5127[HGNC] - ClinVar

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Items: 35

	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 3284678	NM_004503.4(HOXC6):c.44C>T (p.Ala15Val)	HOXC4, HOXC5 +1 more (A15V)	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 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 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 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 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 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 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 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 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 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 3106700	NM_018953.4(HOXC5):c.28T>C (p.Tyr10His)	HOXC4, HOXC5 +1 more (Y10H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 783664	NM_018953.4(HOXC5):c.33G>C (p.Lys11Asn)	HOXC4, HOXC5 +1 more (K11N)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3106703	NM_018953.4(HOXC5):c.49C>A (p.Pro17Thr)	HOXC4, HOXC5 +1 more (P17T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284675	NM_018953.4(HOXC5):c.61A>G (p.Met21Val)	HOXC4, HOXC5 +1 more (M21V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612958	NM_018953.4(HOXC5):c.73G>A (p.Gly25Arg)	HOXC4, HOXC5 +1 more (G25R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284676	NM_018953.4(HOXC5):c.121G>A (p.Gly41Ser)	HOXC4, HOXC5 +1 more (G41S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 779525	NM_018953.4(HOXC5):c.237G>A (p.Ala79=)	HOXC4, HOXC5 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3106698	NM_018953.4(HOXC5):c.266A>G (p.Asp89Gly)	HOXC4, HOXC5 +1 more (D89G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243650	NM_018953.4(HOXC5):c.275C>T (p.Ala92Val)	HOXC4, HOXC5 +1 more (A92V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284677	NM_018953.4(HOXC5):c.283A>G (p.Asn95Asp)	HOXC4, HOXC5 +1 more (N95D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106701	NM_018953.4(HOXC5):c.290G>T (p.Gly97Val)	HOXC4, HOXC5 +1 more (G97V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289765	NM_018953.4(HOXC5):c.295T>A (p.Tyr99Asn)	HOXC4, HOXC5 +1 more (Y99N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597939	NM_018953.4(HOXC5):c.403C>A (p.Pro135Thr)	HOXC4, HOXC5 +1 more (P135T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106702	NM_018953.4(HOXC5):c.427T>A (p.Trp143Arg)	HOXC4, HOXC5 +1 more (W143R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540409	NM_018953.4(HOXC5):c.533G>A (p.Arg178His)	HOXC4, HOXC5 (R178H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2684674	GRCh37/hg19 12q13.13(chr12:54429002-54898430)x3	CBX5, COPZ1 +11 more	Copy number gain	not provided	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: 35