ClinVar for Gene (Select 7556) - ClinVar

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

Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3193869	NM_015394.5(ZNF10):c.772G>A (p.Gly258Ser)	LOC126861702, ZNF10 (G258S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193868	NM_015394.5(ZNF10):c.279C>G (p.Ile93Met)	LOC126861702, ZNF10 (I93M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193867	NM_015394.5(ZNF10):c.1676A>G (p.Asn559Ser)	ZNF10 (N559S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193866	NM_015394.5(ZNF10):c.1483G>C (p.Gly495Arg)	ZNF10 (G495R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193865	NM_015394.5(ZNF10):c.1409T>C (p.Phe470Ser)	ZNF10 (F470S)	Single nucleotide variant (missense variant)	not specified	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 2608760	NM_015394.5(ZNF10):c.1300G>C (p.Glu434Gln)	ZNF10 (E434Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554500	NM_015394.5(ZNF10):c.503A>C (p.Lys168Thr)	LOC126861702, ZNF10 (K168T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552776	NM_015394.5(ZNF10):c.405G>T (p.Gln135His)	LOC126861702, ZNF10 (Q135H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550189	NM_015394.5(ZNF10):c.1337C>G (p.Ser446Cys)	ZNF10 (S446C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525727	NM_015394.5(ZNF10):c.1603C>T (p.His535Tyr)	ZNF10 (H535Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523881	NM_015394.5(ZNF10):c.739C>T (p.Leu247Phe)	LOC126861702, ZNF10 (L247F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488248	NM_015394.5(ZNF10):c.632A>G (p.Asn211Ser)	LOC126861702, ZNF10 (N211S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479343	NM_015394.5(ZNF10):c.875C>T (p.Pro292Leu)	LOC126861702, ZNF10 (P292L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478114	NM_015394.5(ZNF10):c.183T>A (p.Asp61Glu)	ZNF10 (D61E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411466	NM_015394.5(ZNF10):c.526C>T (p.Pro176Ser)	LOC126861702, ZNF10 (P176S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410023	NM_015394.5(ZNF10):c.1513A>G (p.Ile505Val)	ZNF10 (I505V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369721	NM_015394.5(ZNF10):c.563G>A (p.Arg188His)	LOC126861702, ZNF10 (R188H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2288396	NM_015394.5(ZNF10):c.488T>A (p.Val163Asp)	LOC126861702, ZNF10 (V163D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256901	NM_015394.5(ZNF10):c.725A>G (p.Asp242Gly)	LOC126861702, ZNF10 (D242G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237453	NM_015394.5(ZNF10):c.1658C>T (p.Ala553Val)	ZNF10 (A553V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2232720	NM_015394.5(ZNF10):c.798A>T (p.Glu266Asp)	LOC126861702, ZNF10 (E266D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230928	NM_015394.5(ZNF10):c.1205T>A (p.Val402Glu)	ZNF10 (V402E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208620	NM_015394.5(ZNF10):c.1535T>C (p.Val512Ala)	ZNF10 (V512A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1340959	GRCh37/hg19 12q24.33(chr12:133520357-133777902)x1	ZNF10, ZNF140 +5 more	Copy number loss	not provided	GLikely benign
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 688011	GRCh37/hg19 12q24.32-24.33(chr12:126470636-133777902)x1	ADGRD1, ANKLE2 +32 more	Copy number loss	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 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)	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 393976	GRCh37/hg19 12q24.33(chr12:133727565-133772989)x3	ZNF10, ZNF268	Copy number gain	See cases	GBenign
Select item 393877	GRCh37/hg19 12q24.33(chr12:133683528-133772989)x3	ZNF10, ZNF140 +2 more	Copy number gain	See cases	GLikely benign
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 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	TRD-GTC2-10, TRD-GTC2-9 +906 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 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 148236	GRCh38/hg38 12q24.33(chr12:132966304-133202490)x1	LOC126861702, LOC129390595 +18 more	Copy number loss	See cases	GLikely benign
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 145820	GRCh38/hg38 12q24.33(chr12:133102300-133182263)x3	LOC126861702, LOC130009287 +9 more	Copy number gain	See cases	GLikely benign
Select item 145016	GRCh38/hg38 12q24.33(chr12:133136361-133202431)x3	LOC126861702, LOC132090064 +2 more	Copy number gain	See cases	GBenign
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 59847	GRCh38/hg38 12q24.32-24.33(chr12:126403612-133166920)x3	ADGRD1, ADGRD1-AS1 +266 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	AACS, ABCB9 +892 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 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	HNF1A, HNF1A-AS1 +786 more	Copy number gain	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: 51