33[geneid] - ClinVar

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Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 150477	GRCh38/hg38 2q33.3-34(chr2:207058886-211245603)x1	ACADL, C2orf80 +96 more	Copy number loss	See cases	GPathogenic
Select item 152244	GRCh38/hg38 2q34(chr2:210165293-211245653)x3	ACADL, CPS1 +10 more	Copy number gain	See cases	GUncertain significance
Select item 333988	NM_001608.4(ACADL):c.*621G>A	ACADL	Single nucleotide variant (3 prime UTR variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 3051681	NM_001608.4(ACADL):c.1199+9A>G	ACADL	Single nucleotide variant (intron variant)	ACADL-related disorder	GLikely benign
Select item 2511244	NM_001608.4(ACADL):c.1185G>C (p.Glu395Asp)	ACADL (E395D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260797	NM_001608.4(ACADL):c.1150G>A (p.Val384Ile)	ACADL (V384I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034814	NM_001608.4(ACADL):c.1112+5G>A	ACADL	Single nucleotide variant (intron variant)	ACADL-related disorder	GLikely benign
Select item 3045444	NM_001608.4(ACADL):c.1104G>A (p.Ala368=)	ACADL	Single nucleotide variant (synonymous variant)	ACADL-related disorder	GLikely benign
Select item 2495395	NM_001608.4(ACADL):c.1103C>T (p.Ala368Val)	ACADL (A368V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242033	NM_001608.4(ACADL):c.1099A>G (p.Met367Val)	ACADL (M367V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364025	NM_001608.4(ACADL):c.1034G>A (p.Arg345Gln)	ACADL (R345Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1620	NM_001608.4(ACADL):c.997A>C (p.Lys333Gln)	ACADL (K333Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3134833	NM_001608.4(ACADL):c.992A>G (p.Gln331Arg)	ACADL (Q331R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134828	NM_001608.4(ACADL):c.956C>T (p.Ala319Val)	ACADL (A319V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1701408	NM_001608.4(ACADL):c.939T>C (p.Tyr313=)	ACADL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 632339	NM_001608.4(ACADL):c.928_933delinsCATGAATGTTATGTTT (p.Thr310fs)	ACADL (T310fs)	Indel (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 439352	NM_001608.4(ACADL):c.932G>T (p.Arg311Met)	ACADL (R311M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 811587	NM_001608.4(ACADL):c.928_929del (p.Thr310fs)	ACADL (T310fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2304684	NM_001608.4(ACADL):c.922G>A (p.Glu308Lys)	ACADL (E308K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2614843	NM_001608.4(ACADL):c.910G>C (p.Glu304Gln)	ACADL (E304Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223242	NM_001608.4(ACADL):c.871G>A (p.Glu291Lys)	ACADL (E291K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2630863	NM_001608.4(ACADL):c.871-2A>G	ACADL	Single nucleotide variant (splice acceptor variant)	ACADL-related disorder	GUncertain significance
Select item 3040544	NM_001608.4(ACADL):c.870+10G>A	ACADL	Single nucleotide variant (intron variant)	ACADL-related disorder	GLikely benign
Select item 3356762	NM_001608.4(ACADL):c.845A>G (p.Tyr282Cys)	ACADL (Y282C)	Single nucleotide variant (missense variant)	ACADL-related disorder	GUncertain significance
Select item 3134809	NM_001608.4(ACADL):c.808G>T (p.Ala270Ser)	ACADL (A270S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 973447	NM_001608.4(ACADL):c.799C>T (p.Arg267Trp)	ACADL (R267W)	Single nucleotide variant (missense variant)	Long chain acyl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 593544	NM_001608.4(ACADL):c.722G>C (p.Gly241Ala)	ACADL (G241A)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3463998	NM_001608.4(ACADL):c.716T>C (p.Met239Thr)	ACADL (M239T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2634626	NM_001608.4(ACADL):c.683A>G (p.His228Arg)	ACADL (H228R)	Single nucleotide variant (missense variant)	ACADL-related disorder	GUncertain significance
Select item 2593088	NM_001608.4(ACADL):c.659A>G (p.Asn220Ser)	ACADL (N220S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 333993	NM_001608.4(ACADL):c.654C>T (p.Val218=)	ACADL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2571115	NM_001608.4(ACADL):c.651G>A (p.Ala217=)	ACADL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 420351	NM_001608.4(ACADL):c.626del (p.Ser208_Leu209insTer)	ACADL	Deletion (nonsense)	not provided	GUncertain significance
Select item 3042365	NM_001608.4(ACADL):c.621G>T (p.Gly207=)	ACADL	Single nucleotide variant (synonymous variant)	ACADL-related disorder	GBenign
Select item 2488819	NM_001608.4(ACADL):c.545A>C (p.Gln182Pro)	ACADL (Q182P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3464086	NM_001608.4(ACADL):c.524C>T (p.Pro175Leu)	ACADL (P175L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3463813	NM_001608.4(ACADL):c.522G>T (p.Glu174Asp)	ACADL (E174D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557629	NM_001608.4(ACADL):c.508A>G (p.Ile170Val)	ACADL (I170V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2634923	NM_001608.4(ACADL):c.497G>A (p.Cys166Tyr)	ACADL (C166Y)	Single nucleotide variant (missense variant)	ACADL-related disorder	GUncertain significance
Select item 3260777	NM_001608.4(ACADL):c.481A>G (p.Met161Val)	ACADL (M161V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518956	NM_001608.4(ACADL):c.463A>G (p.Lys155Glu)	ACADL (K155E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134796	NM_001608.4(ACADL):c.374C>T (p.Ala125Val)	ACADL (A125V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043018	NM_001608.4(ACADL):c.372-8dup	ACADL	Duplication (intron variant)	ACADL-related disorder	GBenign
Select item 2622230	NM_001608.4(ACADL):c.355A>T (p.Ile119Phe)	ACADL (I119F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260786	NM_001608.4(ACADL):c.310G>A (p.Ala104Thr)	ACADL (A104T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3463897	NM_001608.4(ACADL):c.277G>T (p.Ala93Ser)	ACADL (A93S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231861	NM_001608.4(ACADL):c.257G>A (p.Ser86Asn)	ACADL (S86N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3030800	NM_001608.4(ACADL):c.234-4G>A	ACADL	Single nucleotide variant (intron variant)	ACADL-related disorder	GLikely benign
Select item 3134788	NM_001608.4(ACADL):c.187A>G (p.Ser63Gly)	ACADL (S63G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526506	NM_001608.4(ACADL):c.181C>T (p.Arg61Trp)	ACADL (R61W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370138	NM_001608.4(ACADL):c.180C>G (p.Phe60Leu)	ACADL (F60L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315214	NM_001608.4(ACADL):c.140T>C (p.Ile47Thr)	ACADL (I47T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651860	NM_001608.4(ACADL):c.138T>C (p.Asp46=)	ACADL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2356127	NM_001608.4(ACADL):c.129A>T (p.Lys43Asn)	ACADL (K43N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2456322	NM_001608.4(ACADL):c.94G>A (p.Gly32Arg)	ACADL (G32R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3029948	NM_001608.4(ACADL):c.90C>T (p.Ser30=)	ACADL	Single nucleotide variant (synonymous variant)	ACADL-related disorder	GLikely benign
Select item 3035587	NM_001608.4(ACADL):c.37C>T (p.Leu13=)	ACADL	Single nucleotide variant (synonymous variant)	ACADL-related disorder	GLikely benign
Select item 632340	NM_001608.4(ACADL):c.24dup (p.Ser9fs)	ACADL (S9fs)	Duplication (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 3464177	NM_001608.4(ACADL):c.23G>T (p.Gly8Val)	ACADL (G8V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260808	NM_001608.4(ACADL):c.20G>T (p.Arg7Leu)	ACADL (R7L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3032185	NM_001608.4(ACADL):c.7G>T (p.Ala3Ser)	ACADL (A3S)	Single nucleotide variant (missense variant)	ACADL-related disorder	GLikely benign
Select item 3247574	NC_000002.11:g.(?_210636797)_(211542709_?)dup	ACADL, CPS1 +5 more	Duplication	not provided	GUncertain significance
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 3062481	GRCh37/hg19 2q33.2-34(chr2:204110688-211638554)x1	ABI2, ACADL +38 more	Copy number loss	not specified	GPathogenic
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2427041	NC_000002.11:g.(?_210636797)_(213403254_?)del	MYL1, RPE +6 more	Deletion	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1511552	NC_000002.11:g.(?_203420070)_(211811277_?)del	ABI2, ACADL +44 more	Deletion	Primary pulmonary hypertension	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 979400	GRCh37/hg19 2q33.2-34(chr2:204445619-212580788)x1	ACADL, ADAM23 +36 more	Copy number loss	not provided	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 688684	GRCh37/hg19 2q34(chr2:210938610-211132415)x3	ACADL, KANSL1L	Copy number gain	not provided	GUncertain significance
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 599304	Single allele	ACADL, CPS1 +6 more	Deletion	Trichorhinophalangeal dysplasia type I	GUncertain significance
Select item 562677	GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3	AAMP, ABCA12 +60 more	Copy number gain	not provided	GPathogenic
Select item 443584	GRCh37/hg19 2q34(chr2:210983281-211744945)x3	ACADL, CPS1 +3 more	Copy number gain	See cases	GLikely benign
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic

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Items: 87