ClinVar for Gene (Select 2868) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3282846	NM_182982.3(GRK4):c.541C>G (p.Pro181Ala)	GRK4, LOC126806949 (P149A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282844	NM_182982.3(GRK4):c.755A>T (p.Tyr252Phe)	GRK4 (Y220F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282843	NM_182982.3(GRK4):c.1107G>T (p.Trp369Cys)	GRK4 (W175C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282842	NM_182982.3(GRK4):c.854A>G (p.Asp285Gly)	GRK4 (D91G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282841	NM_182982.3(GRK4):c.1295G>A (p.Arg432Gln)	GRK4 (R238Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282840	NM_182982.3(GRK4):c.1522G>A (p.Val508Ile)	GRK4 (V314I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246741	NC_000004.11:g.(?_2357152)_(15176083_?)del	ABLIM2, ACOX3 +83 more	Deletion	not provided	GPathogenic
Select item 3246727	NC_000004.11:g.(?_1795662)_(3495228_?)del	ADD1, DOK7 +21 more	Deletion	not provided	GPathogenic
Select item 3246703	NC_000004.11:g.(?_1795662)_(3495228_?)dup	ADD1, DOK7 +21 more	Duplication	not provided	GUncertain significance
Select item 3246663	NC_000004.11:g.(?_2822345)_(3495228_?)del	ADD1, DOK7 +8 more	Deletion	Congenital myasthenic syndrome 10 +1 more	GPathogenic
Select item 3102605	NM_182982.3(GRK4):c.901G>A (p.Glu301Lys)	GRK4 (E107K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102604	NM_182982.3(GRK4):c.847G>A (p.Gly283Ser)	GRK4 (G251S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102603	NM_182982.3(GRK4):c.776C>G (p.Ala259Gly)	GRK4 (A259G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102601	NM_182982.3(GRK4):c.1538A>C (p.Gln513Pro)	GRK4 (Q319P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102600	NM_182982.3(GRK4):c.1495T>C (p.Phe499Leu)	GRK4 (F467L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102599	NM_182982.3(GRK4):c.1475T>G (p.Leu492Arg)	GRK4 (L298R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102598	NM_182982.3(GRK4):c.1382T>C (p.Met461Thr)	GRK4 (M429T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102597	NM_182982.3(GRK4):c.118A>C (p.Ser40Arg)	GRK4 (S40R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102596	NM_182982.3(GRK4):c.1066G>A (p.Glu356Lys)	GRK4 (E356K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102595	NM_182982.3(GRK4):c.1025G>C (p.Arg342Thr)	GRK4 (R148T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3102594	NM_182982.3(GRK4):c.1001C>G (p.Ala334Gly)	GRK4 (A302G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062809	GRCh37/hg19 4p16.3(chr4:68346-3122209)x1	ADD1, ATP5ME +46 more	Copy number loss	not specified	GPathogenic
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062779	GRCh37/hg19 4p16.3-16.2(chr4:68345-4611819)x1	ADD1, ADRA2C +58 more	Copy number loss	not specified	GPathogenic
Select item 3062771	GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1	ADD1, ADRA2C +82 more	Copy number loss	not specified	GPathogenic
Select item 3062770	GRCh37/hg19 4p16.3(chr4:68345-3510024)x1	ADD1, ATP5ME +51 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	MSANTD1, MSX1 +117 more	Copy number loss	not provided	GPathogenic
Select item 2685956	GRCh37/hg19 4p16.3(chr4:2841240-3197933)x3	ADD1, GRK4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2685952	GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3	ADD1, ADRA2C +79 more	Copy number gain	not provided	GPathogenic
Select item 2654592	NM_182982.3(GRK4):c.1050C>T (p.Val350=)	GRK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654591	NM_182982.3(GRK4):c.322A>C (p.Arg108=)	GRK4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2615994	NM_182982.3(GRK4):c.472C>G (p.Pro158Ala)	GRK4 (P126A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614612	NM_182982.3(GRK4):c.323G>A (p.Arg108Lys)	GRK4 (R108K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613663	NM_182982.3(GRK4):c.1219G>A (p.Glu407Lys)	GRK4 (E213K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600083	NM_182982.3(GRK4):c.408G>T (p.Glu136Asp)	GRK4 (E136D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597833	NM_182982.3(GRK4):c.644G>T (p.Cys215Phe)	GRK4, LOC129992093 (C183F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595799	NM_182982.3(GRK4):c.548C>G (p.Thr183Arg)	GRK4, LOC126806949 (T183R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588061	NM_182982.3(GRK4):c.1504C>T (p.Arg502Trp)	GRK4 (R502W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	USP17L24, USP17L25 +132 more	Copy number loss	not provided	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	RNF212, RNF4 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
Select item 2553296	NM_182982.3(GRK4):c.677G>A (p.Arg226Lys)	GRK4, LOC129992093 (R32K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552039	NM_182982.3(GRK4):c.251T>C (p.Leu84Ser)	GRK4 (L52S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509087	NM_182982.3(GRK4):c.991C>T (p.Leu331Phe)	GRK4 (L299F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424606	NC_000004.11:g.(?_493125)_(3495228_?)dup	FGFRL1, GAK +46 more	Duplication	Fibrous dysplasia of jaw	GUncertain significance
Select item 2409768	NM_182982.3(GRK4):c.452A>G (p.His151Arg)	GRK4 (H119R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405678	NM_182982.3(GRK4):c.1465G>A (p.Gly489Arg)	GRK4 (G295R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396534	NM_182982.3(GRK4):c.950A>C (p.Asn317Thr)	GRK4 (N123T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390786	NM_182982.3(GRK4):c.607G>A (p.Ala203Thr)	GRK4 (A9T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381141	NM_182982.3(GRK4):c.728A>G (p.Gln243Arg)	GRK4 (Q49R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380976	NM_182982.3(GRK4):c.241A>G (p.Ile81Val)	GRK4 (I49V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377875	NM_182982.3(GRK4):c.1262G>A (p.Cys421Tyr)	GRK4 (C227Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332345	NM_182982.3(GRK4):c.1702C>T (p.Pro568Ser)	GRK4, LOC129992097 (P490S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293236	NM_182982.3(GRK4):c.109C>A (p.Pro37Thr)	GRK4 (P37T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292881	NM_182982.3(GRK4):c.1327G>A (p.Val443Met)	GRK4 (V411M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290558	NM_182982.3(GRK4):c.544G>A (p.Val182Ile)	GRK4, LOC126806949 (V150I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286379	NM_182982.3(GRK4):c.823C>T (p.His275Tyr)	GRK4 (H243Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285537	NM_182982.3(GRK4):c.765A>C (p.Glu255Asp)	GRK4 (E223D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271112	NM_182982.3(GRK4):c.1436T>C (p.Leu479Pro)	GRK4 (L479P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251926	NM_182982.3(GRK4):c.193C>T (p.Arg65Cys)	GRK4 (R33C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225417	NM_182982.3(GRK4):c.412C>T (p.Pro138Ser)	GRK4 (P106S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808621	GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1808552	GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1808376	GRCh37/hg19 4p16.3(chr4:2906453-3225478)x3	ADD1, GRK4 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1707444	GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1	ABLIM2, ACOX3 +143 more	Copy number loss	See cases	GPathogenic
Select item 1707423	GRCh37/hg19 4p16.3-16.2(chr4:68345-5579467)x1	ADD1, ADRA2C +63 more	Copy number loss	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1421534	NC_000004.11:g.(?_493125)_(3495228_?)del	FAM53A, HGFAC +46 more	Deletion	Fibrous dysplasia of jaw	GUncertain significance
Select item 1374044	NC_000004.11:g.(?_2822345)_(3495228_?)dup	ADD1, DOK7 +8 more	Duplication	not provided	GUncertain significance
Select item 1341125	GRCh37/hg19 4p16.3(chr4:2930651-3362806)x3	ADD1, GRK4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1341071	GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1	HGFAC, UVSSA +141 more	Copy number loss	not provided	GPathogenic
Select item 1340776	GRCh37/hg19 4p16.3(chr4:2968221-3170422)x1	GRK4, HTT	Copy number loss	not provided	GUncertain significance
Select item 1180546	GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3	FGFBP2, SMIM20 +161 more	Copy number gain	not provided	GPathogenic
Select item 1180545	GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1	RGS12, RNF212 +140 more	Copy number loss	not provided	GPathogenic
Select item 1073308	NC_000004.11:g.(?_2200251)_(5710240_?)del	TMEM128, TNIP2 +28 more	Deletion	Curry-Hall syndrome +1 more	GPathogenic
Select item 1047903	GRCh37/hg19 4p16.3(chr4:388344-3872380)	HGFAC, HTT +48 more	Copy number loss	Generalized hypotonia +2 more	GPathogenic
Select item 979468	GRCh37/hg19 4p16.3-16.2(chr4:68345-5831521)x1	ZFYVE28, CRMP1 +65 more	Copy number loss	not provided	GPathogenic
Select item 979467	GRCh37/hg19 4p16.3-16.2(chr4:68345-5046326)x1	HGFAC, NOP14 +60 more	Copy number loss	not provided	GPathogenic
Select item 979457	GRCh37/hg19 4p16.3(chr4:1941633-3879802)x1	RGS12, LRPAP1 +21 more	Copy number loss	not provided	GPathogenic
Select item 977788	GRCh37/hg19 4p16.3-16.1(chr4:2909440-6871516)	PPP2R2C, RGS12 +32 more	Copy number loss	microdeletion 4p16.3p16.1	GLikely pathogenic
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 816497	GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1	ADD1, ABLIM2 +146 more	Copy number loss	See cases	GPathogenic
Select item 814524	GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1	ABLIM2, ACOX3 +114 more	Copy number loss	not provided	GPathogenic
Select item 814523	GRCh37/hg19 4p16.3-16.1(chr4:68345-6984507)x1	ADD1, ADRA2C +76 more	Copy number loss	not provided	GPathogenic
Select item 814522	GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x1	ABLIM2, ACOX3 +90 more	Copy number loss	not provided	GPathogenic
Select item 814521	GRCh37/hg19 4p16.3-16.1(chr4:68345-9768141)x1	ABLIM2, ACOX3 +111 more	Copy number loss	not provided	GPathogenic
Select item 814520	GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3	ABLIM2, ACOX3 +161 more	Copy number gain	not provided	GPathogenic
Select item 773153	NM_182982.3(GRK4):c.517C>T (p.Gln173Ter)	GRK4 (Q173* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GBenign
Select item 725874	NM_182982.3(GRK4):c.849C>T (p.Gly283=)	GRK4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 686294	GRCh37/hg19 4p16.3(chr4:68345-4051616)x3	ADD1, ADRA2C +52 more	Copy number gain	not provided	GPathogenic
Select item 686085	GRCh37/hg19 4p16.3(chr4:2906452-3200275)x3	ADD1, GRK4 +3 more	Copy number gain	not provided	GUncertain significance
Select item 685486	GRCh37/hg19 4p16.3(chr4:3035630-3515998)x3	DOK7, GRK4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 625664	GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411)	JAKMIP1, KIAA0232 +90 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 562882	GRCh37/hg19 4p16.3(chr4:2730654-3265710)x3	SH3BP2, TNIP2 +7 more	Copy number gain	not provided	GUncertain significance

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