HOTAIR[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 59018	GRCh38/hg38 12q13.13(chr12:53224024-54222450)x1	AAAS, AMHR2 +114 more	Copy number loss	See cases	GPathogenic
Select item 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	PMEL, PPP1R1A +219 more	Copy number gain	See cases	GPathogenic
Select item 152627	GRCh38/hg38 12q13.13(chr12:53841686-54136856)x3	FAM242C, FLJ12825 +40 more	Copy number gain	See cases	GLikely benign
Select item 3106673	NM_014212.4(HOXC11):c.70G>C (p.Glu24Gln)	HOTAIR, HOXC11 (E24Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106675	NM_014212.4(HOXC11):c.93C>A (p.Asn31Lys)	HOTAIR, HOXC11 (N31K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284672	NM_014212.4(HOXC11):c.98A>G (p.Tyr33Cys)	HOTAIR, HOXC11 (Y33C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509196	NM_014212.4(HOXC11):c.191C>T (p.Ser64Leu)	HOTAIR, HOXC11 (S64L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106669	NM_014212.4(HOXC11):c.208G>A (p.Val70Ile)	HOTAIR, HOXC11 (V70I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547942	NM_014212.4(HOXC11):c.278A>G (p.Tyr93Cys)	HOTAIR, HOXC11 (Y93C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106670	NM_014212.4(HOXC11):c.359C>T (p.Ser120Phe)	HOTAIR, HOXC11 (S120F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106671	NM_014212.4(HOXC11):c.374A>G (p.His125Arg)	HOTAIR, HOXC11 (H125R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607161	NM_014212.4(HOXC11):c.376C>A (p.His126Asn)	HOTAIR, HOXC11 (H126N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399350	NM_014212.4(HOXC11):c.404C>G (p.Ala135Gly)	HOTAIR, HOXC11 (A135G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258049	NM_014212.4(HOXC11):c.406G>T (p.Gly136Cys)	HOTAIR, HOXC11 (G136C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207506	NM_014212.4(HOXC11):c.487G>C (p.Gly163Arg)	HOTAIR, HOXC11 (G163R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463478	NM_014212.4(HOXC11):c.502G>A (p.Glu168Lys)	HOTAIR, HOXC11 (E168K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383768	NM_014212.4(HOXC11):c.523G>A (p.Gly175Ser)	HOTAIR, HOXC11 (G175S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405491	NM_014212.4(HOXC11):c.541C>T (p.Pro181Ser)	HOTAIR, HOXC11 (P181S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374769	NM_014212.4(HOXC11):c.569C>G (p.Ala190Gly)	HOTAIR, HOXC11 +1 more (A190G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2228996	NM_014212.4(HOXC11):c.574C>G (p.Arg192Gly)	HOTAIR, HOXC11 +1 more (R192G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 635875	Single allele	AMHR2, ATF7 +26 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 26