6710[HGNC] - ClinVar

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Items: 39

	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 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 2350581	NM_000895.3(LTA4H):c.1811T>C (p.Val604Ala)	LTA4H (V569A +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2458890	NM_000895.3(LTA4H):c.1810G>T (p.Val604Leu)	LTA4H (V580L +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3121374	NM_000895.3(LTA4H):c.1763C>G (p.Thr588Ser)	LTA4H (T588S +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2353607	NM_000895.3(LTA4H):c.1760G>A (p.Arg587Gln)	LTA4H (R552Q +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3292187	NM_000895.3(LTA4H):c.1720G>T (p.Asp574Tyr)	LTA4H (D362Y +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3121373	NM_000895.3(LTA4H):c.1664C>T (p.Ala555Val)	LTA4H (A343V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2394190	NM_000895.3(LTA4H):c.1463A>G (p.Asn488Ser)	LTA4H (N464S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 718094	NM_000895.3(LTA4H):c.1443A>T (p.Glu481Asp)	LTA4H (E457D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2530434	NM_000895.3(LTA4H):c.1441G>A (p.Glu481Lys)	LTA4H (E446K +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2245506	NM_000895.3(LTA4H):c.1436C>T (p.Ala479Val)	LTA4H (A267V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610895	NM_000895.3(LTA4H):c.1435G>A (p.Ala479Thr)	LTA4H (A479T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 786610	NM_000895.3(LTA4H):c.1350C>T (p.Tyr450=)	LTA4H	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2538903	NM_000895.3(LTA4H):c.1277A>G (p.Lys426Arg)	LTA4H (K391R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369123	NM_000895.3(LTA4H):c.1241A>C (p.Lys414Thr)	LTA4H (K379T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121372	NM_000895.3(LTA4H):c.1193T>A (p.Leu398His)	LTA4H (L186H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318771	NM_000895.3(LTA4H):c.1100T>C (p.Val367Ala)	LTA4H (V367A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352185	NM_000895.3(LTA4H):c.1096C>G (p.Leu366Val)	LTA4H (L366V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786932	NM_000895.3(LTA4H):c.1074G>A (p.Gly358=)	LTA4H	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2643223	NM_000895.3(LTA4H):c.990C>T (p.Cys330=)	LTA4H	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 790122	NM_000895.3(LTA4H):c.804T>C (p.Tyr268=)	LTA4H	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2267483	NM_000895.3(LTA4H):c.796T>G (p.Phe266Val)	LTA4H (F266V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340675	NM_000895.3(LTA4H):c.668C>G (p.Ser223Cys)	LTA4H (S188C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516306	NM_000895.3(LTA4H):c.524G>A (p.Arg175His)	LTA4H (R151H +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3292189	NM_000895.3(LTA4H):c.467C>A (p.Thr156Asn)	LTA4H (T132N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2286070	NM_000895.3(LTA4H):c.346C>T (p.Leu116Phe)	LTA4H (L116F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121377	NM_000895.3(LTA4H):c.309A>G (p.Ile103Met)	LTA4H (I103M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 718095	NM_000895.3(LTA4H):c.290+9G>C	LTA4H	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 718032	NM_000895.3(LTA4H):c.280G>A (p.Ala94Thr)	LTA4H (A94T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3121376	NM_000895.3(LTA4H):c.259A>G (p.Met87Val)	LTA4H (M63V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3121375	NM_000895.3(LTA4H):c.220T>C (p.Tyr74His)	LTA4H (Y74H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3292188	NM_000895.3(LTA4H):c.80G>A (p.Ser27Asn)	LOC130008489, LTA4H (S27N)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 120094	NM_001256643.1(LTA4H):c.88-6908C>T	LTA4H	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 1807664	GRCh37/hg19 12q23.1(chr12:96279628-96608563)x3	AMDHD1, CCDC38 +3 more	Copy number gain	not provided	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
Select item 221492	GRCh37/hg19 12q23.1(chr12:96422898-98921728)x3	NEDD1, RMST +5 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 39