CSTF2T[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 144977	GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3	FAM170B, FAM170B-AS1 +306 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 148667	GRCh38/hg38 10q11.23-21.1(chr10:50967523-53709183)x1	CSTF2T, DKK1 +18 more	Copy number loss	See cases	GUncertain significance
Select item 2544950	NM_015235.3(CSTF2T):c.1822C>A (p.Gln608Lys)	CSTF2T, PRKG1 (Q608K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078453	NM_015235.3(CSTF2T):c.1779G>T (p.Met593Ile)	CSTF2T, PRKG1 (M593I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078452	NM_015235.3(CSTF2T):c.1721A>G (p.Gln574Arg)	CSTF2T, PRKG1 (Q574R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078451	NM_015235.3(CSTF2T):c.1717G>C (p.Asp573His)	CSTF2T, PRKG1 (D573H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078449	NM_015235.3(CSTF2T):c.1716G>C (p.Gln572His)	CSTF2T, PRKG1 (Q572H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516537	NM_015235.3(CSTF2T):c.1714C>G (p.Gln572Glu)	CSTF2T, PRKG1 (Q572E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558123	NM_015235.3(CSTF2T):c.1648G>C (p.Gly550Arg)	CSTF2T, PRKG1 (G550R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078448	NM_015235.3(CSTF2T):c.1640G>T (p.Gly547Val)	CSTF2T, PRKG1 (G547V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078447	NM_015235.3(CSTF2T):c.1624G>A (p.Gly542Ser)	CSTF2T, PRKG1 (G542S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078446	NM_015235.3(CSTF2T):c.1622G>T (p.Gly541Val)	CSTF2T, PRKG1 (G541V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2294403	NM_015235.3(CSTF2T):c.1574G>C (p.Gly525Ala)	CSTF2T, PRKG1 (G525A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482671	NM_015235.3(CSTF2T):c.1528G>C (p.Gly510Arg)	CSTF2T, PRKG1 (G510R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209541	NM_015235.3(CSTF2T):c.1520G>T (p.Gly507Val)	CSTF2T, PRKG1 (G507V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295845	NM_015235.3(CSTF2T):c.1474C>T (p.Pro492Ser)	CSTF2T, PRKG1 (P492S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078445	NM_015235.3(CSTF2T):c.1457G>A (p.Gly486Asp)	CSTF2T, PRKG1 (G486D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280909	NM_015235.3(CSTF2T):c.1393C>G (p.Pro465Ala)	CSTF2T, PRKG1 (P465A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078444	NM_015235.3(CSTF2T):c.1343T>G (p.Met448Arg)	CSTF2T, PRKG1 (M448R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078443	NM_015235.3(CSTF2T):c.1322G>C (p.Cys441Ser)	CSTF2T, PRKG1 (C441S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078442	NM_015235.3(CSTF2T):c.1291C>T (p.Arg431Cys)	CSTF2T, PRKG1 (R431C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376012	NM_015235.3(CSTF2T):c.1250C>T (p.Ala417Val)	CSTF2T, PRKG1 (A417V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330421	NM_015235.3(CSTF2T):c.1243T>C (p.Ser415Pro)	CSTF2T, PRKG1 (S415P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550746	NM_015235.3(CSTF2T):c.1237A>G (p.Arg413Gly)	CSTF2T, PRKG1 (R413G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489314	NM_015235.3(CSTF2T):c.1234G>A (p.Gly412Ser)	CSTF2T, PRKG1 (G412S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3078441	NM_015235.3(CSTF2T):c.1123C>T (p.Pro375Ser)	CSTF2T, PRKG1 (P375S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611076	NM_015235.3(CSTF2T):c.1117C>A (p.Arg373Ser)	CSTF2T, PRKG1 (R373S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269976	NM_015235.3(CSTF2T):c.1036A>C (p.Thr346Pro)	CSTF2T, PRKG1 (T346P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300316	NM_015235.3(CSTF2T):c.977C>T (p.Pro326Leu)	CSTF2T, PRKG1 (P326L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078460	NM_015235.3(CSTF2T):c.940A>G (p.Ile314Val)	CSTF2T, PRKG1 (I314V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394939	NM_015235.3(CSTF2T):c.904C>T (p.Arg302Trp)	CSTF2T, PRKG1 (R302W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269972	NM_015235.3(CSTF2T):c.889C>T (p.Pro297Ser)	CSTF2T, PRKG1 (P297S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078459	NM_015235.3(CSTF2T):c.844C>T (p.Pro282Ser)	CSTF2T, PRKG1 (P282S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471779	NM_015235.3(CSTF2T):c.842C>G (p.Thr281Ser)	CSTF2T, PRKG1 (T281S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368871	NM_015235.3(CSTF2T):c.842C>T (p.Thr281Ile)	CSTF2T, PRKG1 (T281I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535779	NM_015235.3(CSTF2T):c.805C>T (p.Pro269Ser)	CSTF2T, PRKG1 (P269S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532723	NM_015235.3(CSTF2T):c.742A>G (p.Lys248Glu)	CSTF2T, PRKG1 (K248E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 776511	NM_015235.3(CSTF2T):c.720_722del (p.Gln240del)	CSTF2T, PRKG1 (Q240del)	Deletion (inframe_deletion +1 more)	not provided	GLikely benign
Select item 2285501	NM_015235.3(CSTF2T):c.689A>T (p.Asn230Ile)	CSTF2T, PRKG1 (N230I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269970	NM_015235.3(CSTF2T):c.682C>A (p.Leu228Met)	CSTF2T, PRKG1 (L228M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269971	NM_015235.3(CSTF2T):c.649C>T (p.Pro217Ser)	CSTF2T, PRKG1 (P217S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2640470	NM_006258.4(PRKG1):c.593-105681C>T	CSTF2T, PRKG1 (G216S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3078458	NM_015235.3(CSTF2T):c.595C>T (p.Pro199Ser)	CSTF2T, PRKG1 (P199S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269973	NM_015235.3(CSTF2T):c.529G>A (p.Val177Ile)	CSTF2T, PRKG1 (V177I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078457	NM_015235.3(CSTF2T):c.434A>G (p.Lys145Arg)	CSTF2T, PRKG1 (K145R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078456	NM_015235.3(CSTF2T):c.425A>C (p.Glu142Ala)	CSTF2T, PRKG1 (E142A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397790	NM_015235.3(CSTF2T):c.417G>C (p.Gln139His)	CSTF2T, PRKG1 (Q139H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269974	NM_015235.3(CSTF2T):c.376G>A (p.Glu126Lys)	CSTF2T, PRKG1 (E126K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078455	NM_015235.3(CSTF2T):c.365A>G (p.Glu122Gly)	CSTF2T, PRKG1 (E122G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269975	NM_015235.3(CSTF2T):c.341C>T (p.Pro114Leu)	CSTF2T, PRKG1 (P114L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078454	NM_015235.3(CSTF2T):c.242A>C (p.Glu81Ala)	CSTF2T, LOC130003835 +1 more (E81A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685376	GRCh37/hg19 10q21.1(chr10:53289428-53507319)x1	CSTF2T, PRKG1	Copy number loss	not provided	GUncertain significance
Select item 2685375	GRCh37/hg19 10q11.23-22.1(chr10:51735638-70791246)x1	A1CF, ADO +51 more	Copy number loss	not provided	GPathogenic
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2425547	NC_000010.10:g.(?_53227463)_(53769653_?)dup	CSTF2T, PRKG1	Duplication	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 1527585	GRCh37/hg19 10q21.1(chr10:53134455-53811118)	CSTF2T, PRKG1	Copy number gain	not specified	GUncertain significance
Select item 1527584	GRCh37/hg19 10q11.23-21.1(chr10:52752503-57406199)	CSTF2T, DKK1 +4 more	Copy number gain	not specified	GUncertain significance
Select item 815345	GRCh37/hg19 10q21.1(chr10:53144955-53811118)x3	PRKG1, CSTF2T	Copy number gain	not provided	GUncertain significance
Select item 815342	GRCh37/hg19 10q11.23-21.3(chr10:50250603-69256083)x1	TIMM23, C10orf71 +50 more	Copy number loss	not provided	GPathogenic
Select item 624468	GRCh37/hg19 10q11.22-21.1(chr10:49390457-60061643)x1	MSMB, MTRNR2L5 +33 more	Copy number loss	not provided	GLikely pathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 495230	NC_000010.10:g.43611191_61663279inv	CCDC6, ZNF32 +75 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic

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Items: 70