LOC126859870[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 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	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 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 58455	GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1	LOC126859858, LOC126859859 +340 more	Copy number loss	See cases	GPathogenic
Select item 58456	GRCh38/hg38 6q25.3-27(chr6:159825913-170612001)x1	AFDN, AFDN-DT +322 more	Copy number loss	See cases	GPathogenic
Select item 150838	GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1	LOC129997629, LOC129997630 +323 more	Copy number loss	See cases	GPathogenic
Select item 58458	GRCh38/hg38 6q25.3-27(chr6:160359686-170608818)x1	AFDN, AFDN-DT +300 more	Copy number loss	See cases	GPathogenic
Select item 144539	GRCh38/hg38 6q25.3-27(chr6:160484810-170612011)x1	AFDN, AFDN-DT +298 more	Copy number loss	See cases	GPathogenic
Select item 155552	GRCh38/hg38 6q26-27(chr6:160899898-170610394)x1	AFDN, AFDN-DT +278 more	Copy number loss	See cases	GPathogenic
Select item 59548	GRCh38/hg38 6q26(chr6:161289959-162789916)x3	LOC105378098, LOC121132714 +13 more	Copy number gain	See cases	GUncertain significance
Select item 2579276	GRCh38/hg38 6q26-27(chr6:161349282-170584790)x1	AFDN, AFDN-DT +255 more	Copy number loss	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GPathogenic
Select item 7034	NM_004562.2(PRKN):c.172-?_871+?del	LOC126859869, LOC126859870 +2 more	Deletion	Autosomal recessive juvenile Parkinson disease 2	GPathogenic
Select item 2499665	GRCh38/hg38 6q26(chr6:161896065-162548892)	LOC126859869, LOC126859870 +2 more	Copy number loss	See cases	GUncertain significance
Select item 545313	NC_000006.12:g.(?_161966350)_(162292493_?)del	LOC126859869, LOC126859870 +2 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 545314	NC_000006.12:g.(?_161982200)_(162323320_?)del	LOC126859869, LOC126859870 +2 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 545315	NC_000006.12:g.(?_162035873)_(162195188_?)del	LOC126859869, LOC126859870 +1 more	Deletion	Autism	GLikely pathogenic
Select item 545316	NC_000006.12:g.(?_162036131)_(162191715_?)del	LOC126859869, LOC126859870 +1 more	Deletion	Autism	GLikely pathogenic
Select item 58468	GRCh38/hg38 6q26-27(chr6:162042846-170608818)x1	LOC129997659, LOC129997660 +248 more	Copy number loss	See cases	GPathogenic
Select item 154543	GRCh38/hg38 6q26(chr6:162086023-162820579)x3	LOC126859870, LOC126859871 +2 more	Copy number gain	See cases	GUncertain significance
Select item 545317	NC_000006.12:g.(?_162088360)_(162527858_?)del	LOC126859870, LOC126859871 +1 more	Deletion	Schizophrenia	GLikely pathogenic

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Items: 24