ClinVar for Gene (Select 23244) - ClinVar

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Links from Gene

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3305607	NM_001100399.2(PDS5A):c.290T>C (p.Ile97Thr)	PDS5A (I97T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305606	NM_001100399.2(PDS5A):c.3079A>C (p.Ile1027Leu)	PDS5A (I1027L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305605	NM_001100399.2(PDS5A):c.3484A>G (p.Thr1162Ala)	PDS5A (T1162A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3305604	NM_001100399.2(PDS5A):c.49G>A (p.Val17Met)	PDS5A (V17M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305602	NM_001100399.2(PDS5A):c.32C>T (p.Thr11Ile)	PDS5A (T11I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211078	NM_001100399.2(PDS5A):c.715A>G (p.Ile239Val)	PDS5A (I239V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211077	NM_001100399.2(PDS5A):c.3827C>G (p.Ser1276Cys)	PDS5A (S1276C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211076	NM_001100399.2(PDS5A):c.326C>G (p.Ser109Cys)	PDS5A (S109C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211075	NM_001100399.2(PDS5A):c.3251G>A (p.Cys1084Tyr)	PDS5A (C1084Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211074	NM_001100399.2(PDS5A):c.2559G>T (p.Gln853His)	PDS5A (Q853H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211073	NM_001100399.2(PDS5A):c.2515A>G (p.Ile839Val)	PDS5A (I839V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211072	NM_001100399.2(PDS5A):c.2478A>C (p.Glu826Asp)	PDS5A (E826D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211071	NM_001100399.2(PDS5A):c.2383A>G (p.Met795Val)	PDS5A (M795V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 2654733	NM_001100399.2(PDS5A):c.693A>G (p.Leu231=)	PDS5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2624360	NM_001100399.2(PDS5A):c.1624A>G (p.Ile542Val)	PDS5A (I542V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621072	NM_001100399.2(PDS5A):c.601G>A (p.Val201Ile)	PDS5A (V201I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619937	NM_001100399.2(PDS5A):c.3281A>G (p.Asn1094Ser)	PDS5A (N1094S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614364	NM_001100399.2(PDS5A):c.3858T>G (p.Asp1286Glu)	PDS5A (D1286E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2569750	NM_001100399.2(PDS5A):c.3829G>C (p.Glu1277Gln)	PDS5A (E1277Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546762	NM_001100399.2(PDS5A):c.3248T>G (p.Leu1083Arg)	PDS5A (L1083R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544162	NM_001100399.2(PDS5A):c.2494G>A (p.Val832Ile)	PDS5A (V832I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525417	NM_001100399.2(PDS5A):c.3758C>G (p.Thr1253Arg)	PDS5A (T1253R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525049	NM_001100399.2(PDS5A):c.2321T>A (p.Ile774Lys)	PDS5A (I774K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2505087	NM_001100399.2(PDS5A):c.663_666del (p.Lys222fs)	PDS5A (K222fs)	Microsatellite (frameshift variant)	Autism spectrum disorder	Gnot provided
Select item 2344098	NM_001100399.2(PDS5A):c.3430G>A (p.Val1144Ile)	PDS5A (V1144I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333814	NM_001100399.2(PDS5A):c.2648C>G (p.Ser883Cys)	PDS5A (S883C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331802	NM_001100399.2(PDS5A):c.3143C>A (p.Ala1048Asp)	PDS5A (A1048D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330801	NM_001100399.2(PDS5A):c.1645C>T (p.Pro549Ser)	PDS5A (P549S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311197	NM_001100399.2(PDS5A):c.1993G>A (p.Val665Ile)	PDS5A (V665I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301090	NM_001100399.2(PDS5A):c.2809C>T (p.His937Tyr)	PDS5A (H937Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290528	NM_001100399.2(PDS5A):c.3404C>T (p.Pro1135Leu)	PDS5A (P1135L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288921	NM_001100399.2(PDS5A):c.457A>G (p.Ile153Val)	PDS5A (I153V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282683	NM_001100399.2(PDS5A):c.852G>A (p.Met284Ile)	PDS5A (M284I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271367	NM_001100399.2(PDS5A):c.3260A>G (p.Asn1087Ser)	PDS5A (N1087S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263034	NM_001100399.2(PDS5A):c.905T>C (p.Val302Ala)	PDS5A (V302A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254087	NM_001100399.2(PDS5A):c.1402A>G (p.Ile468Val)	PDS5A (I468V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251694	NM_001100399.2(PDS5A):c.2951A>G (p.Lys984Arg)	PDS5A (K984R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1411128	NC_000004.11:g.(?_38765721)_(41750627_?)dup	KLB, UGDH +22 more	Duplication	Lipoic acid synthetase deficiency	GUncertain significance
Select item 1339994	GRCh37/hg19 4p14(chr4:39946583-40004354)x1	PDS5A	Copy number loss	not provided	GUncertain significance
Select item 984549	NM_001100399.2(PDS5A):c.2153+1G>A	PDS5A	Single nucleotide variant (splice donor variant)	Neurodevelopmental abnormality	GLikely benign
Select item 980663	GRCh37/hg19 4p14(chr4:39116340-40293329)x3	WDR19, UBE2K +10 more	Copy number gain	not provided	GUncertain significance
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic
Select item 523195	NM_001100399.2(PDS5A):c.654+5G>C	PDS5A	Single nucleotide variant (intron variant)	PDS5A-related disorder	GUncertain significance
Select item 523194	NM_001100399.2(PDS5A):c.2275G>T (p.Glu759Ter)	PDS5A (E759*)	Single nucleotide variant (nonsense)	PDS5A-related disorder	GUncertain significance
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	HTRA3, HTT +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253447	GRCh37/hg19 4p14-11(chr4:38532827-49064044)x3	CHRNA9, CWH43 +54 more	Copy number gain	See cases	GPathogenic
Select item 151082	GRCh38/hg38 4p14(chr4:39966405-40097540)x3	LOC123477730, LOC129992469 +7 more	Copy number gain	See cases	GUncertain significance
Select item 148977	GRCh38/hg38 4p14-12(chr4:39444586-46117146)x3	APBB2, ATP8A1 +160 more	Copy number gain	See cases	GUncertain significance
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 57857	GRCh38/hg38 4p14(chr4:39571714-40297938)x3	LOC123477730, LOC126807038 +36 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 61