2485[HGNC] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154432	GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	ABTB2, ANO3 +283 more	Copy number loss	See cases	GPathogenic
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 145969	GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1	LOC129390275, LOC129390276 +255 more	Copy number loss	See cases	GPathogenic
Select item 1184314	NC_000011.10:g.32963226_33107103dup	CSTF3, DEPDC7 +10 more	Duplication	not provided	GUncertain significance
Select item 147329	GRCh38/hg38 11p13(chr11:32986646-33573778)x3	CSTF3, CSTF3-DT +26 more	Copy number gain	See cases	GUncertain significance
Select item 56995	GRCh38/hg38 11p13(chr11:33031527-33620145)x3	CSTF3, CSTF3-DT +22 more	Copy number gain	See cases	GUncertain significance
Select item 2483732	NM_001326.3(CSTF3):c.2098G>A (p.Val700Ile)	CSTF3 (V700I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078464	NM_001326.3(CSTF3):c.2050G>A (p.Val684Ile)	CSTF3 (V684I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491109	NM_001326.3(CSTF3):c.2018C>T (p.Pro673Leu)	CSTF3 (P673L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469013	NM_001326.3(CSTF3):c.1931G>A (p.Arg644Gln)	CSTF3 (R644Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267559	NM_001326.3(CSTF3):c.1883G>A (p.Cys628Tyr)	CSTF3 (C628Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078463	NM_001326.3(CSTF3):c.1759C>G (p.Gln587Glu)	CSTF3 (Q587E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360462	NM_001326.3(CSTF3):c.1699A>G (p.Ile567Val)	CSTF3 (I567V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078462	NM_001326.3(CSTF3):c.1685T>C (p.Val562Ala)	CSTF3 (V562A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534944	NM_001326.3(CSTF3):c.1652G>C (p.Arg551Pro)	CSTF3 (R551P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277256	NM_001326.3(CSTF3):c.1502T>G (p.Ile501Arg)	CSTF3 (I501R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339874	NM_001326.3(CSTF3):c.1316A>C (p.Lys439Thr)	CSTF3 (K439T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557368	NM_001326.3(CSTF3):c.1241C>G (p.Thr414Ser)	CSTF3 (T414S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078465	NM_001326.3(CSTF3):c.277A>T (p.Met93Leu)	CSTF3 (M93L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260792	NM_001326.3(CSTF3):c.176C>T (p.Ala59Val)	CSTF3 (A59V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215427	NM_001326.3(CSTF3):c.151C>T (p.Arg51Trp)	CSTF3 (R51W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063213	GRCh37/hg19 11p13(chr11:32963206-33652440)x1	CSTF3, DEPDC7 +5 more	Copy number loss	not specified	GUncertain significance
Select item 1807696	GRCh37/hg19 11p13-12(chr11:31372721-38259316)x1	ABTB2, APIP +40 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527635	GRCh37/hg19 11p13-12(chr11:32782607-36404823)	ABTB2, APIP +26 more	Copy number gain	not specified	GUncertain significance
Select item 1340572	GRCh37/hg19 11p13(chr11:33050614-33532548)x3	CSTF3, DEPDC7 +3 more	Copy number gain	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 979924	GRCh37/hg19 11p13(chr11:32975924-33678760)x3	CSTF3, KIAA1549L +5 more	Copy number gain	not provided	GUncertain significance
Select item 815424	GRCh37/hg19 11p13(chr11:33143346-33573361)x1	KIAA1549L, CSTF3 +1 more	Copy number loss	not provided	GUncertain significance
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 688898	GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1	ABTB2, ANO3 +55 more	Copy number loss	not provided	GPathogenic
Select item 563875	GRCh37/hg19 11p14.1-13(chr11:29883001-33865721)x1	ARL14EP, C11orf91 +23 more	Copy number loss	not provided	GPathogenic
Select item 563870	GRCh37/hg19 11p13(chr11:32573618-34130228)x1	LMO2, NAT10 +14 more	Copy number loss	not provided	GUncertain significance
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 441893	GRCh37/hg19 11p14.3-13(chr11:25771208-35614978)x1	ABTB2, ANO3 +48 more	Copy number loss	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 441612	GRCh37/hg19 11p14.1-12(chr11:27588560-41770792)x1	ABTB2, APIP +50 more	Copy number loss	See cases	GPathogenic
Select item 395557	GRCh37/hg19 11p13(chr11:33038111-33498352)x3	CSTF3, DEPDC7 +3 more	Copy number gain	See cases	GUncertain significance
Select item 395339	GRCh37/hg19 11p13(chr11:31210842-35436121)x1	ABTB2, APIP +30 more	Copy number loss	See cases	GPathogenic
Select item 394748	GRCh37/hg19 11p13(chr11:33049228-33249368)x3	CSTF3, DEPDC7 +2 more	Copy number gain	See cases	GUncertain significance
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 253513	GRCh37/hg19 11p14.1-12(chr11:30615127-40606139)x1	ABTB2, APIP +41 more	Copy number loss	See cases	GPathogenic

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Items: 44