ClinVar for Gene (Select 80072) - ClinVar - NCBI

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Links from Gene

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1698657	NM_000520.5(HEXA):c.-768A>G	HEXA-AS1, LOC130057475 +1 more	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 1698656	NM_000520.5(HEXA):c.-593T>C	HEXA-AS1, HEXA	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 1698655	NM_000520.5(HEXA):c.-2343_-2342delAA	HEXA, HEXA-AS1	Deletion (non-coding transcript variant)	not specified	GUncertain significance
Select item 1677038	NM_000520.5(HEXA):c.-2523T>C	HEXA, HEXA-AS1	Single nucleotide variant (non-coding transcript variant)	not specified	GBenign
Select item 1339701	NM_000520.5(HEXA):c.-898A>T	HEXA, HEXA-AS1	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 1264792	NC_000015.10:g.72376198T>C	HEXA, HEXA-AS1	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 830311	GRCh37/hg19 15q23(chr15:72662932-72670877)	HEXA, HEXA-AS1	Copy number loss	Tay-Sachs disease	GPathogenic
Select item 317055	NM_000520.5(HEXA):c.-207A>G	HEXA, HEXA-AS1	Single nucleotide variant (non-coding transcript variant)	Tay-Sachs disease	GUncertain significance
Select item 317054	NM_000520.5(HEXA):c.-181T>C	HEXA, HEXA-AS1	Single nucleotide variant (non-coding transcript variant)	Tay-Sachs disease	GUncertain significance
Select item 317053	NM_000520.5(HEXA):c.-167G>A	HEXA-AS1, HEXA	Single nucleotide variant (non-coding transcript variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 317052	NM_000520.5(HEXA):c.-141G>A	HEXA, HEXA-AS1	Single nucleotide variant (non-coding transcript variant)	Tay-Sachs disease	GUncertain significance
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	ACSBG1, ADPGK +487 more	Copy number loss	See cases	GPathogenic
Select item 147526	GRCh38/hg38 15q23-24.1(chr15:72366869-72671688)x1	ARIH1, GOLGA6B +15 more	Copy number loss	See cases	GUncertain significance
Select item 58353	GRCh38/hg38 15q23-24.1(chr15:72058544-72481033)x3	ARIH1, CELF6 +33 more	Copy number gain	See cases	GUncertain significance
Select item 57140	GRCh38/hg38 15q23-24.1(chr15:68830574-73823337)x1	ADPGK, ADPGK-AS1 +197 more	Copy number loss	See cases	GPathogenic
Select item 3891	NM_000520.4(HEXA):c.-2564_253+5128delinsG	HEXA, HEXA-AS1 +1 more	Indel	Tay-Sachs disease	GPathogenic/Likely pathogenic