ClinVar for Gene (Select 3226) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3106667	NM_017409.4(HOXC10):c.605C>T (p.Pro202Leu)	HOXC10 (P202L)	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 3106665	NM_017409.4(HOXC10):c.359C>A (p.Ala120Glu)	HOXC10 (A120E)	Single nucleotide variant (missense variant)	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 2595295	NM_017409.4(HOXC10):c.757A>C (p.Ile253Leu)	HOXC10 (I253L)	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 2541973	NM_017409.4(HOXC10):c.416G>C (p.Gly139Ala)	HOXC10 (G139A)	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 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 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 2376908	NM_017409.4(HOXC10):c.725C>T (p.Pro242Leu)	HOXC10 (P242L)	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 2351615	NM_017409.4(HOXC10):c.522C>A (p.Phe174Leu)	HOXC10 (F174L)	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 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 2277584	NM_017409.4(HOXC10):c.997C>T (p.Arg333Trp)	HOXC10 (R333W)	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 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 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

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Links from Gene

Items: 27