"GeneDx"[submitter] AND "HTT"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57874	GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1	ABLIM2, ACOX3 +597 more	Copy number loss	See cases	GPathogenic
Select item 57873	GRCh38/hg38 4p16.3(chr4:56878-3870653)x1	CTBP1-AS, CTBP1-DT +278 more	Copy number loss	See cases	GPathogenic
Select item 57905	GRCh38/hg38 4p16.3(chr4:72555-3206313)x1	ADD1, ATP5ME +249 more	Copy number loss	See cases	GPathogenic
Select item 57904	GRCh38/hg38 4p16.3(chr4:72555-3785385)x1	LOC123466217, LOC123466218 +277 more	Copy number loss	See cases	GPathogenic
Select item 146010	GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1	LOC129992049, LOC129992050 +537 more	Copy number loss	See cases	GPathogenic
Select item 145991	GRCh38/hg38 4p16.3(chr4:78578-3363219)x1	LOC129992097, LOC129992098 +256 more	Copy number loss	See cases	GPathogenic
Select item 57939	GRCh38/hg38 4p16.3(chr4:85149-4405782)x1	ADD1, ADRA2C +291 more	Copy number loss	See cases	GPathogenic
Select item 57938	GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1	LOC129992176, LOC129992177 +439 more	Copy number loss	See cases	GPathogenic
Select item 57936	GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1	ADD1, ADRA2C +414 more	Copy number loss	See cases	GPathogenic
Select item 417743	NM_001388492.1(HTT):c.3779C>T (p.Thr1260Met)	HTT (T1262M)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 225541	NM_001388492.1(HTT):c.4463+1G>A	HTT	Single nucleotide variant (splice donor variant)	not specified	GUncertain significance
Select item 225542	NM_001388492.1(HTT):c.8151T>A (p.Phe2717Leu)	HTT (F2719L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 253666	GRCh37/hg19 4p16.3-16.1(chr4:127233-8667610)x3	ABLIM2, ACOX3 +89 more	Copy number gain	See cases	GPathogenic
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253431	GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1	BOD1L1, LDB2 +161 more	Copy number loss	See cases	GPathogenic
Select item 3361822	NM_001388492.1(HTT):c.1496C>T (p.Pro499Leu)	HTT (P499L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361821	NM_001388492.1(HTT):c.2414C>T (p.Ala805Val)	HTT (A805V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance