Related gene-specific medical variations for Gene (Select 5592) - ClinVar

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Links from Gene

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361295	NM_006258.4(PRKG1):c.1856G>C (p.Gly619Ala)	PRKG1 (G216A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360526	NM_006258.4(PRKG1):c.935+2T>C	PRKG1	Single nucleotide variant (stop lost +1 more)	not provided	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 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 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 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 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 1801411	NM_006258.4(PRKG1):c.592+85868_592+85928del	PRKG1	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 1339783	GRCh37/hg19 10q11.23(chr10:52834351-52834661)x3	PRKG1	Copy number gain	Familial thoracic aortic aneurysm and aortic dissection	Gnot provided
Select item 1232610	NR_030336.1(MIR605):n.74T>C	MIR605, PRKG1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 972981	GRCh37/hg19 10q11.23-21.1(chr10:52833082-52913349)x3	PRKG1	Copy number gain	Familial thoracic aortic aneurysm and aortic dissection	Gnot provided
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 618845	NM_006258.4(PRKG1):c.259G>A (p.Asp87Asn)	PRKG1 (D87N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 395329	GRCh37/hg19 10q21.1(chr10:53321554-53420982)x1	PRKG1	Copy number loss	See cases	GLikely benign
Select item 157166	NM_006258.4(PRKG1):c.479-19849_479-16034del	PRKG1	Deletion (intron variant)	Gestational diabetes mellitus uncontrolled	Gnot provided

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Links from Gene

Items: 58