HOXC10[gene] - ClinVar

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

Search results

Items: 29

	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 2516107	NM_017409.4(HOXC10):c.142G>A (p.Gly48Arg)	HOXC-AS3, HOXC10 (G48R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241537	NM_017409.4(HOXC10):c.167G>T (p.Arg56Met)	HOXC-AS3, HOXC10 (R56M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380449	NM_017409.4(HOXC10):c.193G>A (p.Ala65Thr)	HOXC-AS3, HOXC10 (A65T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365160	NM_017409.4(HOXC10):c.247A>C (p.Lys83Gln)	HOXC-AS3, HOXC10 (K83Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 718767	NM_017409.4(HOXC10):c.252C>T (p.Ala84=)	HOXC-AS3, HOXC10	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2334979	NM_017409.4(HOXC10):c.253G>T (p.Ala85Ser)	HOXC-AS3, HOXC10 (A85S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3106664	NM_017409.4(HOXC10):c.259C>A (p.Arg87Ser)	HOXC-AS3, HOXC10 (R87S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3106665	NM_017409.4(HOXC10):c.359C>A (p.Ala120Glu)	HOXC10 (A120E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541973	NM_017409.4(HOXC10):c.416G>C (p.Gly139Ala)	HOXC10 (G139A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284671	NM_017409.4(HOXC10):c.418G>C (p.Glu140Gln)	HOXC10 (E140Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284670	NM_017409.4(HOXC10):c.460A>T (p.Ser154Cys)	HOXC10 (S154C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106666	NM_017409.4(HOXC10):c.467C>G (p.Ser156Cys)	HOXC10 (S156C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351615	NM_017409.4(HOXC10):c.522C>A (p.Phe174Leu)	HOXC10 (F174L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106667	NM_017409.4(HOXC10):c.605C>T (p.Pro202Leu)	HOXC10 (P202L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106668	NM_017409.4(HOXC10):c.665G>T (p.Gly222Val)	HOXC10 (G222V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340140	NM_017409.4(HOXC10):c.697G>C (p.Glu233Gln)	HOXC10 (E233Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376908	NM_017409.4(HOXC10):c.725C>T (p.Pro242Leu)	HOXC10 (P242L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595295	NM_017409.4(HOXC10):c.757A>C (p.Ile253Leu)	HOXC10 (I253L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541392	NM_017409.4(HOXC10):c.955C>T (p.Arg319Cys)	HOXC10 (R319C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277584	NM_017409.4(HOXC10):c.997C>T (p.Arg333Trp)	HOXC10 (R333W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550932	NM_017409.4(HOXC10):c.998G>C (p.Arg333Pro)	HOXC10 (R333P)	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

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: 29