NM_001253852.3(AP4B1):c.1588A>G (p.Lys530Glu)	AP4B1, AP4B1-AS1 (K362E +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 2073686	NM_001253852.3(AP4B1):c.639G>T (p.Trp213Cys)	AP4B1, AP4B1-AS1 (W114C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 2072057	NM_001253852.3(AP4B1):c.810A>G (p.Gln270=)	AP4B1, AP4B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 2066994	NM_001253852.3(AP4B1):c.113+10A>T	AP4B1, LOC129931235	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 2058903	NM_001253852.3(AP4B1):c.902G>A (p.Arg301His)	AP4B1, AP4B1-AS1 (R301H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47 +1 more	GUncertain significance
Select item 2057128	NM_001253852.3(AP4B1):c.1644G>A (p.Pro548=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 2055700	NM_001253852.3(AP4B1):c.1786G>A (p.Ala596Thr)	AP4B1, AP4B1-AS1 (A428T +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 2054931	NM_001253852.3(AP4B1):c.1510+12A>G	AP4B1, AP4B1-AS1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 2048203	NM_001253852.3(AP4B1):c.678A>C (p.Gln226His)	AP4B1, AP4B1-AS1 (Q127H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 2047934	NM_001253852.3(AP4B1):c.1463C>A (p.Pro488His)	AP4B1, AP4B1-AS1 (P320H +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 2045618	NM_001253852.3(AP4B1):c.1199-18C>T	AP4B1, AP4B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47	GLikely benign
Select item 2042180	NM_001253852.3(AP4B1):c.2162A>G (p.Asn721Ser)	AP4B1, AP4B1-AS1 (N721S +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 2041494	NM_001253852.3(AP4B1):c.820C>T (p.Leu274Phe)	AP4B1, AP4B1-AS1 (L106F +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2039934	NM_001253852.3(AP4B1):c.1459C>A (p.Arg487=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 2018892	NM_001253852.3(AP4B1):c.1863C>G (p.Val621=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 2014062	NM_001253852.3(AP4B1):c.654A>G (p.Val218=)	AP4B1, AP4B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47	GLikely benign
Select item 2005351	NM_001253852.3(AP4B1):c.952T>C (p.Phe318Leu)	AP4B1, AP4B1-AS1 (F318L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 1993045	NM_001253852.3(AP4B1):c.1112_1113insGGAGC (p.Ile371fs)	AP4B1, AP4B1-AS1 (I203fs +2 more)	Insertion (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47	GPathogenic
Select item 1993044	NM_001253852.3(AP4B1):c.1122_1123insTTGTAGGTGCCAGGACTTCTTTTGTAGGT (p.Ala375delinsLeuTer)	AP4B1, AP4B1-AS1	Insertion (nonsense)	Hereditary spastic paraplegia 47	GPathogenic
Select item 1991601	NM_001253852.3(AP4B1):c.1181A>C (p.Gln394Pro)	AP4B1, AP4B1-AS1 (Q226P +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 1967620	NM_001253852.3(AP4B1):c.1511-19A>G	AP4B1, AP4B1-AS1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 1959401	NM_001253852.3(AP4B1):c.1177C>A (p.Arg393=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 1938390	NM_001253852.3(AP4B1):c.113+20G>T	AP4B1, LOC129931235	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 1915660	NM_001253852.3(AP4B1):c.1444C>T (p.Arg482Cys)	AP4B1, AP4B1-AS1 (R314C +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 1908939	NM_001253852.3(AP4B1):c.939C>T (p.Ser313=)	AP4B1, AP4B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47	GLikely benign
Select item 1878601	NM_001253852.3(AP4B1):c.37C>A (p.Leu13Met)	LOC129931235, DCLRE1B +1 more (L13M)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 1805782	NM_001253852.3(AP4B1):c.1075G>A (p.Val359Met)	AP4B1, AP4B1-AS1 (V191M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	AP4-related intellectual disability and spastic paraplegia	GUncertain significance
Select item 1783114	NM_001253852.3(AP4B1):c.1945C>T (p.Arg649Trp)	AP4B1, AP4B1-AS1 (R550W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1778002	NM_001253852.3(AP4B1):c.1686A>G (p.Thr562=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1776664	NM_001253852.3(AP4B1):c.1624C>T (p.Leu542Phe)	AP4B1, AP4B1-AS1 (L443F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1775518	NM_001253852.3(AP4B1):c.1571T>C (p.Val524Ala)	AP4B1, AP4B1-AS1 (V356A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign

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