ClinVar for Gene (Select 2620) - ClinVar

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Links from Gene

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3391910	GRCh37/hg19 11p14.3-12(chr11:22428384-37196643)x1	ABTB2, ANO3 +62 more	Copy number loss	not provided	GPathogenic
Select item 3391909	GRCh37/hg19 11p15.1-12(chr11:17120358-41424289)x1	ABCC8, ABTB2 +105 more	Copy number loss	not provided	GPathogenic
Select item 3383945	NM_001143830.3(GAS2):c.533C>T (p.Thr178Ile)	GAS2 (T178I)	Single nucleotide variant (missense variant +1 more)	Hearing loss, autosomal recessive 125	GLikely pathogenic
Select item 3280781	NM_001143830.3(GAS2):c.228G>T (p.Glu76Asp)	GAS2 (E76D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3280780	NM_001143830.3(GAS2):c.46T>A (p.Ser16Thr)	GAS2 (S16T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3250374	NM_001143830.3(GAS2):c.723+1G>A	GAS2	Single nucleotide variant (splice donor variant)	Hearing loss, autosomal recessive 125	GPathogenic
Select item 3098612	NM_001143830.3(GAS2):c.847C>T (p.Pro283Ser)	GAS2 (P301S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3098611	NM_001143830.3(GAS2):c.560C>G (p.Ser187Cys)	GAS2 (S187C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098610	NM_001143830.3(GAS2):c.53T>C (p.Met18Thr)	GAS2 (M18T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098609	NM_001143830.3(GAS2):c.160G>A (p.Ala54Thr)	GAS2 (A54T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063187	GRCh37/hg19 11p14.3(chr11:22207494-22985845)x1	ANO5, CCDC179 +4 more	Copy number loss	not specified	GUncertain significance
Select item 2608777	NM_001143830.3(GAS2):c.655A>T (p.Asn219Tyr)	GAS2 (N219Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553677	NM_001143830.3(GAS2):c.245T>A (p.Met82Lys)	GAS2 (M82K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521650	NM_001143830.3(GAS2):c.311C>T (p.Ser104Leu)	GAS2 (S104L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511426	NM_001143830.3(GAS2):c.487C>A (p.Pro163Thr)	GAS2 (P163T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376701	NM_001143830.3(GAS2):c.880A>G (p.Met294Val)	GAS2 (M294V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2372621	NM_001143830.3(GAS2):c.869C>G (p.Thr290Ser)	GAS2 (T308S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2340581	NM_001143830.3(GAS2):c.916T>G (p.Tyr306Asp)	GAS2 (Y324D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2234796	NM_001143830.3(GAS2):c.574T>C (p.Ser192Pro)	GAS2 (S192P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809271	GRCh37/hg19 11p14.3(chr11:22501365-22701807)x3	FANCF, GAS2	Copy number gain	not provided	GUncertain significance
Select item 1808250	GRCh37/hg19 11p14.3(chr11:22582555-23040011)x3	CCDC179, FANCF +2 more	Copy number gain	not provided	GUncertain significance
Select item 1711091	GRCh37/hg19 11p14.3(chr11:22678758-23584615)x1	CCDC179, GAS2 +1 more	Copy number loss	See cases	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 1527632	GRCh37/hg19 11p14.3(chr11:22469479-22724326)	GAS2, FANCF	Copy number gain	not specified	GUncertain significance
Select item 1340328	GRCh37/hg19 11p14.3(chr11:22711002-22981254)x3	CCDC179, GAS2 +1 more	Copy number gain	not provided	GLikely benign
Select item 1262605	NC_000011.10:g.22626136_22626140dup	FANCF, GAS2	Duplication	not provided	GBenign
Select item 1240788	NC_000011.10:g.22626004A>G	FANCF, GAS2	Single nucleotide variant	not provided	GBenign
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 980400	GRCh37/hg19 11p14.3(chr11:22501364-22701957)x3	FANCF, GAS2	Copy number gain	not provided	GUncertain significance
Select item 815418	GRCh37/hg19 11p14.3(chr11:22290214-23743998)x3	ANO5, CCDC179 +4 more	Copy number gain	not provided	GUncertain significance
Select item 815417	GRCh37/hg19 11p14.3(chr11:22240672-22739036)x1	ANO5, FANCF +2 more	Copy number loss	not provided	GUncertain significance
Select item 815411	GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3	LDHA, SLC5A12 +67 more	Copy number gain	not provided	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	DKK3, DNAJC24 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 780952	NM_001143830.3(GAS2):c.477T>C (p.Tyr159=)	GAS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 688898	GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1	ABTB2, ANO3 +55 more	Copy number loss	not provided	GPathogenic
Select item 687510	GRCh37/hg19 11p14.3(chr11:22668315-23047939)x1	CCDC179, GAS2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 687472	GRCh37/hg19 11p14.3(chr11:22024933-22717219)x1	ANO5, FANCF +2 more	Copy number loss	not provided	GUncertain significance
Select item 687471	GRCh37/hg19 11p14.3(chr11:22024933-22717219)x1	ANO5, FANCF +2 more	Copy number loss	not provided	GUncertain significance
Select item 686827	GRCh37/hg19 11p15.1-14.3(chr11:21370750-23441691)x4	ANO5, CCDC179 +5 more	Copy number gain	not provided	GUncertain significance
Select item 685359	GRCh37/hg19 11p14.3(chr11:22619798-23441691)x1	CCDC179, FANCF +2 more	Copy number loss	not provided	GPathogenic
Select item 560110	Single allele	ANO5, FANCF +11 more	Deletion	not provided	GUncertain significance
Select item 493563	GRCh37/hg19 11p14.3(chr11:22026376-23809369)x3	FANCF, GAS2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 376759	GRCh37/hg19 11p15.1-13(chr11:21586131-33168232)x1	KCNA4, KIF18A +39 more	Copy number loss	Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome	GPathogenic
Select item 376757	GRCh37/hg19 11p15.1-13(chr11:18536224-31923308)x1	DCDC1, DNAJC24 +44 more	Copy number loss	Aniridia 1	GPathogenic
Select item 221478	GRCh37/hg19 11p14.3(chr11:22646794-22851268)x3	FANCF, GAS2 +1 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 154432	GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	ABTB2, ANO3 +283 more	Copy number loss	See cases	GPathogenic
Select item 152043	GRCh38/hg38 11p14.3(chr11:22195749-22953436)x1	ANO5, CCDC179 +21 more	Copy number loss	See cases	GUncertain significance
Select item 148783	GRCh38/hg38 11p15.1-14.2(chr11:21838014-26738627)x3	LOC126861164, LOC126861165 +49 more	Copy number gain	See cases	GUncertain significance
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 58857	GRCh38/hg38 11p14.3(chr11:22115602-25375696)x1	ANO5, CCDC179 +38 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 56