ClinVar for Gene (Select 57595) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3211177	NM_001303512.2(PDZD4):c.746G>A (p.Arg249His)	PDZD4 (R134H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211176	NM_001303512.2(PDZD4):c.745C>T (p.Arg249Cys)	PDZD4 (R134C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211175	NM_001303512.2(PDZD4):c.263G>A (p.Arg88His)	PDZD4 (R7H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3211174	NM_001303512.2(PDZD4):c.1808G>A (p.Gly603Asp)	PDZD4 (G522D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211173	NM_001303512.2(PDZD4):c.1559C>G (p.Pro520Arg)	PDZD4 (P439R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211172	NM_001303512.2(PDZD4):c.1514A>G (p.Asn505Ser)	PDZD4 (N424S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211171	NM_001303512.2(PDZD4):c.1324G>C (p.Glu442Gln)	PDZD4 (E361Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211170	NM_001303512.2(PDZD4):c.1058C>T (p.Pro353Leu)	PDZD4 (P238L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148884	GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1	ABCD1, ACTRT1 +215 more	Copy number loss	See cases	GPathogenic
Select item 3148864	GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1	ABCD1, ACTRT1 +221 more	Copy number loss	not provided	GPathogenic
Select item 3066030	NC_000023.11:g.153670446_154329698dup	ABCD1, ARHGAP4 +59 more	Duplication	Chromosome Xq28 duplication syndrome	GPathogenic
Select item 3062491	GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	TAFAZZIN, TENM1 +241 more	Copy number loss	not specified	GPathogenic
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	ALG13, AMMECR1 +488 more	Copy number gain	not provided	GPathogenic
Select item 2685775	GRCh37/hg19 Xq28(chrX:152941303-153549189)x2	OPN1LW, OPN1MW +20 more	Copy number gain	not provided	GPathogenic
Select item 2685774	GRCh37/hg19 Xq28(chrX:152916854-154775938)x2	GDI1, H2AB1 +58 more	Copy number gain	not provided	GPathogenic
Select item 2685772	GRCh37/hg19 Xq28(chrX:152707335-153624154)x2	ABCD1, ARHGAP4 +29 more	Copy number gain	not provided	GPathogenic
Select item 2685724	GRCh37/hg19 Xq28(chrX:148598351-154943978)x1	ABCD1, ARHGAP4 +110 more	Copy number loss	not provided	GPathogenic
Select item 2685718	GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1	ABCD1, ACTRT1 +246 more	Copy number loss	not provided	GPathogenic
Select item 2685717	GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1	ABCD1, ACTRT1 +258 more	Copy number loss	not provided	GPathogenic
Select item 2661739	NM_001303512.2(PDZD4):c.42G>A (p.Gln14=)	PDZD4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2661738	NM_001303512.2(PDZD4):c.280A>G (p.Met94Val)	PDZD4 (M13V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2661737	NM_001303512.2(PDZD4):c.363C>T (p.Gly121=)	PDZD4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2661736	NM_001303512.2(PDZD4):c.1428C>T (p.Ala476=)	PDZD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661735	NM_001303512.2(PDZD4):c.2214G>A (p.Arg738=)	PDZD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2579706	NM_001303512.2(PDZD4):c.923C>T (p.Pro308Leu)	PDZD4 (P193L +5 more)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 2567493	NM_001303512.2(PDZD4):c.1349C>G (p.Ala450Gly)	PDZD4 (A348G +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2559098	NM_001303512.2(PDZD4):c.1454G>A (p.Ser485Asn)	PDZD4 (S370N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557886	NM_001303512.2(PDZD4):c.1812C>G (p.His604Gln)	PDZD4 (H517Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557511	NM_001303512.2(PDZD4):c.1657C>T (p.Arg553Cys)	PDZD4 (R451C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551606	NM_001303512.2(PDZD4):c.1091G>C (p.Arg364Pro)	PDZD4 (R277P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546758	NM_001303512.2(PDZD4):c.1660C>G (p.Arg554Gly)	PDZD4 (R439G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534428	NM_001303512.2(PDZD4):c.1354A>G (p.Ser452Gly)	PDZD4 (S452G +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2526122	NM_001303512.2(PDZD4):c.1924G>C (p.Val642Leu)	PDZD4 (V527L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2497748	GRCh37/hg19 Xq27.1-28(chrX:139586015-154774957)	ABCD1, AFF2 +140 more	Copy number gain	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 2490155	NM_001303512.2(PDZD4):c.694G>A (p.Asp232Asn)	PDZD4 (D232N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472016	NM_001303512.2(PDZD4):c.382C>T (p.Arg128Cys)	PDZD4 (R128C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2423563	NC_000023.10:g.(?_152014869)_(154563736_?)del	ABCD1, ARHGAP4 +68 more	Deletion	Dyskeratosis congenita	GUncertain significance
Select item 2423047	NC_000023.10:g.(?_152954030)_(153283591_?)dup	SRPK3, ABCD1 +14 more	Duplication	not provided	GUncertain significance
Select item 2422162	NC_000023.10:g.(?_153001546)_(154563736_?)dup	FAM3A, CMC4 +50 more	Duplication	Adrenoleukodystrophy	GUncertain significance
Select item 2422159	NC_000023.10:g.(?_152014869)_(153363122_?)dup	PNMA5, PNMA6A +31 more	Duplication	not provided	GUncertain significance
Select item 2422157	NC_000023.10:g.(?_152014869)_(155171615_?)del	ABCD1, ARHGAP4 +73 more	Deletion	3-Methylglutaconic aciduria type 2 +8 more	GPathogenic
Select item 2405372	NM_001303512.2(PDZD4):c.169C>T (p.Arg57Trp)	PDZD4 (R57W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2382892	NM_001303512.2(PDZD4):c.1599C>G (p.Phe533Leu)	PDZD4 (F418L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381680	NM_001303512.2(PDZD4):c.844C>G (p.Leu282Val)	PDZD4 (L180V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365165	NM_001303512.2(PDZD4):c.170G>A (p.Arg57Gln)	PDZD4 (R57Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2357422	NM_001303512.2(PDZD4):c.472G>A (p.Asp158Asn)	PDZD4 (D158N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342038	NM_001303512.2(PDZD4):c.344C>T (p.Pro115Leu)	PDZD4 (P34L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313433	NM_001303512.2(PDZD4):c.698G>A (p.Arg233Gln)	PDZD4 (R152Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307071	NM_001303512.2(PDZD4):c.347C>A (p.Ala116Glu)	PDZD4 (A110E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290403	NM_001303512.2(PDZD4):c.2038C>T (p.Arg680Cys)	PDZD4 (R599C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289627	NM_001303512.2(PDZD4):c.1528C>T (p.Arg510Trp)	PDZD4 (R504W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276445	NM_001303512.2(PDZD4):c.1126G>A (p.Gly376Ser)	PDZD4 (G370S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270529	NM_001303512.2(PDZD4):c.1523T>G (p.Leu508Trp)	PDZD4 (L502W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265503	NM_001303512.2(PDZD4):c.1651C>T (p.Arg551Cys)	PDZD4 (R436C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253817	NM_001303512.2(PDZD4):c.2269G>A (p.Ala757Thr)	PDZD4 (A676T +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2239852	NM_001303512.2(PDZD4):c.871G>A (p.Glu291Lys)	PDZD4 (E176K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809108	GRCh37/hg19 Xq28(chrX:152805142-153200052)x2	ABCD1, ARHGAP4 +14 more	Copy number gain	not provided	GUncertain significance
Select item 1808722	GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1	ABCD1, ACTRT1 +216 more	Copy number loss	not provided	GPathogenic
Select item 1710916	GRCh37/hg19 Xq27.3-28(chrX:142401540-155233731)x1	ABCD1, BCAP31 +129 more	Copy number loss	See cases	GPathogenic
Select item 1710148	NM_001303512.2(PDZD4):c.2208G>C (p.Lys736Asn)	PDZD4 (K621N +5 more)	Single nucleotide variant (missense variant)	Hand tremor +4 more	GUncertain significance
Select item 1710147	NM_001303512.2(PDZD4):c.10_16del (p.Asn4fs)	PDZD4 (N4fs)	Deletion (frameshift variant +1 more)	Hyperactivity +4 more	GUncertain significance
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	MIR224, MIR424 +793 more	Copy number loss	See cases	GPathogenic
Select item 1706520	GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1	NXF5, NXT2 +414 more	Copy number loss	See cases	GPathogenic
Select item 1705944	GRCh37/hg19 Xq28(chrX:152228560-153146794)x2	BGN, LOC100509091 +21 more	Copy number gain	Autism	GUncertain significance
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	CT55, CT83 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	H2AB3, H2BW1 +502 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +822 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	SCML2, SEPTIN6 +822 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1703577	GRCh37/hg19 Xq28(chrX:152815772-153624215)	ABCD1, ARHGAP4 +26 more	Copy number gain	Global developmental delay	GPathogenic
Select item 1703536	GRCh37/hg19 Xq28(chrX:152372767-155233731)	CLIC2, CMC4 +68 more	Copy number gain	Chromosome Xq28 duplication syndrome +1 more	GPathogenic
Select item 1684654	Single allele	IDH3G, PDZD4 +200 more	Deletion	Immunodeficiency 33 +5 more	GPathogenic
Select item 1526872	GRCh37/hg19 Xq28(chrX:152970475-153524157)	ABCD1, ARHGAP4 +19 more	Copy number gain	not specified	GPathogenic
Select item 1471983	NC_000023.10:g.(?_152986307)_(153593345_?)dup	IRAK1, ARHGAP4 +20 more	Duplication	Melnick-Needles syndrome +3 more	GUncertain significance
Select item 1342311	Single allele	ABCD1, AFF2 +337 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	CXorf51B, GAGE12H +821 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	ABCB7, ABCD1 +821 more	Copy number gain	not provided	GPathogenic
Select item 1341091	GRCh37/hg19 Xq28(chrX:152740984-153431748)x2	ABCD1, ARHGAP4 +23 more	Copy number gain	not provided	GPathogenic
Select item 1341085	GRCh37/hg19 Xq28(chrX:153093501-153792322)x2	ARHGAP4, ATP6AP1 +28 more	Copy number gain	not provided	GPathogenic
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	CXorf49B, CXorf51A +821 more	Copy number loss	not provided	GPathogenic
Select item 992648	GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	ABCB7, ABCD1 +510 more	Copy number gain	not provided	GPathogenic
Select item 983156	GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	ABCB7, ABCD1 +514 more	Copy number gain	See cases	GPathogenic
Select item 980886	GRCh37/hg19 Xq28(chrX:152631130-153240286)x3	ABCD1, ARHGAP4 +23 more	Copy number gain	not provided	GUncertain significance
Select item 979836	GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1	ABCD1, ACSL4 +387 more	Copy number loss	not provided	GPathogenic
Select item 916135	GRCh37/hg19 Xq25-28(chrX:122132166-155097214)	APLN, ABCD1 +221 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 833488	NC_000023.10:g.(?_152954010)_(153363142_?)dup	ABCD1, ARHGAP4 +15 more	Duplication	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 833333	NC_000023.10:g.(?_152954010)_(153141311_?)dup	ABCD1, BCAP31 +7 more	Duplication	Creatine transporter deficiency	GUncertain significance
Select item 831241	NC_000023.10:g.(?_152990712)_(153650075_?)dup	DNASE1L1, EMD +23 more	Duplication	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 816414	GRCh37/hg19 Xq28(chrX:153029046-153567369)x3	PLXNB3, L1CAM +17 more	Copy number gain	not provided	GPathogenic
Select item 816413	GRCh37/hg19 Xq28(chrX:153023149-153345755)x2	ARHGAP4, HCFC1 +12 more	Copy number gain	not provided	GLikely pathogenic
Select item 816411	GRCh37/hg19 Xq28(chrX:152516781-153368573)x2	SSR4, ZNF275 +26 more	Copy number gain	not provided	GPathogenic
Select item 816368	GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1	ABCD1, ACSL4 +398 more	Copy number loss	not provided	GPathogenic
Select item 816364	GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1	ABCD1, ACSL4 +410 more	Copy number loss	not provided	GPathogenic
Select item 688406	GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1	ABCD1, ACTRT1 +220 more	Copy number loss	not provided	GPathogenic
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RBMXL3, RENBP +821 more	Copy number loss	not provided	GPathogenic
Select item 687763	GRCh37/hg19 Xq28(chrX:152398094-153086545)x2	ABCD1, ATP2B3 +18 more	Copy number gain	not provided	GUncertain significance
Select item 687519	GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1	RBMX2, RBMXL3 +525 more	Copy number loss	not provided	GUncertain significance
Select item 687132	GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1	ABCD1, ACTRT1 +262 more	Copy number loss	not provided	GPathogenic
Select item 686250	GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1	ABCD1, ACSL4 +320 more	Copy number loss	not provided	GPathogenic

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