ClinVar for Gene (Select 9317) - ClinVar

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Links from Gene

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3311270	NM_001261836.2(PTER):c.389A>T (p.Asp130Val)	PTER (D130V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262382	NM_001010908.2(C1QL3):c.683A>G (p.Tyr228Cys)	C1QL3, PTER (Y228C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220677	NM_001261836.2(PTER):c.84C>A (p.His28Gln)	PTER (H28Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220676	NM_001261836.2(PTER):c.740T>C (p.Leu247Pro)	PTER (L247P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220675	NM_001261836.2(PTER):c.712A>G (p.Lys238Glu)	PTER (K238E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220674	NM_001261836.2(PTER):c.688C>T (p.His230Tyr)	PTER (H230Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220673	NM_001261836.2(PTER):c.65G>A (p.Arg22His)	PTER (R22H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220672	NM_001261836.2(PTER):c.646T>A (p.Leu216Met)	PTER (L67M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220671	NM_001261836.2(PTER):c.14G>C (p.Ser5Thr)	PTER (S5T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063176	GRCh37/hg19 10p13(chr10:15634150-16873686)x3	C1QL3, CUBN +4 more	Copy number gain	not specified	GUncertain significance
Select item 3063173	GRCh37/hg19 10p13(chr10:15595630-16873686)x3	C1QL3, CUBN +4 more	Copy number gain	not specified	GUncertain significance
Select item 2610020	NM_001261836.2(PTER):c.596T>C (p.Ile199Thr)	PTER (I50T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608966	NM_001261836.2(PTER):c.116C>T (p.Pro39Leu)	PTER (P39L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600175	NM_001261836.2(PTER):c.377G>T (p.Gly126Val)	PTER (G126V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2548424	NM_001261836.2(PTER):c.102C>A (p.Asp34Glu)	PTER (D34E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545101	NM_001261836.2(PTER):c.602A>T (p.His201Leu)	PTER (H201L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539279	NM_001261836.2(PTER):c.704T>C (p.Ile235Thr)	PTER (I235T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516819	NM_001261836.2(PTER):c.442G>T (p.Val148Phe)	PTER (V148F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513577	NM_001261836.2(PTER):c.836G>T (p.Arg279Ile)	PTER (R130I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493637	NM_001261836.2(PTER):c.892G>A (p.Asp298Asn)	PTER (D149N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492816	NM_001261836.2(PTER):c.234A>T (p.Glu78Asp)	PTER (E78D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401493	NM_001261836.2(PTER):c.796G>A (p.Gly266Ser)	PTER (G117S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388417	NM_001261836.2(PTER):c.559A>G (p.Thr187Ala)	PTER (T38A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368196	NM_001261836.2(PTER):c.910C>T (p.Arg304Trp)	PTER (R304W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364630	NM_001261836.2(PTER):c.364A>G (p.Ile122Val)	PTER (I122V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349372	NM_001261836.2(PTER):c.376G>A (p.Gly126Arg)	PTER (G126R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320404	NM_001261836.2(PTER):c.892G>C (p.Asp298His)	PTER (D298H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272021	NM_001261836.2(PTER):c.971T>C (p.Met324Thr)	PTER (M175T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250474	NM_001261836.2(PTER):c.446T>C (p.Leu149Pro)	PTER (L149P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217309	NM_001261836.2(PTER):c.757T>C (p.Tyr253His)	PTER (Y104H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209252	NM_001261836.2(PTER):c.412A>T (p.Arg138Trp)	PTER (R138W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1527580	GRCh37/hg19 10p13(chr10:15631365-16749903)	C1QL3, ITGA8 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 1047870	GRCh37/hg19 10p14-13(chr10:9137489-17227168)	ACBD7, BEND7 +36 more	Copy number loss	Neurodevelopmental delay	GPathogenic
Select item 815320	GRCh37/hg19 10p13(chr10:16402241-17145665)x3	CUBN, C1QL3 +2 more	Copy number gain	not provided	GLikely benign
Select item 785308	NM_001261836.2(PTER):c.171A>G (p.Leu57=)	PTER	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 774556	NM_001261836.2(PTER):c.660C>T (p.Gly220=)	PTER	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773231	NM_001261836.2(PTER):c.610C>T (p.Arg204Trp)	PTER (R204W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 711060	NM_001261836.2(PTER):c.436A>G (p.Thr146Ala)	PTER (T146A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 599307	Single allele	ITIH2, ITIH5 +72 more	Deletion	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 563761	GRCh37/hg19 10p13(chr10:15719906-16686551)x1	ITGA8, PTER +3 more	Copy number loss	not provided	GUncertain significance
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 442109	GRCh37/hg19 10p13-12.31(chr10:15966534-19063585)x1	ARL5B, C1QL3 +11 more	Copy number loss	See cases	GUncertain significance
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 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 155413	GRCh38/hg38 10p13(chr10:16223358-16465453)x1	LINC02654, LOC130003436 +3 more	Copy number loss	See cases	GUncertain significance
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 148232	GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1	ACBD7, ACBD7-DCLRE1CP1 +388 more	Copy number loss	See cases	GPathogenic
Select item 146160	GRCh38/hg38 10p13(chr10:15569469-16776796)x3	C1QL3, ITGA8 +22 more	Copy number gain	See cases	GBenign
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 58717	GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1	LOC130003217, LOC130003218 +482 more	Copy number loss	See cases	GPathogenic
Select item 57883	GRCh38/hg38 10p13(chr10:15680938-16480748)x3	ITGA8, LINC02654 +11 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

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Links from Gene

Items: 58