20088[HGNC] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
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 59732	GRCh38/hg38 17q25.1(chr17:73843095-74670538)x3	BTBD17, CD300A +42 more	Copy number gain	See cases	GBenign
Select item 160836	GRCh38/hg38 17q25.1(chr17:73851698-74610813)x3	BTBD17, CD300A +41 more	Copy number gain	See cases	GBenign
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 59733	GRCh38/hg38 17q25.1(chr17:73851698-74732123)x3	BTBD17, CD300A +44 more	Copy number gain	See cases	GBenign
Select item 32717	GRCh38/hg38 17q25.1(chr17:73851698-74610813)x3	BTBD17, CD300A +41 more	Copy number gain	See cases	GConflicting classifications of pathogenicity
Select item 145427	GRCh38/hg38 17q25.1(chr17:73851718-74610906)x3	BTBD17, CD300A +41 more	Copy number gain	See cases	GBenign
Select item 150454	GRCh38/hg38 17q25.1(chr17:73967269-74610906)x3	BTBD17, CD300A +39 more	Copy number gain	See cases	GLikely benign
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 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 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 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 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 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 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 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 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 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 770799	NM_001331076.1(GPR142):c.100del (p.Gln34fs)	GPR142 (Q122fs +1 more)	Deletion (frameshift variant)	not provided	GLikely 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 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 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 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 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 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 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 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 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 716231	NM_001331076.1(GPR142):c.384C>T (p.Leu128=)	GPR142	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 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 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 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 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 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 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 2648220	NM_001331076.1(GPR142):c.588T>C (p.Ser196=)	GPR142	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 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 774932	NM_001331076.1(GPR142):c.769C>A (p.Arg257=)	GPR142	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 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 778532	NM_001331076.1(GPR142):c.807C>A (p.Ala269=)	GPR142	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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

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Items: 76