51434[geneid] - ClinVar

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Items: 26

	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 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	LOC130008692, LOC130008693 +316 more	Copy number loss	See cases	GPathogenic
Select item 2283638	NM_016238.3(ANAPC7):c.1087C>T (p.Arg363Trp)	ANAPC7 (R377W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257876	NM_016238.3(ANAPC7):c.865G>A (p.Asp289Asn)	ANAPC7 (D102N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608549	NM_016238.3(ANAPC7):c.830A>G (p.Tyr277Cys)	ANAPC7 (Y210C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1334173	NM_016238.3(ANAPC7):c.409-2478_818-89del	ANAPC7, LOC130008741	Deletion (splice acceptor variant +2 more)	Ferguson-Bonni neurodevelopmental syndrome	GPathogenic
Select item 2208515	NM_016238.3(ANAPC7):c.722G>A (p.Gly241Glu)	ANAPC7 (G174E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067985	NM_016238.3(ANAPC7):c.493del (p.Cys165fs)	ANAPC7 (C165fs +2 more)	Deletion (frameshift variant +1 more)	Ferguson-Bonni neurodevelopmental syndrome	GUncertain significance
Select item 3118028	NM_016238.3(ANAPC7):c.454C>A (p.Arg152Ser)	ANAPC7 (R152S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293941	NM_016238.3(ANAPC7):c.292C>A (p.Leu98Ile)	ANAPC7 (L98I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2643288	NM_016238.3(ANAPC7):c.159_160del (p.Phe54fs)	ANAPC7 (F54fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3293935	NM_016238.3(ANAPC7):c.155C>G (p.Ser52Cys)	ANAPC7 (S66C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2442207	NM_016238.3(ANAPC7):c.137T>C (p.Leu46Ser)	ANAPC7 (L46S +1 more)	Single nucleotide variant (missense variant +1 more)	Ferguson-Bonni neurodevelopmental syndrome	GUncertain significance
Select item 2377863	NM_016238.3(ANAPC7):c.37G>T (p.Ala13Ser)	ANAPC7 (A13S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293950	NM_016238.3(ANAPC7):c.-14C>T	ANAPC7	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3118033	NM_016238.3(ANAPC7):c.-23T>A	ANAPC7	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3118023	NM_016238.3(ANAPC7):c.-56T>A	ANAPC7	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3293925	NM_016238.3(ANAPC7):c.-57C>T	ANAPC7	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2357394	NM_016238.3(ANAPC7):c.-57C>G	ANAPC7	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2230453	NM_016238.3(ANAPC7):c.-72T>G	ANAPC7	Single nucleotide variant (5 prime UTR 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 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)	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: 26