ClinVar for Gene (Select 134187) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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	AFF4, C5orf46 +385 more	Deletion	Familial adenomatous polyposis 1 +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
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 155182	GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1	APC, ARB2A +343 more	Copy number loss	See cases	GPathogenic
Select item 153638	GRCh38/hg38 5q15(chr5:93719352-93931571)x1	ARB2A, LOC110120641 +1 more	Copy number loss	See cases	GUncertain significance
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	DMXL1, DMXL1-DT +496 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 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 150860	GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1	ADGRV1, ARB2A +436 more	Copy number loss	See cases	GPathogenic
Select item 59670	GRCh38/hg38 5q15(chr5:93598243-94237822)x1	ARB2A, KIAA0825 +7 more	Copy number loss	See cases	GPathogenic
Select item 59667	GRCh38/hg38 5q14.3-15(chr5:91386552-98365880)x1	ARB2A, ARRDC3-AS1 +147 more	Copy number loss	See cases	GPathogenic
Select item 59664	GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1	ADGRV1, ARB2A +275 more	Copy number loss	See cases	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 59443	GRCh38/hg38 5q15(chr5:93405010-97716265)x3	ARB2A, ARSK +120 more	Copy number gain	See cases	GUncertain significance
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 57272	GRCh38/hg38 5q14.3-21.1(chr5:87376883-101524443)x1	LOC110120974, LOC110120977 +277 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 49