ClinVar for Gene (Select 350383) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3282220	NM_001331076.1(GPR142):c.829C>G (p.Leu277Val)	GPR142 (L365V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282219	NM_001331076.1(GPR142):c.-157G>A	GPR142 (R69Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3282218	NM_001331076.1(GPR142):c.1121T>C (p.Val374Ala)	GPR142 (V462A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282217	NM_001331076.1(GPR142):c.1121T>G (p.Val374Gly)	GPR142 (V462G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282216	NM_001331076.1(GPR142):c.959C>T (p.Ala320Val)	GPR142 (A408V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282215	NM_001331076.1(GPR142):c.-124G>A	GPR142 (R80H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3282214	NM_001331076.1(GPR142):c.848C>T (p.Ala283Val)	GPR142 (A371V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282213	NM_001331076.1(GPR142):c.1027G>A (p.Asp343Asn)	GPR142 (D343N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282212	NM_001331076.1(GPR142):c.-58A>G	GPR142 (K87E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3282211	NM_001331076.1(GPR142):c.787C>T (p.Arg263Trp)	GPR142 (R263W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101446	NM_001331076.1(GPR142):c.721T>C (p.Phe241Leu)	GPR142 (F241L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101445	NM_001331076.1(GPR142):c.644C>G (p.Thr215Ser)	GPR142 (T303S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101444	NM_001331076.1(GPR142):c.551C>G (p.Pro184Arg)	GPR142 (P184R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101442	NM_001331076.1(GPR142):c.-333A>C	GPR142 (Q10H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3101441	NM_001331076.1(GPR142):c.-178C>G	GPR142 (T62R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3101440	NM_001331076.1(GPR142):c.914A>G (p.His305Arg)	GPR142 (H393R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101439	NM_001331076.1(GPR142):c.909G>T (p.Arg303Ser)	GPR142 (R391S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101438	NM_001331076.1(GPR142):c.-259A>G	GPR142 (D35G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3101437	NM_001331076.1(GPR142):c.769C>T (p.Arg257Trp)	GPR142 (R257W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648221	NM_001331076.1(GPR142):c.1097C>T (p.Pro366Leu)	GPR142 (P366L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2648220	NM_001331076.1(GPR142):c.588T>C (p.Ser196=)	GPR142	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648219	NM_001331076.1(GPR142):c.359T>C (p.Val120Ala)	GPR142 (V120A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2604663	NM_001331076.1(GPR142):c.-4G>A	GPR142 (G105S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2589002	NM_001331076.1(GPR142):c.439A>G (p.Asn147Asp)	GPR142 (N235D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556365	NM_001331076.1(GPR142):c.536G>A (p.Arg179Gln)	GPR142 (R267Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553327	NM_001331076.1(GPR142):c.245G>A (p.Gly82Glu)	GPR142 (G82E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483922	NM_001331076.1(GPR142):c.-263G>A	GPR142 (E34K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2460604	NM_001331076.1(GPR142):c.1013G>A (p.Arg338Gln)	GPR142 (R338Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455130	NM_001331076.1(GPR142):c.788G>A (p.Arg263Gln)	GPR142 (R351Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454373	NM_001331076.1(GPR142):c.646G>A (p.Asp216Asn)	GPR142 (D304N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411982	NM_001331076.1(GPR142):c.541G>A (p.Ala181Thr)	GPR142 (A269T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2400411	NM_001331076.1(GPR142):c.956C>T (p.Thr319Met)	GPR142 (T319M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393735	NM_001331076.1(GPR142):c.308C>T (p.Pro103Leu)	GPR142 (P191L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392373	NM_001331076.1(GPR142):c.433A>G (p.Thr145Ala)	GPR142 (T145A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389725	NM_001331076.1(GPR142):c.431G>A (p.Arg144His)	GPR142 (R144H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376199	NM_001331076.1(GPR142):c.752G>A (p.Arg251Gln)	GPR142 (R251Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374578	NM_001331076.1(GPR142):c.140G>A (p.Gly47Glu)	GPR142 (G47E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372774	NM_001331076.1(GPR142):c.481G>A (p.Ala161Thr)	GPR142 (A161T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371689	NM_001331076.1(GPR142):c.268G>A (p.Ala90Thr)	GPR142 (A90T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2367862	NM_001331076.1(GPR142):c.178G>A (p.Ala60Thr)	GPR142 (A148T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358064	NM_001331076.1(GPR142):c.21G>A (p.Gly7=)	GPR142 (G113R)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2350607	NM_001331076.1(GPR142):c.466G>A (p.Ala156Thr)	GPR142 (A156T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338591	NM_001331076.1(GPR142):c.-162C>A	GPR142 (D67E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2322698	NM_001331076.1(GPR142):c.965A>G (p.Asn322Ser)	GPR142 (N322S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315262	NM_001331076.1(GPR142):c.354C>G (p.Ile118Met)	GPR142 (I206M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276605	NM_001331076.1(GPR142):c.970G>T (p.Gly324Cys)	GPR142 (G412C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272964	NM_001331076.1(GPR142):c.367G>A (p.Val123Met)	GPR142 (V123M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259892	NM_001331076.1(GPR142):c.563G>A (p.Arg188His)	GPR142 (R188H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1340830	GRCh37/hg19 17q25.1(chr17:71813960-72707349)x3	BTBD17, CD300A +13 more	Copy number gain	not provided	GLikely benign
Select item 815950	GRCh37/hg19 17q25.1(chr17:71811005-72681118)x3	BTBD17, CD300A +12 more	Copy number gain	not provided	GLikely benign
Select item 778532	NM_001331076.1(GPR142):c.807C>A (p.Ala269=)	GPR142	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 777216	NM_001331076.1(GPR142):c.107G>A (p.Arg36Gln)	GPR142 (R124Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 774932	NM_001331076.1(GPR142):c.769C>A (p.Arg257=)	GPR142	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 770799	NM_001331076.1(GPR142):c.100del (p.Gln34fs)	GPR142 (Q122fs +1 more)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 716465	NM_001331076.1(GPR142):c.853C>T (p.Arg285Trp)	GPR142 (R373W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 716231	NM_001331076.1(GPR142):c.384C>T (p.Leu128=)	GPR142	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 625759	GRCh37/hg19 17q24.3-25.1(chr17:70720436-73175266)	BTBD17, ARMC7 +40 more	Copy number gain	not provided	GPathogenic
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564470	GRCh37/hg19 17q25.1(chr17:71810700-72702515)x3	BTBD17, CD300A +13 more	Copy number gain	not provided	GLikely benign
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 393984	GRCh37/hg19 17q25.1(chr17:71940807-72667784)x3	BTBD17, CD300A +12 more	Copy number gain	See cases	GLikely benign
Select item 160836	GRCh38/hg38 17q25.1(chr17:73851698-74610813)x3	BTBD17, CD300A +41 more	Copy number gain	See cases	GBenign
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 152569	GRCh38/hg38 17q25.1(chr17:73851698-74651858)x3	BTBD17, CD300A +42 more	Copy number gain	See cases	GBenign/Likely benign
Select item 150454	GRCh38/hg38 17q25.1(chr17:73967269-74610906)x3	BTBD17, CD300A +39 more	Copy number gain	See cases	GLikely benign
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 145427	GRCh38/hg38 17q25.1(chr17:73851718-74610906)x3	BTBD17, CD300A +41 more	Copy number gain	See cases	GBenign
Select item 59733	GRCh38/hg38 17q25.1(chr17:73851698-74732123)x3	BTBD17, CD300A +44 more	Copy number gain	See cases	GBenign
Select item 59732	GRCh38/hg38 17q25.1(chr17:73843095-74670538)x3	BTBD17, CD300A +42 more	Copy number gain	See cases	GBenign
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 32717	GRCh38/hg38 17q25.1(chr17:73851698-74610813)x3	BTBD17, CD300A +41 more	Copy number gain	See cases	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 76