25365[HGNC] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ENC1, ERAP1 +690 more	Copy number gain	See cases	GPathogenic
Select item 150860	GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1	ADGRV1, ARB2A +435 more	Copy number loss	See cases	GPathogenic
Select item 57272	GRCh38/hg38 5q14.3-21.1(chr5:87376883-101524443)x1	ADGRV1, ARB2A +276 more	Copy number loss	See cases	GPathogenic
Select item 2579178	GRCh38/hg38 5q14.3-15(chr5:88189536-93784597)x1	ADGRV1, ARB2A +116 more	Copy number loss	Intellectual disability, autosomal dominant 20	GPathogenic
Select item 59633	GRCh38/hg38 5q14.3-15(chr5:88936770-94102018)x1	ADGRV1, ARB2A +96 more	Copy number loss	See cases	GPathogenic
Select item 59664	GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1	ADGRV1, ARB2A +274 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	ADGRV1, ALDH7A1 +682 more	Copy number loss	See cases	GPathogenic
Select item 59667	GRCh38/hg38 5q14.3-15(chr5:91386552-98365880)x1	ARB2A, ARRDC3-AS1 +146 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC129994229, LOC129994230 +688 more	Copy number loss	See cases	GPathogenic
Select item 152045	GRCh38/hg38 5q14.3-15(chr5:92031269-93947338)x1	ARB2A, LOC105379082 +28 more	Copy number loss	See cases	GLikely pathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	LOC129994369, LOC129994370 +495 more	Copy number loss	See cases	GPathogenic
Select item 155182	GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1	LOC129994289, LOC129994290 +342 more	Copy number loss	See cases	GPathogenic
Select item 59443	GRCh38/hg38 5q15(chr5:93405010-97716265)x3	ARB2A, ARSK +119 more	Copy number gain	See cases	GUncertain significance
Select item 59670	GRCh38/hg38 5q15(chr5:93598243-94237822)x1	ARB2A, KIAA0825 +7 more	Copy number loss	See cases	GPathogenic
Select item 3235543	NM_032042.6(ARB2A):c.1159A>C (p.Lys387Gln)	ARB2A (K277Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 153638	GRCh38/hg38 5q15(chr5:93719352-93931571)x1	ARB2A, LOC110120641 +1 more	Copy number loss	See cases	GUncertain significance
Select item 2380891	NM_153216.2(POU5F2):c.959C>T (p.Ala320Val)	ARB2A, POU5F2 (A320V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512811	NM_153216.2(POU5F2):c.908C>G (p.Pro303Arg)	ARB2A, POU5F2 (P303R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309054	NM_153216.2(POU5F2):c.854G>T (p.Cys285Phe)	ARB2A, POU5F2 (C285F)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3216975	NM_153216.2(POU5F2):c.659G>A (p.Arg220Gln)	ARB2A, POU5F2 (R220Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541551	NM_153216.2(POU5F2):c.659G>C (p.Arg220Pro)	ARB2A, POU5F2 (R220P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216974	NM_153216.2(POU5F2):c.656G>A (p.Arg219Gln)	ARB2A, POU5F2 (R219Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216973	NM_153216.2(POU5F2):c.578C>T (p.Ala193Val)	ARB2A, POU5F2 (A193V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309053	NM_153216.2(POU5F2):c.538C>G (p.Leu180Val)	ARB2A, POU5F2 (L180V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309055	NM_153216.2(POU5F2):c.478A>C (p.Ser160Arg)	ARB2A, POU5F2 (S160R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310353	NM_153216.2(POU5F2):c.457G>A (p.Ala153Thr)	ARB2A, POU5F2 (A153T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296725	NM_153216.2(POU5F2):c.425A>G (p.Tyr142Cys)	ARB2A, POU5F2 (Y142C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216971	NM_153216.2(POU5F2):c.323G>C (p.Arg108Pro)	ARB2A, POU5F2 (R108P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352632	NM_153216.2(POU5F2):c.295G>T (p.Ala99Ser)	ARB2A, POU5F2 (A99S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258854	NM_153216.2(POU5F2):c.280C>T (p.Arg94Cys)	ARB2A, POU5F2 (R94C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216972	NM_153216.2(POU5F2):c.34C>A (p.Pro12Thr)	ARB2A, POU5F2 (P12T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235555	NM_032042.6(ARB2A):c.917G>A (p.Arg306Gln)	ARB2A (R196Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 152919	GRCh38/hg38 5q15(chr5:93812177-94727962)x1	ARB2A, KIAA0825 +9 more	Copy number loss	See cases	GUncertain significance
Select item 2320131	NM_032042.6(ARB2A):c.868G>A (p.Val290Ile)	ARB2A (V244I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468413	NM_032042.6(ARB2A):c.848C>T (p.Ala283Val)	ARB2A (A283V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214866	NM_032042.6(ARB2A):c.835A>G (p.Ile279Val)	ARB2A (I233V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528685	NM_032042.6(ARB2A):c.774A>C (p.Gln258His)	ARB2A (Q212H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309819	NM_032042.6(ARB2A):c.719G>A (p.Arg240Gln)	ARB2A (R130Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527838	NM_032042.6(ARB2A):c.684A>C (p.Glu228Asp)	ARB2A (E182D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540806	NM_032042.6(ARB2A):c.679C>G (p.Arg227Gly)	ARB2A (R117G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235552	NM_032042.6(ARB2A):c.676A>G (p.Lys226Glu)	ARB2A (K116E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235551	NM_032042.6(ARB2A):c.626C>T (p.Pro209Leu)	ARB2A (P163L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309829	NM_032042.6(ARB2A):c.599A>G (p.Asn200Ser)	ARB2A (N90S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235550	NM_032042.6(ARB2A):c.585A>G (p.Ile195Met)	ARB2A (I149M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309809	NM_032042.6(ARB2A):c.436A>G (p.Asn146Asp)	ARB2A (N146D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329381	NM_032042.6(ARB2A):c.411C>G (p.Ile137Met)	ARB2A (I137M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235549	NM_032042.6(ARB2A):c.404G>A (p.Ser135Asn)	ARB2A (S135N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235546	NM_032042.6(ARB2A):c.341A>G (p.Glu114Gly)	ARB2A (E114G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309801	NM_032042.6(ARB2A):c.326T>C (p.Val109Ala)	ARB2A (V109A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235545	NM_032042.6(ARB2A):c.314T>C (p.Ile105Thr)	ARB2A (I105T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289057	NM_032042.6(ARB2A):c.295G>A (p.Glu99Lys)	ARB2A (E99K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235544	NM_032042.6(ARB2A):c.166T>A (p.Phe56Ile)	ARB2A (F10I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235553	NM_032042.6(ARB2A):c.78T>A (p.Asp26Glu)	ARB2A (D26E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3235547	NM_032042.6(ARB2A):c.37A>G (p.Ile13Val)	ARB2A (I13V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 146405	GRCh38/hg38 5q15(chr5:94080406-94252804)x1	ARB2A, KIAA0825	Copy number loss	See cases	GUncertain significance
Select item 3148929	GRCh37/hg19 5q14.3-21.2(chr5:89923199-104256041)x3	ADGRV1, ARB2A +34 more	Copy number gain	See cases	GUncertain significance
Select item 3062838	GRCh37/hg19 5q14.3-15(chr5:91884840-93976422)x1	ARB2A, KIAA0825 +3 more	Copy number loss	not specified	GPathogenic
Select item 3062820	GRCh37/hg19 5q15(chr5:92845157-93475376)x1	ARB2A, NR2F1 +1 more	Copy number loss	not specified	GLikely pathogenic
Select item 1340586	GRCh37/hg19 5q15(chr5:92986133-93167165)x1	FAM172A, POU5F2	Copy number loss	not provided	GUncertain significance
Select item 980164	GRCh37/hg19 5q15(chr5:93065634-93132679)x1	POU5F2, FAM172A	Copy number loss	not provided	GUncertain significance
Select item 816490	GRCh37/hg19 5q14.3-21.3(chr5:87792844-109221844)x3	CAST, CETN3 +45 more	Copy number gain	See cases	GLikely pathogenic
Select item 814711	GRCh37/hg19 5q15(chr5:92618672-93196696)x1	NR2F1, FAM172A +1 more	Copy number loss	not provided	GPathogenic
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 688598	GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	ADAMTS19, ADGRV1 +104 more	Copy number gain	not provided	GPathogenic
Select item 687172	GRCh37/hg19 5q15(chr5:93394328-93949193)x1	FAM172A, KIAA0825	Copy number loss	not provided	GUncertain significance
Select item 686679	GRCh37/hg19 5q15(chr5:92386982-94865113)x1	FAM172A, FAM81B +6 more	Copy number loss	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563091	GRCh37/hg19 5q14.3-21.3(chr5:91504101-104858348)x1	ARB2A, ARSK +31 more	Copy number loss	not provided	GPathogenic
Select item 563090	GRCh37/hg19 5q14.3-15(chr5:90664386-93537229)x3	POU5F2, ARRDC3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ANKHD1-EIF4EBP3, CHSY3 +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 218937	Single allele	POU5F2, FAM172A +2 more	Deletion	Bosch-Boonstra-Schaaf optic atrophy syndrome	GLikely pathogenic
Select item 218936	Single allele	KIAA0825, FAM172A +2 more	Deletion	Bosch-Boonstra-Schaaf optic atrophy syndrome	GLikely pathogenic

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Items: 75