9716[HGNC] - ClinVar

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

Search results

Items: 54

	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 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 57448	GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3	AACS, ADGRD1 +412 more	Copy number gain	See cases	GPathogenic
Select item 146222	GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3	AACS, ADGRD1 +408 more	Copy number gain	See cases	GPathogenic
Select item 59847	GRCh38/hg38 12q24.32-24.33(chr12:126403612-133166920)x3	ADGRD1, ADGRD1-AS1 +266 more	Copy number gain	See cases	GPathogenic
Select item 144761	GRCh38/hg38 12q24.33(chr12:131650542-133191400)x1	ANKLE2, CHFR +122 more	Copy number loss	See cases	GPathogenic
Select item 144295	GRCh38/hg38 12q24.33(chr12:132576614-133191400)x1	ZNF84, ZNF84-DT +55 more	Copy number loss	See cases	GPathogenic
Select item 1181025	NC_000012.12:g.132687678C>T	LOC130009266, POLE +1 more (P3L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3311839	NM_018663.3(PXMP2):c.14C>T (p.Ala5Val)	LOC130009266, PXMP2 (A5V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519113	NM_018663.3(PXMP2):c.28G>T (p.Ala10Ser)	LOC130009266, PXMP2 (A10S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643655	NM_018663.3(PXMP2):c.39G>C (p.Gly13=)	LOC130009266, PXMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2324854	NM_018663.3(PXMP2):c.77T>C (p.Leu26Pro)	LOC130009266, PXMP2 (L26P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236128	NM_018663.3(PXMP2):c.98C>T (p.Pro33Leu)	LOC130009266, PXMP2 (P33L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150117	NM_018663.3(PXMP2):c.100G>A (p.Val34Met)	LOC130009266, PXMP2 (V34M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254199	NM_018663.3(PXMP2):c.172A>G (p.Lys58Glu)	PXMP2 (K58E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150118	NM_018663.3(PXMP2):c.196A>C (p.Ser66Arg)	PXMP2 (S66R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524277	NM_018663.3(PXMP2):c.235G>A (p.Gly79Arg)	PXMP2 (G79R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285200	NM_018663.3(PXMP2):c.346G>A (p.Val116Ile)	PXMP2 (V116I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150119	NM_018663.3(PXMP2):c.424G>A (p.Ala142Thr)	PXMP2 (A142T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2529205	NM_018663.3(PXMP2):c.427A>G (p.Lys143Glu)	PXMP2 (K143E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708835	NM_018663.3(PXMP2):c.440dup (p.Phe148fs)	PXMP2 (F148fs)	Duplication (frameshift variant)	not provided	GBenign
Select item 3311841	NM_018663.3(PXMP2):c.469C>T (p.Arg157Trp)	PXMP2 (R157W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350596	NM_018663.3(PXMP2):c.535G>A (p.Ala179Thr)	PXMP2 (A179T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311840	NM_018663.3(PXMP2):c.539A>G (p.Asn180Ser)	PXMP2 (N180S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150120	NM_018663.3(PXMP2):c.566A>C (p.Tyr189Ser)	PXMP2 (Y189S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244416	NC_000012.11:g.(?_133248873)_(133501664_?)del	ANKLE2, CHFR +5 more	Deletion	not provided	GPathogenic
Select item 2685459	GRCh37/hg19 12q24.33(chr12:133204042-133278203)x1	POLE, PXMP2	Copy number loss	not provided	GUncertain significance
Select item 2684689	GRCh37/hg19 12q24.33(chr12:133187938-133383618)x3	ANKLE2, GOLGA3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684685	GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3	AACS, ABCB9 +93 more	Copy number gain	not provided	GPathogenic
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic
Select item 1808265	GRCh37/hg19 12q24.33(chr12:133228857-133455925)x3	ANKLE2, CHFR +4 more	Copy number gain	not provided	GUncertain significance
Select item 1425930	NC_000012.11:g.(?_133236030)_(133676672_?)del	ZNF140, ZNF26 +8 more	Deletion	not provided	GPathogenic
Select item 1341278	GRCh37/hg19 12q24.33(chr12:133187500-133592221)x3	ANKLE2, CHFR +7 more	Copy number gain	not provided	GUncertain significance
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 981004	GRCh37/hg19 12q24.33(chr12:133155089-133455925)x3	ANKLE2, CHFR +7 more	Copy number gain	not provided	GUncertain significance
Select item 815565	GRCh37/hg19 12q24.33(chr12:133095871-133402932)x3	PGAM5, POLE +6 more	Copy number gain	not provided	GUncertain significance
Select item 688011	GRCh37/hg19 12q24.32-24.33(chr12:126470636-133777902)x1	ADGRD1, ANKLE2 +32 more	Copy number loss	not provided	GUncertain significance
Select item 687622	GRCh37/hg19 12q24.33(chr12:133152213-133280073)x3	FBRSL1, LRCOL1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 686528	GRCh37/hg19 12q24.33(chr12:133197109-133295252)x3	P2RX2, PGAM5 +2 more	Copy number gain	not provided	GUncertain significance
Select item 686464	GRCh37/hg19 12q24.33(chr12:132975658-133777902)x1	ANKLE2, CHFR +15 more	Copy number loss	not provided	GUncertain significance
Select item 638102	GRCh37/hg19 12q24.33(chr12:131363916-133777645)x3	EP400, FBRSL1 +23 more	Copy number gain	See cases	GPathogenic
Select item 625819	GRCh37/hg19 12q24.31-24.33(chr12:125451405-133810935)	AACS, ADGRD1 +37 more	Copy number gain	not provided	GPathogenic
Select item 563980	GRCh37/hg19 12q24.33(chr12:130973400-133777902)x3	ZNF10, PGAM5 +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 443093	GRCh37/hg19 12q24.33(chr12:133061680-133510071)x1	ANKLE2, CHFR +8 more	Copy number loss	See cases	GUncertain significance
Select item 442500	GRCh37/hg19 12q24.33(chr12:133046203-133777902)x3	ANKLE2, CHFR +15 more	Copy number gain	See cases	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 441587	GRCh37/hg19 12q24.33(chr12:133187937-133497679)x1	ANKLE2, CHFR +5 more	Copy number loss	See cases	GUncertain significance
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 253828	GRCh37/hg19 12q24.33(chr12:133091631-133393167)x3	LRCOL1, GOLGA3 +6 more	Copy number gain	See cases	GUncertain significance
Select item 226225	GRCh37/hg19 12q24.33(chr12:133199968-133337730)	PXMP2, PGAM5 +2 more	Copy number gain	Abnormal esophagus morphology	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 54