NTS[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	ACSS3, ALX1 +287 more	Copy number loss	See cases	GPathogenic
Select item 155425	GRCh38/hg38 12q21.31-21.32(chr12:85722164-86332192)x3	LOC126861589, LOC130008342 +3 more	Copy number gain	See cases	GLikely benign
Select item 2615268	NM_006183.5(NTS):c.34A>C (p.Met12Leu)	NTS (M12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202653	NM_006183.5(NTS):c.43C>G (p.Leu15Val)	NTS (L15V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 221327	NM_006183.5(NTS):c.185G>A (p.Cys62Tyr)	NTS (C62Y)	Single nucleotide variant (missense variant)	Breast ductal adenocarcinoma	GUncertain significance
Select item 2291341	NM_006183.5(NTS):c.299C>T (p.Ala100Val)	NTS (A100V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342460	NM_006183.5(NTS):c.346T>C (p.Phe116Leu)	NTS (F116L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548636	NM_006183.5(NTS):c.412G>C (p.Glu138Gln)	NTS (E138Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245028	NM_006183.5(NTS):c.469C>T (p.Pro157Ser)	NTS (P157S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781086	NM_006183.5(NTS):c.504C>T (p.Tyr168=)	NTS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3063243	GRCh37/hg19 12q21.1-21.33(chr12:74887087-90469800)x1	ACSS3, ALX1 +43 more	Copy number loss	not specified	GPathogenic
Select item 980449	GRCh37/hg19 12q21.31-21.32(chr12:85812496-86797077)x3	NTS, MGAT4C +1 more	Copy number gain	not provided	GUncertain significance
Select item 980448	GRCh37/hg19 12q21.31-21.32(chr12:86017618-86786974)x3	RASSF9, MGAT4C +1 more	Copy number gain	not provided	GLikely benign
Select item 980446	GRCh37/hg19 12q21.31(chr12:86223018-86302962)x1	RASSF9, NTS	Copy number loss	not provided	GLikely benign
Select item 815542	GRCh37/hg19 12q21.31(chr12:86173243-86421728)x3	RASSF9, NTS +1 more	Copy number gain	not provided	GUncertain significance
Select item 687328	GRCh37/hg19 12q21.2-22(chr12:77737623-94330526)x1	ACSS3, ALX1 +46 more	Copy number loss	not provided	GPathogenic
Select item 686682	GRCh37/hg19 12q21.31-21.32(chr12:86138213-88183106)x1	MGAT4C, NTS +1 more	Copy number loss	not provided	GUncertain significance
Select item 625562	GRCh37/hg19 12q21.31-21.32(chr12:82183041-88755577)	ALX1, C12orf29 +12 more	Copy number gain	not provided	GPathogenic
Select item 563978	GRCh37/hg19 12q21.31-21.32(chr12:86115942-88186381)x1	MGAT4C, NTS +1 more	Copy number loss	not provided	GUncertain significance
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

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Items: 23