TMT1A[gene] - ClinVar

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Items: 22

	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 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	LOC130007898, LOC130007899 +206 more	Copy number loss	See cases	GPathogenic
Select item 152631	GRCh38/hg38 12q13.12(chr12:50600204-50953386)x3	ATF1, DIP2B +14 more	Copy number gain	See cases	GUncertain significance
Select item 152062	GRCh38/hg38 12q13.12-13.13(chr12:50633888-52851909)x1	ACVR1B, ACVRL1 +136 more	Copy number loss	See cases	GPathogenic
Select item 3179999	NM_014033.4(TMT1A):c.194T>C (p.Phe65Ser)	TMT1A (F65S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327387	NM_014033.4(TMT1A):c.215T>C (p.Leu72Pro)	TMT1A (L72P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180000	NM_014033.4(TMT1A):c.224T>C (p.Leu75Pro)	TMT1A (L75P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180002	NM_014033.4(TMT1A):c.254T>C (p.Phe85Ser)	TMT1A (F85S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180003	NM_014033.4(TMT1A):c.296C>G (p.Pro99Arg)	TMT1A (P99R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180004	NM_014033.4(TMT1A):c.299A>T (p.Asn100Ile)	TMT1A (N100I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180005	NM_014033.4(TMT1A):c.362G>A (p.Arg121His)	TMT1A (R121H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180006	NM_014033.4(TMT1A):c.409T>C (p.Ser137Pro)	TMT1A (S137P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180007	NM_014033.4(TMT1A):c.472C>T (p.Arg158Cys)	TMT1A (R158C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180008	NM_014033.4(TMT1A):c.536A>G (p.Glu179Gly)	TMT1A (E179G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180009	NM_014033.4(TMT1A):c.553T>C (p.Tyr185His)	TMT1A (Y185H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180010	NM_014033.4(TMT1A):c.580G>A (p.Ala194Thr)	TMT1A (A194T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327389	NM_014033.4(TMT1A):c.637G>A (p.Glu213Lys)	TMT1A (E213K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327388	NM_014033.4(TMT1A):c.673A>G (p.Ile225Val)	TMT1A (I225V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
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: 22