LOC129997526[gene] - ClinVar - NCBI

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Items: 18

	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 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	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 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	LOC101929460, LOC102724087 +572 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	LOC129997640, LOC129997641 +564 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	ACAT2, AFDN +549 more	Copy number loss	See cases	GPathogenic
Select item 145547	GRCh38/hg38 6q25.2-25.3(chr6:154178964-159020369)x1	ARID1B, CLDN20 +188 more	Copy number loss	See cases	GLikely pathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	IGF2R, KIF25 +540 more	Copy number loss	See cases	GPathogenic
Select item 148765	GRCh38/hg38 6q25.3-26(chr6:155378049-163133499)x1	SOD2, SOD2-OT1 +270 more	Copy number loss	See cases	GPathogenic
Select item 58454	GRCh38/hg38 6q25.3(chr6:155869250-156798955)x1	ARID1B, LOC105378073 +24 more	Copy number loss	See cases	GPathogenic
Select item 57138	GRCh38/hg38 6q25.3(chr6:156228411-157108989)x1	ARID1B, LOC105378073 +41 more	Copy number loss	See cases	GLikely pathogenic
Select item 154650	GRCh38/hg38 6q25.3(chr6:156353632-157547741)x3	ARID1B, LOC105378073 +58 more	Copy number gain	See cases	GLikely benign
Select item 147313	GRCh38/hg38 6q25.3(chr6:156353632-157449782)x1	ARID1B, LOC105378073 +55 more	Copy number loss	See cases	GPathogenic
Select item 146050	GRCh38/hg38 6q25.3(chr6:156353632-157547682)x1	ARID1B, LOC105378073 +58 more	Copy number loss	See cases	GUncertain significance
Select item 1216103	NM_001374828.1(ARID1B):c.1791+268dup	ARID1B, LOC129997526 +1 more	Duplication (intron variant)	not provided	GLikely benign
Select item 1191526	NM_001374828.1(ARID1B):c.1791+269T>C	ARID1B, LOC129997526	Single nucleotide variant (intron variant)	not provided	GLikely benign