ClinVar for Gene (Select 6996) - ClinVar

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Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3175400	NM_003211.6(TDG):c.985G>A (p.Val329Ile)	TDG (V186I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175399	NM_003211.6(TDG):c.86C>G (p.Ala29Gly)	TDG (A29G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175398	NM_003211.6(TDG):c.868A>C (p.Ile290Leu)	TDG (I147L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175397	NM_003211.6(TDG):c.7G>C (p.Ala3Pro)	TDG (A3P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3175396	NM_003211.6(TDG):c.53A>G (p.Tyr18Cys)	TDG (Y18C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175395	NM_003211.6(TDG):c.295A>C (p.Thr99Pro)	TDG (T99P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3175394	NM_003211.6(TDG):c.129A>T (p.Glu43Asp)	TDG (E43D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175393	NM_003211.6(TDG):c.128A>T (p.Glu43Val)	TDG (E43V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175391	NM_003211.6(TDG):c.10G>A (p.Glu4Lys)	TDG (E4K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2685453	GRCh37/hg19 12q23.3(chr12:104255219-104417352)x1	GLT8D2, HSP90B1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 2601204	NM_003211.6(TDG):c.911G>A (p.Arg304Gln)	TDG (R161Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554930	NM_003211.6(TDG):c.868A>G (p.Ile290Val)	TDG (I290V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484598	NM_003211.6(TDG):c.352G>A (p.Glu118Lys)	TDG (E118K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2475474	NM_003211.6(TDG):c.574A>G (p.Met192Val)	TDG (M192V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471846	NM_003211.6(TDG):c.534T>A (p.Asp178Glu)	TDG (D178E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378166	NM_003211.6(TDG):c.17C>G (p.Ala6Gly)	TDG (A6G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2296811	NM_003211.6(TDG):c.140C>G (p.Pro47Arg)	TDG (P47R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245477	NM_003211.6(TDG):c.733G>A (p.Val245Ile)	TDG (V102I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808032	GRCh37/hg19 12q23.2-23.3(chr12:103588380-105161579)x3	C12orf42, CHST11 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1527730	GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)	ABTB3, ACACB +74 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527728	GRCh37/hg19 12q23.1-23.3(chr12:100580198-105804075)	ACTR6, ALDH1L2 +39 more	Copy number gain	not specified	GUncertain significance
Select item 1340640	GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1	ABTB3, ACACB +73 more	Copy number loss	not provided	GPathogenic
Select item 981867	NM_003211.6(TDG):c.1090_1090+1insTTGAGAGC	TDG	Insertion (splice donor variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 685970	GRCh37/hg19 12q23.2-23.3(chr12:102414522-105845768)x1	TXNRD1, UQCC6 +23 more	Copy number loss	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +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	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	LOC130008616, LOC130008617 +712 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 149859	GRCh38/hg38 12q23.3(chr12:103500125-104726872)x1	C12orf42, CHST11 +115 more	Copy number loss	See cases	GUncertain significance

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Links from Gene

Items: 30