CSAD[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	ACVRL1, ANKRD33 +206 more	Copy number loss	See cases	GPathogenic
Select item 148968	GRCh38/hg38 12q13.13(chr12:52851850-53558824)x3	AAAS, AMHR2 +85 more	Copy number gain	See cases	GLikely pathogenic
Select item 59017	GRCh38/hg38 12q13.13(chr12:53099658-53724525)x1	AAAS, AMHR2 +74 more	Copy number loss	See cases	GPathogenic
Select item 2594073	NM_001244705.2(CSAD):c.1463G>A (p.Arg488Gln)	CSAD (R515Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256126	NM_001244705.2(CSAD):c.1447C>T (p.Leu483Phe)	CSAD (L250F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382058	NM_001244705.2(CSAD):c.1444C>T (p.Leu482Phe)	CSAD (L509F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509440	NM_001244705.2(CSAD):c.1441T>A (p.Phe481Ile)	CSAD (F508I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240023	NM_001244705.2(CSAD):c.1405G>C (p.Val469Leu)	CSAD (V496L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314379	NM_001244705.2(CSAD):c.1345G>A (p.Gly449Ser)	CSAD (G476S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512090	NM_001244705.2(CSAD):c.1325A>G (p.Lys442Arg)	CSAD (K469R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385668	NM_001244705.2(CSAD):c.1319T>G (p.Val440Gly)	CSAD (V467G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299292	NM_001244705.2(CSAD):c.1306A>G (p.Lys436Glu)	CSAD (K436E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341003	NM_001244705.2(CSAD):c.1256C>G (p.Pro419Arg)	CSAD (P446R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077946	NM_001244705.2(CSAD):c.1255C>G (p.Pro419Ala)	CSAD (P186A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276505	NM_001244705.2(CSAD):c.1255C>A (p.Pro419Thr)	CSAD (P446T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399238	NM_001244705.2(CSAD):c.1252C>T (p.Pro418Ser)	CSAD (P185S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317145	NM_001244705.2(CSAD):c.1250T>A (p.Val417Glu)	CSAD (V417E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077945	NM_001244705.2(CSAD):c.1167G>A (p.Arg389=)	CSAD	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2604867	NM_001244705.2(CSAD):c.1139G>A (p.Arg380His)	CSAD (R147H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281021	NM_001244705.2(CSAD):c.986A>G (p.His329Arg)	CSAD (H329R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225800	NM_001244705.2(CSAD):c.980G>A (p.Arg327His)	CSAD (R327H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227977	NM_001244705.2(CSAD):c.965C>T (p.Ser322Leu)	CSAD (S349L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296338	NM_001244705.2(CSAD):c.907C>A (p.Pro303Thr)	CSAD (P303T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409890	NM_001244705.2(CSAD):c.691G>A (p.Ala231Thr)	CSAD (A231T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077951	NM_001244705.2(CSAD):c.640G>C (p.Asp214His)	CSAD (D214H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778639	NM_001244705.2(CSAD):c.597G>A (p.Ala199=)	CSAD	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2400789	NM_001244705.2(CSAD):c.406C>T (p.Arg136Trp)	CSAD (R136W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280481	NM_001244705.2(CSAD):c.334A>G (p.Asn112Asp)	CSAD (N139D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778640	NM_001244705.2(CSAD):c.309C>T (p.Ala103=)	CSAD	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2317803	NM_001244705.2(CSAD):c.254G>A (p.Gly85Asp)	CSAD (G112D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643044	NM_001244705.2(CSAD):c.198A>G (p.Ser66=)	CSAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 791052	NM_001244705.2(CSAD):c.150G>A (p.Glu50=)	CSAD	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3077949	NM_001244705.2(CSAD):c.77G>C (p.Gly26Ala)	CSAD (G26A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077950	NM_001244705.2(CSAD):c.-48A>G	CSAD (S12G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2365433	NM_001244705.2(CSAD):c.-90-660A>G	CSAD (I3V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063260	GRCh37/hg19 12q13.13(chr12:53502510-54256094)x3	AAAS, AMHR2 +19 more	Copy number gain	not specified	GUncertain significance
Select item 980438	GRCh37/hg19 12q13.13(chr12:53372321-53864490)x1	PCBP2, SP7 +17 more	Copy number loss	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	AAAS, ABCD2 +212 more	Inversion	not specified	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 221489	GRCh37/hg19 12q13.13(chr12:53421635-53645669)x3	ZNF740, ITGB7 +8 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 43