ClinVar for Gene (Select 287015) - ClinVar

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Links from Gene

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 2671581	Single allele	TFDP2, TRIM42 +26 more	Deletion	not provided	GPathogenic
Select item 2654197	NM_152616.5(TRIM42):c.1914T>C (p.Tyr638=)	TRIM42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654196	NM_152616.5(TRIM42):c.738C>T (p.Ile246=)	TRIM42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2604345	NM_152616.5(TRIM42):c.679T>G (p.Trp227Gly)	TRIM42 (W227G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596248	NM_152616.5(TRIM42):c.695C>T (p.Ser232Phe)	TRIM42 (S232F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570247	NM_152616.5(TRIM42):c.859G>A (p.Glu287Lys)	TRIM42 (E287K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569827	NM_152616.5(TRIM42):c.955A>C (p.Asn319His)	TRIM42 (N319H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2564606	NM_152616.5(TRIM42):c.1561A>T (p.Thr521Ser)	TRIM42 (T521S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544808	NM_152616.5(TRIM42):c.739G>A (p.Ala247Thr)	TRIM42 (A247T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542329	NM_152616.5(TRIM42):c.605A>C (p.Lys202Thr)	TRIM42 (K202T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529216	NM_152616.5(TRIM42):c.1531C>A (p.His511Asn)	TRIM42 (H511N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517643	NM_152616.5(TRIM42):c.1949T>A (p.Met650Lys)	TRIM42 (M650K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511422	NM_152616.5(TRIM42):c.160C>T (p.His54Tyr)	TRIM42 (H54Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478105	NM_152616.5(TRIM42):c.2020G>A (p.Glu674Lys)	TRIM42 (E674K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472984	NM_152616.5(TRIM42):c.863A>G (p.Lys288Arg)	TRIM42 (K288R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461519	NM_152616.5(TRIM42):c.2048A>G (p.Asn683Ser)	TRIM42 (N683S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456921	NM_152616.5(TRIM42):c.290G>A (p.Arg97His)	TRIM42 (R97H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394666	NM_152616.5(TRIM42):c.650G>A (p.Arg217His)	TRIM42 (R217H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389231	NM_152616.5(TRIM42):c.379C>G (p.Gln127Glu)	TRIM42 (Q127E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384813	NM_152616.5(TRIM42):c.532G>A (p.Glu178Lys)	TRIM42 (E178K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363705	NM_152616.5(TRIM42):c.2026G>A (p.Val676Met)	TRIM42 (V676M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360413	NM_152616.5(TRIM42):c.1942G>A (p.Val648Ile)	TRIM42 (V648I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355810	NM_152616.5(TRIM42):c.1118G>A (p.Arg373Gln)	TRIM42 (R373Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354728	NM_152616.5(TRIM42):c.1528G>A (p.Val510Met)	TRIM42 (V510M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2350778	NM_152616.5(TRIM42):c.150C>G (p.Cys50Trp)	TRIM42 (C50W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347221	NM_152616.5(TRIM42):c.338C>A (p.Thr113Asn)	TRIM42 (T113N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346785	NM_152616.5(TRIM42):c.204C>G (p.Cys68Trp)	TRIM42 (C68W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296444	NM_152616.5(TRIM42):c.772C>G (p.Leu258Val)	TRIM42 (L258V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288095	NM_152616.5(TRIM42):c.2117G>A (p.Arg706Gln)	TRIM42 (R706Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280832	NM_152616.5(TRIM42):c.1492C>T (p.Arg498Cys)	TRIM42 (R498C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2276920	NM_152616.5(TRIM42):c.1048G>C (p.Glu350Gln)	TRIM42 (E350Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272449	NM_152616.5(TRIM42):c.1784C>T (p.Ser595Leu)	TRIM42 (S595L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258099	NM_152616.5(TRIM42):c.1610C>T (p.Ser537Phe)	TRIM42 (S537F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243688	NM_152616.5(TRIM42):c.2148G>C (p.Gln716His)	TRIM42 (Q716H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241582	NM_152616.5(TRIM42):c.1189C>A (p.Gln397Lys)	TRIM42 (Q397K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239325	NM_152616.5(TRIM42):c.1707C>A (p.Asp569Glu)	TRIM42 (D569E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236139	NM_152616.5(TRIM42):c.982G>A (p.Asp328Asn)	TRIM42 (D328N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235429	NM_152616.5(TRIM42):c.569T>G (p.Val190Gly)	TRIM42 (V190G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225498	NM_152616.5(TRIM42):c.842G>T (p.Ser281Ile)	TRIM42 (S281I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209461	NM_152616.5(TRIM42):c.2086G>A (p.Val696Met)	TRIM42 (V696M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1340908	GRCh37/hg19 3q23(chr3:140298562-140658560)x1	TRIM42	Copy number loss	not provided	GLikely benign
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	CHST2, CLRN1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 980063	GRCh37/hg19 3q23(chr3:138737687-142053396)x1	PRR23C, CLSTN2 +18 more	Copy number loss	not provided	GPathogenic
Select item 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	GPathogenic
Select item 686241	GRCh37/hg19 3q22.2-23(chr3:135186881-140826836)x3	A4GNT, ARMC8 +31 more	Copy number gain	not provided	GUncertain significance
Select item 625695	GRCh37/hg19 3q22.2-24(chr3:135288025-146874012)	A4GNT, ARMC8 +54 more	Copy number gain	not provided	GPathogenic
Select item 562823	GRCh37/hg19 3q23(chr3:140341299-140611061)x1	TRIM42	Copy number loss	not provided	GLikely benign
Select item 562819	GRCh37/hg19 3q22.3-23(chr3:138023193-140565017)x3	MRAS, PRR23A +16 more	Copy number gain	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253333	GRCh37/hg19 3q22.3-23(chr3:135935129-141867748)x3	ARMC8, ZBTB38 +36 more	Copy number gain	See cases	GLikely pathogenic
Select item 155567	GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1	A4GNT, AMOTL2 +301 more	Copy number loss	See cases	GPathogenic
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	AMOTL2, DNAJC13 +1343 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	ALDH1L1, ALDH1L1-AS1 +484 more	Copy number gain	See cases	GUncertain significance
Select item 153678	GRCh38/hg38 3q23(chr3:140622457-140892316)x1	LOC129937669, TRIM42	Copy number loss	See cases	GUncertain significance
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 151765	GRCh38/hg38 3q22.2-23(chr3:134333553-141701458)x1	A4GNT, AMOTL2 +167 more	Copy number loss	See cases	GPathogenic
Select item 150251	GRCh38/hg38 3q22.3-24(chr3:137991123-143618786)x1	A4GNT, ARMC8 +155 more	Copy number loss	See cases	GPathogenic
Select item 149077	GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	LOC129937661, LOC129937662 +320 more	Copy number loss	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	ARMC8, ASTE1 +345 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 145313	GRCh38/hg38 3q22.3-24(chr3:137932000-144468739)x1	A4GNT, ARMC8 +171 more	Copy number loss	See cases	GPathogenic
Select item 57832	GRCh38/hg38 3q22.2-24(chr3:135227451-145870770)x1	A4GNT, ARMC8 +221 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 68