ClinVar for Gene (Select 7574) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2681661	NM_019591.4(ZNF26):c.681A>G (p.Glu227=)	ZNF26	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2530660	NM_019591.4(ZNF26):c.787T>C (p.Cys263Arg)	ZNF26 (C263R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530157	NM_019591.4(ZNF26):c.868G>A (p.Glu290Lys)	ZNF26 (E290K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475092	NM_019591.4(ZNF26):c.1222A>G (p.Ser408Gly)	ZNF26 (S388G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463272	NM_019591.4(ZNF26):c.1238T>C (p.Leu413Pro)	ZNF26 (L393P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375293	NM_019591.4(ZNF26):c.776G>C (p.Gly259Ala)	ZNF26 (G259A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338773	NM_019591.4(ZNF26):c.1436A>G (p.Glu479Gly)	ZNF26 (E447G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302123	NM_019591.4(ZNF26):c.317A>G (p.Tyr106Cys)	ZNF26 (Y106C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294769	NM_019591.4(ZNF26):c.377G>A (p.Arg126Lys)	ZNF26 (R106K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286090	NM_019591.4(ZNF26):c.983A>G (p.Tyr328Cys)	ZNF26 (Y308C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282795	NM_019591.4(ZNF26):c.1141A>G (p.Arg381Gly)	ZNF26 (R414G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278756	NM_019591.4(ZNF26):c.1081C>G (p.Gln361Glu)	ZNF26 (Q329E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267988	NM_019591.4(ZNF26):c.1581A>G (p.Ile527Met)	ZNF26 (I527M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263588	NM_019591.4(ZNF26):c.305T>C (p.Ile102Thr)	ZNF26 (I70T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260645	NM_019591.4(ZNF26):c.279G>C (p.Gln93His)	ZNF26 (Q126H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259995	NM_019591.4(ZNF26):c.488A>C (p.Lys163Thr)	ZNF26 (K143T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259276	NM_019591.4(ZNF26):c.1283G>A (p.Cys428Tyr)	ZNF26 (C396Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256686	NM_019591.4(ZNF26):c.1570G>C (p.Gly524Arg)	ZNF26 (G524R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249644	NM_019591.4(ZNF26):c.1501C>G (p.Gln501Glu)	ZNF26 (Q469E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233680	NM_019591.4(ZNF26):c.392G>A (p.Arg131His)	ZNF26 (R131H +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2230533	NM_019591.4(ZNF26):c.371G>A (p.Arg124Lys)	ZNF26 (R104K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214229	NM_019591.4(ZNF26):c.1454G>C (p.Ser485Thr)	ZNF26 (S453T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1425930	NC_000012.11:g.(?_133236030)_(133676672_?)del	ANKLE2, CHFR +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 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 982073	NM_019591.4(ZNF26):c.1515C>T (p.Thr505=)	ZNF26, ZNF84	Single nucleotide variant (synonymous variant)	not specified	GBenign
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 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 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

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Links from Gene

Items: 49