HOXC9[gene] - ClinVar

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Items: 24

	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 2619654	NM_006897.3(HOXC9):c.16C>T (p.Pro6Ser)	HOXC9 (P6S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301181	NM_006897.3(HOXC9):c.55G>A (p.Asp19Asn)	HOXC9 (D19N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392938	NM_006897.3(HOXC9):c.79A>G (p.Arg27Gly)	HOXC9 (R27G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106712	NM_006897.3(HOXC9):c.277A>C (p.Met93Leu)	HOXC9 (M93L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106713	NM_006897.3(HOXC9):c.302C>G (p.Ser101Cys)	HOXC9 (S101C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776712	NM_006897.3(HOXC9):c.365C>T (p.Ala122Val)	HOXC9 (A122V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2495949	NM_006897.3(HOXC9):c.389G>T (p.Cys130Phe)	HOXC9 (C130F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389332	NM_006897.3(HOXC9):c.413A>C (p.Tyr138Ser)	HOXC9 (Y138S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106714	NM_006897.3(HOXC9):c.425T>G (p.Met142Arg)	HOXC9 (M142R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205239	NM_006897.3(HOXC9):c.425T>A (p.Met142Lys)	HOXC9 (M142K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284680	NM_006897.3(HOXC9):c.502A>C (p.Ser168Arg)	HOXC9 (S168R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106715	NM_006897.3(HOXC9):c.541A>C (p.Asn181His)	HOXC9 (N181H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284679	NM_006897.3(HOXC9):c.555C>G (p.Asn185Lys)	HOXC9 (N185K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593536	NM_006897.3(HOXC9):c.569G>A (p.Arg190His)	HOXC9 (R190H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324534	NM_006897.3(HOXC9):c.661C>T (p.Arg221Cys)	HOXC9 (R221C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553763	NM_006897.3(HOXC9):c.700C>T (p.Arg234Trp)	HOXC9 (R234W)	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

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Items: 24