CLVS2[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 58442	GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1	LOC129389639, LOC129389640 +254 more	Copy number loss	See cases	GPathogenic
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 148658	GRCh38/hg38 6q22.1-22.32(chr6:117607147-126699980)x3	LOC129997072, LOC129997073 +147 more	Copy number gain	See cases	GPathogenic
Select item 58443	GRCh38/hg38 6q22.31(chr6:118975015-125713307)x1	CLVS2, FABP7 +91 more	Copy number loss	See cases	GPathogenic
Select item 148091	GRCh38/hg38 6q22.31-22.32(chr6:121829616-126154472)x1	CLVS2, FABP7 +75 more	Copy number loss	See cases	GUncertain significance
Select item 2539418	NM_001010852.4(CLVS2):c.26C>G (p.Ser9Cys)	CLVS2 (S9C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335435	NM_001010852.4(CLVS2):c.142C>T (p.Arg48Cys)	CLVS2 (R48C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234841	NM_001010852.4(CLVS2):c.253A>C (p.Met85Leu)	CLVS2 (M85L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146176	NM_001010852.4(CLVS2):c.416C>G (p.Ala139Gly)	CLVS2 (A139G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392292	NM_001010852.4(CLVS2):c.507C>G (p.Phe169Leu)	CLVS2 (F169L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146177	NM_001010852.4(CLVS2):c.538C>A (p.Leu180Met)	CLVS2 (L180M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656896	NM_001010852.4(CLVS2):c.579G>A (p.Ala193=)	CLVS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3146178	NM_001010852.4(CLVS2):c.634A>T (p.Thr212Ser)	CLVS2 (T212S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318833	NM_001010852.4(CLVS2):c.643C>T (p.Arg215Trp)	CLVS2 (R215W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207760	NM_001010852.4(CLVS2):c.721C>A (p.His241Asn)	CLVS2 (H241N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387580	NM_001010852.4(CLVS2):c.848T>C (p.Met283Thr)	CLVS2 (M283T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466127	NM_001010852.4(CLVS2):c.862G>A (p.Val288Ile)	CLVS2 (V288I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368540	NM_001010852.4(CLVS2):c.947A>G (p.Glu316Gly)	CLVS2 (E316G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242312	GRCh37/hg19 6q21-22.31(chr6:109324789-124836619)x1	AK9, AMD1 +70 more	Copy number loss	not provided	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 3062896	GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	AKAP7, AMD1 +87 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685213	GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1	AHI1, AKAP7 +69 more	Copy number loss	not provided	GPathogenic
Select item 2574685	GRCh37/hg19 6q21-22.31(chr6:112713854-124105184)	ASF1A, CALHM4 +39 more	Copy number loss	6q terminal deletion syndrome	GLikely pathogenic
Select item 1810324	GRCh37/hg19 6q22.31(chr6:119243634-126078530)x1	CLVS2, FABP7 +16 more	Copy number loss	not provided	Gnot provided
Select item 1808541	GRCh37/hg19 6q22.31(chr6:121646369-124675332)x3	CLVS2, FABP7 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1808088	GRCh37/hg19 6q22.31-22.33(chr6:120059951-130033233)x1	ARHGAP18, C6orf58 +27 more	Copy number loss	not provided	GUncertain significance
Select item 1527284	GRCh37/hg19 6q22.31-22.33(chr6:122839432-128801386)	C6orf58, CENPW +21 more	Copy number loss	not specified	GPathogenic
Select item 1341103	GRCh37/hg19 6q22.1-22.31(chr6:117441803-123349672)x3	ASF1A, CEP85L +18 more	Copy number gain	not provided	GLikely pathogenic
Select item 978186	NC_000006.11:g.116734559_123648104del	ASF1A, CALHM4 +31 more	Deletion	Seizure +1 more	GPathogenic
Select item 814868	GRCh37/hg19 6q22.31(chr6:123172575-123397496)x1	CLVS2	Copy number loss	not provided	GUncertain significance
Select item 523159	GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1	EPB41L2, FABP7 +73 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442817	GRCh37/hg19 6q22.31-23.2(chr6:122612641-131564463)x1	AKAP7, ARHGAP18 +32 more	Copy number loss	See cases	GPathogenic
Select item 221458	GRCh37/hg19 6q22.31(chr6:123319117-123837319)x3	TRDN, CLVS2	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 39