8550[geneid] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	LOC130008692, LOC130008693 +316 more	Copy number loss	See cases	GPathogenic
Select item 147639	GRCh38/hg38 12q24.12(chr12:111724654-111867329)x3	ACAD10, ALDH2 +8 more	Copy number gain	See cases	GBenign
Select item 3123359	NM_003668.4(MAPKAPK5):c.10G>A (p.Glu4Lys)	MAPKAPK5, MAPKAPK5-AS1 (E4K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2294416	NM_003668.4(MAPKAPK5):c.17A>G (p.Asp6Gly)	MAPKAPK5, MAPKAPK5-AS1 (D6G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2339558	NM_003668.4(MAPKAPK5):c.31A>G (p.Ile11Val)	MAPKAPK5, MAPKAPK5-AS1 (I11V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2356390	NM_003668.4(MAPKAPK5):c.139C>T (p.Arg47Trp)	MAPKAPK5 (R47W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326269	NM_003668.4(MAPKAPK5):c.172A>C (p.Lys58Gln)	MAPKAPK5 (K58Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686938	NM_003668.4(MAPKAPK5):c.207_208dup (p.Ala70fs)	MAPKAPK5 (A70fs)	Microsatellite (frameshift variant +1 more)	Neurocardiofaciodigital syndrome	GPathogenic
Select item 2502378	NM_003668.4(MAPKAPK5):c.320G>T (p.Gly107Val)	MAPKAPK5 (G107V +1 more)	Single nucleotide variant (missense variant +1 more)	Neurocardiofaciodigital syndrome	GPathogenic
Select item 2318811	NM_003668.4(MAPKAPK5):c.410G>A (p.Arg137Gln)	MAPKAPK5 (R68Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2266692	NM_003668.4(MAPKAPK5):c.445C>T (p.Leu149Phe)	MAPKAPK5 (L149F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509688	NM_003668.4(MAPKAPK5):c.501G>C (p.Leu167Phe)	MAPKAPK5 (L137F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1699382	NM_003668.4(MAPKAPK5):c.590C>T (p.Ala197Val)	MAPKAPK5 (A128V +4 more)	Single nucleotide variant (missense variant +1 more)	Syndromic disease	GUncertain significance
Select item 3123360	NM_003668.4(MAPKAPK5):c.617C>A (p.Ser206Tyr)	MAPKAPK5 (S176Y +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405098	NM_003668.4(MAPKAPK5):c.638C>T (p.Pro213Leu)	MAPKAPK5 (P114L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123361	NM_003668.4(MAPKAPK5):c.641C>T (p.Thr214Met)	MAPKAPK5 (T115M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2502376	NM_003668.4(MAPKAPK5):c.671del (p.Leu224fs)	MAPKAPK5 (L125fs +5 more)	Deletion (frameshift variant)	Neurocardiofaciodigital syndrome	GPathogenic
Select item 3293269	NM_003668.4(MAPKAPK5):c.944C>T (p.Pro315Leu)	MAPKAPK5 (P281L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123362	NM_003668.4(MAPKAPK5):c.962T>C (p.Met321Thr)	MAPKAPK5 (M321T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604022	NM_003668.4(MAPKAPK5):c.1005A>C (p.Glu335Asp)	MAPKAPK5 (E305D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2430980	NM_003668.4(MAPKAPK5):c.1017C>G (p.Asn339Lys)	MAPKAPK5 (N240K +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1686939	NM_003668.4(MAPKAPK5):c.1077dup (p.Leu360fs)	MAPKAPK5 (L261fs +5 more)	Duplication (frameshift variant)	Neurocardiofaciodigital syndrome	GPathogenic
Select item 2369574	NM_003668.4(MAPKAPK5):c.1150G>A (p.Glu384Lys)	MAPKAPK5 (E350K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2502375	NM_003668.4(MAPKAPK5):c.1180C>T (p.Arg394Ter)	MAPKAPK5 (R394* +5 more)	Single nucleotide variant (nonsense)	Neurocardiofaciodigital syndrome	GPathogenic
Select item 2502377	NM_003668.4(MAPKAPK5):c.1303C>T (p.Gln435Ter)	MAPKAPK5 (Q437* +8 more)	Single nucleotide variant (nonsense)	Neurocardiofaciodigital syndrome	GPathogenic
Select item 2314805	NM_003668.4(MAPKAPK5):c.1324C>T (p.Arg442Cys)	MAPKAPK5 (R414C +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2430977	NM_003668.4(MAPKAPK5):c.1405G>A (p.Glu469Lys)	MAPKAPK5 (E370K +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3293268	NM_003668.4(MAPKAPK5):c.1407A>C (p.Glu469Asp)	MAPKAPK5 (E370D +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 624470	GRCh37/hg19 12q24.12(chr12:111861041-112280895)x3	ATXN2, BRAP +4 more	Copy number gain	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 394458	GRCh37/hg19 12q24.12-24.13(chr12:112194796-112304163)x3	ACAD10, ALDH2 +1 more	Copy number gain	See cases	GBenign/Likely benign
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 226222	GRCh37/hg19 12q24.12-24.13(chr12:112183921-112318246)	ACAD10, MAPKAPK5 +1 more	Copy number gain	Abnormal esophagus morphology	GBenign
Select item 226221	GRCh37/hg19 12q24.12-24.13(chr12:112183225-112327166)	MAPKAPK5, ACAD10 +1 more	Copy number gain	Abnormal esophagus morphology	GBenign

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Items: 36