LOC126859840[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic
Select item 58452	GRCh38/hg38 6q24.2-25.2(chr6:144932561-152985364)x1	ADGB, ADGB-DT +227 more	Copy number loss	See cases	GPathogenic
Select item 2663766	NC_000006.12:g.(?_150381239)_(159553952_?)del	LOC129997480, LOC129997522 +288 more	Deletion	Chromosome 6q24-q25 deletion syndrome	GPathogenic
Select item 150766	GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1	AKAP12, ARID1B +288 more	Copy number loss	See cases	GPathogenic
Select item 2579284	GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1	AKAP12, ARID1B +208 more	Copy number loss	Coffin-Siris syndrome 1	GPathogenic
Select item 538429	NC_000006.12:g.(?_152122416)_(153426916_?)del	SYNE1, SYNE1-AS1 +31 more	Deletion	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GPathogenic
Select item 154821	GRCh38/hg38 6q25.2(chr6:152376315-152902773)x3	LINC02840, LOC126859838 +8 more	Copy number gain	See cases	GUncertain significance
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	LOC101929460, LOC102724087 +572 more	Copy number gain	See cases	GPathogenic
Select item 3024889	NM_025107.3(MYCT1):c.243A>T (p.Val81=)	LOC126859840, MYCT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3155410	NM_025107.3(MYCT1):c.268T>C (p.Phe90Leu)	LOC126859840, MYCT1 (F42L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348970	NM_025107.3(MYCT1):c.293G>C (p.Arg98Thr)	LOC126859840, MYCT1 (R50T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218090	NM_025107.3(MYCT1):c.299G>C (p.Ser100Thr)	LOC126859840, MYCT1 (S100T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155417	NM_025107.3(MYCT1):c.304C>G (p.Pro102Ala)	LOC126859840, MYCT1 (P102A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272708	NM_025107.3(MYCT1):c.337A>G (p.Arg113Gly)	LOC126859840, MYCT1 (R65G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297301	NM_025107.3(MYCT1):c.425T>G (p.Leu142Arg)	LOC126859840, MYCT1 (L142R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532322	NM_025107.3(MYCT1):c.520C>T (p.Pro174Ser)	LOC126859840, MYCT1 (P126S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296784	NM_025107.3(MYCT1):c.523C>T (p.Pro175Ser)	LOC126859840, MYCT1 (P127S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297300	NM_025107.3(MYCT1):c.530C>T (p.Pro177Leu)	LOC126859840, MYCT1 (P129L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155424	NM_025107.3(MYCT1):c.589A>T (p.Ser197Cys)	LOC126859840, MYCT1 (S149C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307522	NM_025107.3(MYCT1):c.659C>T (p.Pro220Leu)	LOC126859840, MYCT1 (P172L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155432	NM_025107.3(MYCT1):c.677A>T (p.Glu226Val)	LOC126859840, MYCT1 (E178V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155436	NM_025107.3(MYCT1):c.679T>G (p.Ser227Ala)	LOC126859840, MYCT1 (S227A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 24