ClinVar for Gene (Select 3270) - ClinVar

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

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)	Progressive familial heart block type IB +5 more	GConflicting classifications of pathogenicity
Select item 35486	NM_017636.4(TRPM4):c.1744G>A (p.Gly582Ser)	HRC, TRPM4 (G582S +4 more)	Single nucleotide variant (missense variant)	Progressive familial heart block type IB +5 more	GConflicting classifications of pathogenicity

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: 69