ClinVar for Gene (Select 121549) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3130286	NM_203436.3(ASCL4):c.74G>A (p.Gly25Glu)	ASCL4 (G25E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130285	NM_203436.3(ASCL4):c.67G>C (p.Val23Leu)	ASCL4 (V23L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130284	NM_203436.3(ASCL4):c.473C>T (p.Ser158Phe)	ASCL4 (S158F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130283	NM_203436.3(ASCL4):c.458G>A (p.Gly153Glu)	ASCL4 (G153E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130282	NM_203436.3(ASCL4):c.343C>T (p.Arg115Cys)	ASCL4 (R115C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130281	NM_203436.3(ASCL4):c.239G>T (p.Arg80Leu)	ASCL4 (R80L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546987	NM_203436.3(ASCL4):c.507G>T (p.Glu169Asp)	ASCL4 (E169D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528145	NM_203436.3(ASCL4):c.36G>T (p.Leu12Phe)	ASCL4 (L12F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526045	NM_203436.3(ASCL4):c.467A>G (p.Lys156Arg)	ASCL4 (K156R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391469	NM_203436.3(ASCL4):c.151C>T (p.Arg51Cys)	ASCL4 (R51C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364484	NM_203436.3(ASCL4):c.275A>G (p.Tyr92Cys)	ASCL4 (Y92C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351101	NM_203436.3(ASCL4):c.298C>A (p.Pro100Thr)	ASCL4 (P100T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325266	NM_203436.3(ASCL4):c.190C>T (p.Pro64Ser)	ASCL4 (P64S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250573	NM_203436.3(ASCL4):c.95G>A (p.Arg32Gln)	ASCL4 (R32Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230560	NM_203436.3(ASCL4):c.457G>C (p.Gly153Arg)	ASCL4 (G153R)	Single nucleotide variant (missense variant)	not specified	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 1340640	GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1	ABTB3, ACACB +73 more	Copy number loss	not provided	GPathogenic
Select item 988907	GRCh37/hg19 12q23.3-24.11(chr12:107197584-109830564)x1	ABTB3, ACACB +23 more	Copy number loss	not provided	GUncertain significance
Select item 980454	GRCh37/hg19 12q23.3-24.12(chr12:106498814-112252906)x1	ABTB3, ACACB +60 more	Copy number loss	not provided	GPathogenic
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
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 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 149538	GRCh38/hg38 12q23.3-24.11(chr12:105644967-108994840)x1	ABTB3, ASCL4 +122 more	Copy number loss	See cases	GUncertain significance
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	LOC130008692, LOC130008693 +316 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 26