ClinVar for Gene (Select 3270) - ClinVar

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Links from Gene

Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3284774	NM_002152.3(HRC):c.2078T>C (p.Met693Thr)	HRC (M693T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284773	NM_002152.3(HRC):c.1695C>A (p.Asp565Glu)	HRC (D565E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284772	NM_002152.3(HRC):c.1533T>G (p.His511Gln)	HRC (H511Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284771	NM_002152.3(HRC):c.1094G>T (p.Gly365Val)	HRC (G365V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3284770	NM_002152.3(HRC):c.76A>T (p.Met26Leu)	HRC (M26L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106932	NM_002152.3(HRC):c.548G>A (p.Arg183Gln)	HRC (R183Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106931	NM_002152.3(HRC):c.472C>T (p.His158Tyr)	HRC (H158Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106930	NM_002152.3(HRC):c.295T>C (p.Tyr99His)	HRC (Y99H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106929	NM_002152.3(HRC):c.1819G>A (p.Gly607Ser)	HRC (G607S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106928	NM_002152.3(HRC):c.1567G>A (p.Glu523Lys)	HRC (E523K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106927	NM_002152.3(HRC):c.1540C>G (p.Arg514Gly)	HRC (R514G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106926	NM_002152.3(HRC):c.1006C>T (p.His336Tyr)	HRC (H336Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 2650237	NM_002152.3(HRC):c.291G>A (p.Lys97=)	HRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650236	NM_002152.3(HRC):c.351T>C (p.Gly117=)	HRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650235	NM_002152.3(HRC):c.684A>C (p.Ser228=)	HRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650234	NM_002152.3(HRC):c.696T>C (p.His232=)	HRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2609865	NM_002152.3(HRC):c.1167C>G (p.His389Gln)	HRC (H389Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608343	NM_002152.3(HRC):c.565G>A (p.Asp189Asn)	HRC (D189N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588983	NM_002152.3(HRC):c.1082G>A (p.Arg361His)	HRC (R361H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2582780	Single allele	HRC, LOC130064904 +2 more	Deletion	PPFIA3-related disorder	GLikely pathogenic
Select item 2569032	NM_002152.3(HRC):c.374C>T (p.Ala125Val)	HRC (A125V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548035	NM_002152.3(HRC):c.442C>T (p.His148Tyr)	HRC (H148Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537311	NM_002152.3(HRC):c.487G>A (p.Glu163Lys)	HRC (E163K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533637	NM_002152.3(HRC):c.1151C>T (p.Thr384Ile)	HRC (T384I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525862	NM_002152.3(HRC):c.706C>T (p.Pro236Ser)	HRC (P236S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492602	NM_002152.3(HRC):c.1298A>T (p.Glu433Val)	HRC (E433V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487245	NM_002152.3(HRC):c.1948G>C (p.Gly650Arg)	HRC (G650R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454301	NM_002152.3(HRC):c.556G>C (p.Asp186His)	HRC (D186H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426330	NC_000019.9:g.(?_49472545)_(49714755_?)del	C19orf73, CGB1 +15 more	Deletion	Progressive familial heart block type IB	GUncertain significance
Select item 2404276	NM_002152.3(HRC):c.1986C>G (p.Cys662Trp)	HRC (C662W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399891	NM_002152.3(HRC):c.869A>G (p.His290Arg)	HRC (H290R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399668	NM_002152.3(HRC):c.1688G>A (p.Ser563Asn)	HRC (S563N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394496	NM_002152.3(HRC):c.717G>T (p.Arg239Ser)	HRC (R239S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374115	NM_002152.3(HRC):c.151G>A (p.Glu51Lys)	HRC (E51K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366360	NM_002152.3(HRC):c.1477G>A (p.Gly493Ser)	HRC (G493S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2357577	NM_002152.3(HRC):c.1420A>G (p.Arg474Gly)	HRC (R474G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345964	NM_002152.3(HRC):c.196G>A (p.Asp66Asn)	HRC (D66N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2345659	NM_002152.3(HRC):c.893G>A (p.Arg298Gln)	HRC (R298Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2324351	NM_002152.3(HRC):c.1210G>A (p.Glu404Lys)	HRC (E404K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322701	NM_002152.3(HRC):c.943G>A (p.Gly315Arg)	HRC (G315R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312293	NM_002152.3(HRC):c.1847A>G (p.Gln616Arg)	HRC (Q616R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288816	NM_002152.3(HRC):c.1481C>A (p.Ser494Tyr)	HRC (S494Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260187	NM_002152.3(HRC):c.1532A>G (p.His511Arg)	HRC (H511R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256499	NM_002152.3(HRC):c.959G>A (p.Arg320Lys)	HRC (R320K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255334	NM_002152.3(HRC):c.1874C>G (p.Ser625Cys)	HRC (S625C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244530	NM_002152.3(HRC):c.770A>G (p.Asp257Gly)	HRC (D257G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213297	NM_002152.3(HRC):c.164C>A (p.Ala55Glu)	HRC (A55E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1696724	Single allele	HRC, LOC130064904 +2 more	Duplication	not provided	GUncertain significance
Select item 1346497	NC_000019.9:g.(?_49519325)_(50366015_?)dup	ADM5, ALDH16A1 +45 more	Duplication	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 1302392	NM_002152.3(HRC):c.286T>G (p.Ser96Ala)	HRC (S96A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 972940	GRCh37/hg19 19q13.33(chr19:49640430-49703884)x3	HRC, PPFIA3 +1 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 769030	NM_002152.3(HRC):c.1807G>A (p.Glu603Lys)	HRC (E603K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 754518	NM_002152.3(HRC):c.650G>A (p.Arg217Gln)	HRC (R217Q)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 709798	NM_002152.3(HRC):c.2092G>C (p.Glu698Gln)	HRC (E698Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 686542	GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3	C19orf81, CD37 +66 more	Copy number gain	not provided	GUncertain significance
Select item 564587	GRCh37/hg19 19q13.33(chr19:49645600-49891280)x3	TRPM4, CD37 +5 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 395506	GRCh37/hg19 19q13.33(chr19:49640430-49703840)x3	HRC, PPFIA3 +1 more	Copy number gain	See cases	GLikely benign
Select item 369288	NC_000019.10:g.49154455ATC[13]	HRC, TRPM4 (D261del)	Microsatellite (inframe_deletion)	Progressive familial heart block	GLikely benign
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 35487	NM_017636.4(TRPM4):c.1294G>A (p.Ala432Thr)	HRC, TRPM4 (A432T +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 35486	NM_017636.4(TRPM4):c.1744G>A (p.Gly582Ser)	TRPM4, HRC (G582S +4 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity

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Links from Gene

Items: 69