ClinVar for Gene (Select 3223) - ClinVar - NCBI

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Links from Gene

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3106707	NM_004503.4(HOXC6):c.679G>A (p.Glu227Lys)	HOXC4, HOXC5 +1 more (E145K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106706	NM_004503.4(HOXC6):c.319G>C (p.Glu107Gln)	HOXC4, HOXC5 +1 more (E107Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106705	NM_004503.4(HOXC6):c.248T>C (p.Met83Thr)	HOXC4, HOXC5 +1 more (M83T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3106704	NM_004503.4(HOXC6):c.128C>T (p.Ala43Val)	HOXC4, HOXC5 +1 more (A43V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2474714	NM_004503.4(HOXC6):c.259T>A (p.Cys87Ser)	HOXC4, HOXC5 +1 more (C5S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400061	NM_004503.4(HOXC6):c.586T>A (p.Trp196Arg)	HOXC4, HOXC5 +1 more (W196R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359496	NM_004503.4(HOXC6):c.625G>A (p.Gly209Ser)	HOXC4, HOXC5 +1 more (G127S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338331	NM_004503.4(HOXC6):c.611C>T (p.Ser204Phe)	HOXC4, HOXC5 +1 more (S122F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289496	NM_004503.4(HOXC6):c.79A>C (p.Asn27His)	HOXC4, HOXC5 +1 more (N27H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2245273	NM_004503.4(HOXC6):c.184G>A (p.Val62Met)	HOXC4, HOXC5 +1 more (V62M)	Single nucleotide variant (missense variant +2 more)	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)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	AMHR2, ATF7 +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	LOC130008916, LOC130008917 +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