IMPA1[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 59788	GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3	ADHFE1, ARFGEF1 +417 more	Copy number gain	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000591, LOC130000592 +470 more	Copy number gain	See cases	GPathogenic
Select item 57417	GRCh38/hg38 8q21.11-21.13(chr8:73519300-82655582)x1	CASC9, CHMP4C +169 more	Copy number loss	See cases	GPathogenic
Select item 60377	GRCh38/hg38 8q21.11-21.2(chr8:73879385-85611466)x1	LOC130000646, LOC130000647 +191 more	Copy number loss	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 60379	GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1	ATP6V0D2, C8orf88 +217 more	Copy number loss	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	See cases	GPathogenic
Select item 1338848	GRCh38/hg38 8q21.13(chr8:81061071-81682394)	FABP12, FABP4 +23 more	Copy number gain	Diaphragmatic hernia	GUncertain significance
Select item 148749	GRCh38/hg38 8q21.13(chr8:81188681-82043830)x3	CHMP4C, FABP12 +19 more	Copy number gain	See cases	GLikely benign
Select item 1679268	NM_005536.4(IMPA1):c.817C>T (p.Arg273Ter)	IMPA1 (R273* +1 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal recessive 59	GLikely pathogenic
Select item 2287176	NM_005536.4(IMPA1):c.808C>T (p.Pro270Ser)	IMPA1 (P270S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277588	NM_005536.4(IMPA1):c.787G>A (p.Ala263Thr)	IMPA1 (A263T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558200	NM_005536.4(IMPA1):c.784A>G (p.Ile262Val)	IMPA1 (I321V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285967	NM_005536.4(IMPA1):c.743G>A (p.Arg248Gln)	IMPA1 (R248Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1029977	NM_005536.4(IMPA1):c.719G>A (p.Gly240Asp)	IMPA1 (G240D +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 59	GUncertain significance
Select item 2220057	NM_005536.4(IMPA1):c.685A>T (p.Thr229Ser)	IMPA1 (T229S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556168	NM_005536.4(IMPA1):c.619G>A (p.Gly207Arg)	IMPA1 (G266R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1031547	NM_005536.4(IMPA1):c.613A>G (p.Thr205Ala)	IMPA1 (T264A +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 59 +1 more	GUncertain significance
Select item 2237771	NM_005536.4(IMPA1):c.536T>C (p.Met179Thr)	IMPA1 (M179T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294669	NM_005536.4(IMPA1):c.497C>T (p.Ser166Phe)	IMPA1 (S225F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 375412	NM_005536.4(IMPA1):c.489_493dup (p.Ser165fs)	IMPA1 (S165fs +1 more)	Duplication (frameshift variant +1 more)	Intellectual disability, autosomal recessive 59	GPathogenic
Select item 2220527	NM_005536.4(IMPA1):c.460A>G (p.Ile154Val)	IMPA1 (I154V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285968	NM_005536.4(IMPA1):c.407G>A (p.Gly136Glu)	IMPA1 (G195E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1031546	NM_005536.4(IMPA1):c.379G>C (p.Glu127Gln)	IMPA1 (E127Q +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 59	GUncertain significance
Select item 2511352	NM_005536.4(IMPA1):c.377T>C (p.Val126Ala)	IMPA1 (V185A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3341538	NM_005536.4(IMPA1):c.325A>G (p.Ile109Val)	IMPA1 (I109V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 716533	NM_005536.4(IMPA1):c.303-9T>A	IMPA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 764254	NM_005536.4(IMPA1):c.246C>A (p.Thr82=)	IMPA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3109556	NM_005536.4(IMPA1):c.137C>T (p.Thr46Met)	IMPA1 (T105M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713363	NM_005536.4(IMPA1):c.115C>T (p.Pro39Ser)	IMPA1 (P39S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3109555	NM_005536.4(IMPA1):c.110G>A (p.Ser37Asn)	IMPA1 (S96N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285969	NM_005536.4(IMPA1):c.102G>A (p.Met34Ile)	IMPA1 (M34I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109554	NM_005536.4(IMPA1):c.95A>G (p.Asn32Ser)	IMPA1 (N91S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109553	NM_005536.4(IMPA1):c.59G>A (p.Gly20Glu)	IMPA1 (G79E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780760	NM_005536.4(IMPA1):c.-25+424A>G	IMPA1 (K30E)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3109557	NM_005536.4(IMPA1):c.-25+389T>C	IMPA1 (V18A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255335	NM_005536.4(IMPA1):c.-25+349C>A	IMPA1 (P5T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231215	NM_005536.4(IMPA1):c.-25+345G>C	IMPA1 (Q3H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063023	GRCh37/hg19 8q21.13-21.2(chr8:81829690-85172228)x3	CHMP4C, FABP12 +10 more	Copy number gain	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3063009	GRCh37/hg19 8q21.13(chr8:82540245-82662642)x1	CHMP4C, IMPA1 +2 more	Copy number loss	not specified	GUncertain significance
Select item 2684546	GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3	ANKRD46, ATP6V0D2 +96 more	Copy number gain	not provided	GPathogenic
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 1807951	GRCh37/hg19 8q21.12-21.13(chr8:79876744-83112711)x3	CHMP4C, FABP12 +15 more	Copy number gain	not provided	GUncertain significance
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527449	GRCh37/hg19 8q21.13(chr8:82353502-82673333)	CHMP4C, FABP12 +6 more	Copy number gain	not specified	GUncertain significance
Select item 1527447	GRCh37/hg19 8q21.13(chr8:82349850-84358646)	CHMP4C, FABP12 +7 more	Copy number loss	not specified	GUncertain significance
Select item 1527444	GRCh37/hg19 8q21.11-21.3(chr8:77906471-88917707)	ATP6V0D2, CA1 +36 more	Copy number loss	not specified	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1341980	GRCh37/hg19 8q21.11-21.3(chr8:75904944-87097083)x1	CA1, CA13 +31 more	Copy number loss	Chromosome 8q21.11 deletion syndrome	GPathogenic
Select item 1340788	GRCh37/hg19 8q21.13-21.2(chr8:81829690-85173253)x3	CHMP4C, FABP12 +10 more	Copy number gain	not provided	GUncertain significance
Select item 815139	GRCh37/hg19 8q21.13(chr8:82581743-82652385)x1	ZFAND1, CHMP4C +2 more	Copy number loss	not provided	GUncertain significance
Select item 688202	GRCh37/hg19 8q21.13(chr8:82571433-82604029)x1	IMPA1	Copy number loss	not provided	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 687123	GRCh37/hg19 8q21.13-21.2(chr8:82196649-85352499)x1	CHMP4C, FABP12 +9 more	Copy number loss	not provided	GUncertain significance
Select item 686230	GRCh37/hg19 8q21.13(chr8:82276728-82641699)x1	FABP12, FABP4 +5 more	Copy number loss	not provided	GUncertain significance
Select item 443624	GRCh37/hg19 8q21.11-21.13(chr8:77751515-83516216)x1	CHMP4C, FABP12 +20 more	Copy number loss	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 442124	GRCh37/hg19 8q21.13(chr8:82534933-83229899)x3	CHMP4C, IMPA1 +3 more	Copy number gain	See cases	GUncertain significance
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic

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Items: 73