ClinVar for Gene (Select 23283) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2640470	NM_006258.4(PRKG1):c.593-105681C>T	CSTF2T, PRKG1 (G216S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 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 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 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 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 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 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 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 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 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 2425547	NC_000010.10:g.(?_53227463)_(53769653_?)dup	CSTF2T, PRKG1	Duplication	Aortic aneurysm, familial thoracic 8	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 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 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 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 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 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 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 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 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 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 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 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 776511	NM_015235.3(CSTF2T):c.720_722del (p.Gln240del)	CSTF2T, PRKG1 (Q240del)	Deletion (inframe_deletion +1 more)	not provided	GLikely benign
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
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 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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 70