ClinVar for Gene (Select 3227) - ClinVar

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Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3106675	NM_014212.4(HOXC11):c.93C>A (p.Asn31Lys)	HOTAIR, HOXC11 (N31K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106674	NM_014212.4(HOXC11):c.726C>G (p.Phe242Leu)	HOXC11 (F242L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3106671	NM_014212.4(HOXC11):c.374A>G (p.His125Arg)	HOTAIR, HOXC11 (H125R)	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 3106669	NM_014212.4(HOXC11):c.208G>A (p.Val70Ile)	HOTAIR, HOXC11 (V70I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643051	NM_014212.4(HOXC11):c.765G>C (p.Val255=)	HOXC11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2547942	NM_014212.4(HOXC11):c.278A>G (p.Tyr93Cys)	HOTAIR, HOXC11 (Y93C)	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 2463478	NM_014212.4(HOXC11):c.502G>A (p.Glu168Lys)	HOTAIR, HOXC11 (E168K)	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 2399350	NM_014212.4(HOXC11):c.404C>G (p.Ala135Gly)	HOTAIR, HOXC11 (A135G)	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 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 2265914	NM_014212.4(HOXC11):c.896C>G (p.Ser299Trp)	HOXC11, LOC130008001 (S299W)	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 2244578	NM_014212.4(HOXC11):c.734G>C (p.Arg245Pro)	HOXC11 (R245P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2212895	NM_014212.4(HOXC11):c.773A>G (p.Asn258Ser)	HOXC11 (N258S)	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 635875	Single allele	AMHR2, ATF7 +26 more	Deletion	Neurodevelopmental disorder	GPathogenic
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
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 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

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Links from Gene

Items: 30