ClinVar for Gene (Select 84457) - ClinVar

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Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3306335	NM_032439.4(PHYHIPL):c.181A>G (p.Ile61Val)	PHYHIPL (I61V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306334	NM_032439.4(PHYHIPL):c.788A>C (p.Asn263Thr)	PHYHIPL (N263T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212493	NM_032439.4(PHYHIPL):c.748T>C (p.Tyr250His)	PHYHIPL (Y224H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091865	NM_198215.4(FAM13C):c.1671T>G (p.Asp557Glu)	FAM13C, PHYHIPL (D473E +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063161	GRCh37/hg19 10q21.1-21.2(chr10:59447320-64201694)x1	ANK3, ARID5B +15 more	Copy number loss	not specified	GUncertain significance
Select item 2685375	GRCh37/hg19 10q11.23-22.1(chr10:51735638-70791246)x1	A1CF, ADO +51 more	Copy number loss	not provided	GPathogenic
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2640482	NM_032439.4(PHYHIPL):c.984C>T (p.Val328=)	PHYHIPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2551800	NM_032439.4(PHYHIPL):c.1114A>G (p.Ile372Val)	PHYHIPL (I346V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545144	NM_032439.4(PHYHIPL):c.1124G>A (p.Gly375Glu)	PHYHIPL (G349E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513366	NM_032439.4(PHYHIPL):c.882A>C (p.Glu294Asp)	PHYHIPL (E294D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495670	NM_032439.4(PHYHIPL):c.1126C>T (p.Arg376Cys)	PHYHIPL (R350C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455356	NM_032439.4(PHYHIPL):c.19G>A (p.Asp7Asn)	PHYHIPL (D7N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406788	NM_032439.4(PHYHIPL):c.56A>C (p.Glu19Ala)	PHYHIPL (E19A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397450	NM_032439.4(PHYHIPL):c.52G>A (p.Glu18Lys)	PHYHIPL (E18K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363437	NM_032439.4(PHYHIPL):c.784C>T (p.Pro262Ser)	PHYHIPL (P236S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330058	NM_032439.4(PHYHIPL):c.800A>T (p.Tyr267Phe)	PHYHIPL (Y241F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300596	NM_032439.4(PHYHIPL):c.293T>G (p.Phe98Cys)	PHYHIPL (F72C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226801	NM_032439.4(PHYHIPL):c.895C>T (p.Arg299Cys)	PHYHIPL (R273C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217312	NM_032439.4(PHYHIPL):c.98A>T (p.Asp33Val)	PHYHIPL (D33V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808430	GRCh37/hg19 10q21.1-21.2(chr10:60870153-63790451)x1	ANK3, ARID5B +8 more	Copy number loss	not provided	GUncertain significance
Select item 1808195	GRCh37/hg19 10q21.1-21.3(chr10:57941252-64846332)x1	ADO, ANK3 +18 more	Copy number loss	not provided	GUncertain significance
Select item 1527587	GRCh37/hg19 10q21.1(chr10:60251706-61029303)	BICC1, FAM13C +1 more	Copy number gain	not specified	GUncertain significance
Select item 815349	GRCh37/hg19 10q21.1-21.3(chr10:56031210-65660398)x1	MTRNR2L5, TMEM26 +23 more	Copy number loss	not provided	GPathogenic
Select item 815348	GRCh37/hg19 10q21.1-21.2(chr10:55589950-63990649)x1	ANK3, PCDH15 +17 more	Copy number loss	not provided	GPathogenic
Select item 815342	GRCh37/hg19 10q11.23-21.3(chr10:50250603-69256083)x1	TIMM23, C10orf71 +50 more	Copy number loss	not provided	GPathogenic
Select item 688024	GRCh37/hg19 10q21.1-21.2(chr10:59199424-62981900)x3	ANK3, BICC1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 495230	NC_000010.10:g.43611191_61663279inv	CCDC6, ZNF32 +75 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 442208	GRCh37/hg19 10q21.1-21.2(chr10:57587928-64212007)x1	ANK3, ARID5B +16 more	Copy number loss	See cases	GLikely pathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 152646	GRCh38/hg38 10q21.1-21.3(chr10:55287177-67558442)x3	ADO, ANK3 +227 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 40