LOC126806624[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936094, LOC129936095 +647 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	ANKRD28, ARL8B +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	LOC129936377, LOC129936378 +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	ACAA1, ACVR2B +730 more	Copy number gain	See cases	GPathogenic
Select item 1703229	Single allele	HDAC11, LOC126806611 +244 more	Deletion	3p- syndrome	GPathogenic
Select item 155700	GRCh38/hg38 3p25.1-24.3(chr3:14360747-21656134)x4	ANKRD28, BALR6 +214 more	Copy number gain	See cases	GPathogenic
Select item 57700	GRCh38/hg38 3p24.3(chr3:18253476-20137057)x3	BALR6, EFHB +39 more	Copy number gain	See cases	GUncertain significance
Select item 147343	GRCh38/hg38 3p24.3(chr3:18366779-20647947)x1	EFHB, KAT2B +53 more	Copy number loss	See cases	GUncertain significance
Select item 2538773	NM_144633.3(KCNH8):c.1651C>G (p.Leu551Val)	KCNH8, LOC126806624 (L551V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 791911	NM_144633.3(KCNH8):c.1722G>T (p.Pro574=)	KCNH8, LOC126806624	Single nucleotide variant (synonymous variant)	not provided	GBenign