p.R569H[varname] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2209154	NM_005839.4(SRRM1):c.1709G>A (p.Arg570His)	SRRM1 (R471H +24 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363510	NM_005839.4(SRRM1):c.2003G>A (p.Arg668His)	SRRM1 (R583H +24 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1404175	NM_022356.4(P3H1):c.1706G>A (p.Arg569His)	P3H1 (R569H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8	GUncertain significance
Select item 2254014	NM_014856.3(DENND4B):c.1673G>A (p.Arg558His)	DENND4B (R558H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184187	NM_001105669.4(TTC24):c.1706G>A (p.Arg569His)	TTC24 (R569H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3137069	NM_144575.3(CAPN13):c.1706G>A (p.Arg569His)	CAPN13 (R569H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 991297	NM_133259.4(LRPPRC):c.1706G>A (p.Arg569His)	LRPPRC (R569H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 861698	NM_001298.3(CNGA3):c.1706G>A (p.Arg569His)	CNGA3 (R569H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2554972	NM_001378.3(DYNC1I2):c.1724G>A (p.Arg575His)	DYNC1I2 (R569H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1512976	NM_006164.5(NFE2L2):c.1706G>A (p.Arg569His)	NFE2L2 (R469H +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1040048	NM_006254.4(PRKCD):c.1706G>A (p.Arg569His)	PRKCD (R585H +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 343242	NM_052989.3(IFT122):c.1553G>A (p.Arg518His)	IFT122 (R569H +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1 +2 more	GConflicting classifications of pathogenicity
Select item 2400492	NM_001063.4(TF):c.2087G>A (p.Arg696His)	TF (R696H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 854566	NM_001122681.2(SH3BP2):c.1535G>A (p.Arg512His)	SH3BP2 (R540H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3309082	NM_013261.5(PPARGC1A):c.2087G>A (p.Arg696His)	PPARGC1A (R684H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3034738	NM_001278624.2(NFXL1):c.1706G>A (p.Arg569His)	LOC101927179, NFXL1 (R569H)	Single nucleotide variant (missense variant +1 more)	NFXL1-related disorder	GBenign
Select item 1935155	NM_001098511.3(KIF2A):c.1706G>A (p.Arg569His)	KIF2A (R569H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1053456	NM_014989.7(RIMS1):c.3797G>A (p.Arg1266His)	RIMS1 (R569H +39 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2286382	NM_032438.4(L3MBTL3):c.1781G>A (p.Arg594His)	L3MBTL3 (R569H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382217	NM_004830.4(MED23):c.1706G>A (p.Arg569His)	MED23 (R484H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3090295	NM_018341.3(ERMARD):c.1706G>A (p.Arg569His)	ERMARD (R443H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 963450	NM_005228.5(EGFR):c.2507G>A (p.Arg836His)	EGFR (R569H +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 1346561	NM_021020.5(LZTS1):c.1706G>A (p.Arg569His)	LZTS1 (R569H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1778455	NM_006265.3(RAD21):c.1706G>A (p.Arg569His)	RAD21 (R569H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 950902	NM_201384.3(PLEC):c.1772G>A (p.Arg591His)	PLEC (R569H +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 3268394	NM_007018.6(CNTRL):c.3362G>A (p.Arg1121His)	CNTRL (R569H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 364819	NM_198252.3(GSN):c.1553G>A (p.Arg518His)	GSN (R569H +7 more)	Single nucleotide variant (missense variant)	Finnish type amyloidosis	GUncertain significance
Select item 6463	NM_001003722.2(GLE1):c.1706G>A (p.Arg569His)	GLE1, LOC101929270 (R569H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1681346	NM_018076.5(ODAD2):c.2630G>A (p.Arg877His)	ODAD2 (R402H +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 1202091	NM_022124.6(CDH23):c.8426G>A (p.Arg2809His)	CDH23 (R2809H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2318994	NM_004747.4(DLG5):c.1706G>A (p.Arg569His)	DLG5 (R569H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 258976	NM_001382567.1(STIM1):c.2021G>A (p.Arg674His)	LOC124418421, STIM1 (R643H +9 more)	Single nucleotide variant (missense variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 2574258	NM_207122.2(EXT2):c.1706G>A (p.Arg569His)	EXT2 (R569H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 56810	NM_001312909.2(FAM111A):c.1706G>A (p.Arg569His)	FAM111A (R569H)	Single nucleotide variant (missense variant)	Osteocraniostenosis +3 more	GPathogenic/Likely pathogenic
Select item 437878	NM_012309.5(SHANK2):c.1706G>A (p.Arg569His)	SHANK2 (R569H +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3306753	NM_001142276.2(APLP2):c.1706G>A (p.Arg569His)	APLP2 (R525H +16 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3130828	NM_018179.5(ATF7IP):c.1709G>A (p.Arg570His)	ATF7IP (R569H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193167	NM_001145108.2(NELL2):c.1706G>A (p.Arg569His)	NELL2 (R592H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2662260	NM_002465.4(MYBPC1):c.1706G>A (p.Arg569His)	MYBPC1 (R499H +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 526406	NM_020937.4(FANCM):c.1706G>A (p.Arg569His)	FANCM (R569H +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 2317136	NM_001039479.2(AREL1):c.1736G>A (p.Arg579His)	AREL1 (R569H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344473	NM_001385001.1(MCTP2):c.1988G>A (p.Arg663His)	MCTP2 (R251H +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2385753	NM_006885.4(ZFHX3):c.1706G>A (p.Arg569His)	ZFHX3 (R569H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2397256	NM_014567.5(BCAR1):c.1568G>A (p.Arg523His)	BCAR1 (R523H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151499	NM_015085.5(RAP1GAP2):c.1706G>A (p.Arg569His)	RAP1GAP2 (R569H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1024145	NM_031220.4(PITPNM3):c.1814G>A (p.Arg605His)	PITPNM3 (R569H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1362736	NM_004448.4(ERBB2):c.1796G>A (p.Arg599His)	ERBB2 (R569H +12 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3153992	NM_001005498.4(RHBDF2):c.1706G>A (p.Arg569His)	RHBDF2 (R569H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1005288	NM_001083962.2(TCF4):c.1778G>A (p.Arg593His)	TCF4 (R377H +21 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 3085585	NM_139159.5(DPP9):c.1706G>A (p.Arg569His)	DPP9 (R540H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 533831	NM_001005361.3(DNM2):c.1718G>A (p.Arg573His)	DNM2 (R573H +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2596092	NM_015122.3(FCHO1):c.1745G>A (p.Arg582His)	FCHO1 (R475H +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375579	NM_016536.5(ZNF571):c.1706G>A (p.Arg569His)	ZNF540, ZNF571 +1 more (R569H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514480	NM_001145641.2(SRRM5):c.1706G>A (p.Arg569His)	SRRM5, ZNF428 (R569H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3194141	NM_001322131.2(ZNF160):c.1814G>A (p.Arg605His)	ZNF160 (R605H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335513	NM_022095.4(ZNF335):c.1706G>A (p.Arg569His)	ZNF335 (R569H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3358517	NM_080425.4(GNAS):c.1893G>A (p.Ser631=)	GNAS (R569H)	Single nucleotide variant (missense variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 1348951	NM_015374.3(SUN2):c.1613G>A (p.Arg538His)	GTPBP1, SUN2 (R405H +9 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 9813	NM_000044.6(AR):c.1789G>A (p.Ala597Thr)	AR (A597T +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic

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Items: 59