ClinVar for Gene (Select 200942) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 105

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3288873	NM_173546.3(KLHDC8B):c.919C>T (p.Arg307Trp)	KLHDC8B (R307W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288872	NM_173546.3(KLHDC8B):c.619A>G (p.Ser207Gly)	KLHDC8B (S207G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246864	NC_000003.11:g.(?_48895920)_(49570632_?)del	SLC25A20, TCTA +23 more	Deletion	Carnitine acylcarnitine translocase deficiency +2 more	GPathogenic
Select item 3246860	NC_000003.11:g.(?_48895143)_(49213234_?)del	ARIH2, ARIH2OS +13 more	Deletion	Carnitine acylcarnitine translocase deficiency	GPathogenic
Select item 3115437	NM_173546.3(KLHDC8B):c.755A>T (p.Asp252Val)	KLHDC8B (D252V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115436	NM_173546.3(KLHDC8B):c.400G>A (p.Gly134Arg)	KLHDC8B (G134R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115435	NM_173546.3(KLHDC8B):c.362C>T (p.Ala121Val)	KLHDC8B (A121V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115434	NM_173546.3(KLHDC8B):c.326G>A (p.Arg109His)	KLHDC8B (R109H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115433	NM_173546.3(KLHDC8B):c.1033G>A (p.Val345Met)	KLHDC8B (V345M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115432	NM_173546.3(KLHDC8B):c.1007G>T (p.Gly336Val)	KLHDC8B (G336V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3032566	NM_173546.3(KLHDC8B):c.222G>A (p.Ala74=)	KLHDC8B	Single nucleotide variant (synonymous variant)	KLHDC8B-related disorder	GLikely benign
Select item 3009529	NM_173546.3(KLHDC8B):c.677G>A (p.Ser226Asn)	KLHDC8B (S226N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007240	NM_173546.3(KLHDC8B):c.167C>T (p.Ser56Leu)	KLHDC8B (S56L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006584	NM_173546.3(KLHDC8B):c.541+21_541+22del	KLHDC8B	Deletion (intron variant)	not provided	GLikely benign
Select item 2996796	NM_173546.3(KLHDC8B):c.465G>A (p.Trp155Ter)	KLHDC8B (W155*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2995328	NM_173546.3(KLHDC8B):c.868+20G>C	KLHDC8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985299	NM_173546.3(KLHDC8B):c.316C>T (p.Arg106Cys)	KLHDC8B (R106C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985094	NM_173546.3(KLHDC8B):c.542-2_542-1del	KLHDC8B	Deletion (splice acceptor variant)	not provided	GUncertain significance
Select item 2981376	NM_173546.3(KLHDC8B):c.661G>A (p.Glu221Lys)	KLHDC8B (E221K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979993	NM_173546.3(KLHDC8B):c.436C>T (p.Arg146Cys)	KLHDC8B (R146C)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2979114	NM_173546.3(KLHDC8B):c.171C>T (p.His57=)	KLHDC8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978324	NM_173546.3(KLHDC8B):c.940G>A (p.Ala314Thr)	KLHDC8B (A314T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975063	NM_173546.3(KLHDC8B):c.325C>T (p.Arg109Cys)	KLHDC8B (R109C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975023	NM_173546.3(KLHDC8B):c.869-18TC[3]	KLHDC8B	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2965239	NM_173546.3(KLHDC8B):c.377-15C>G	KLHDC8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963573	NM_173546.3(KLHDC8B):c.923G>A (p.Arg308His)	KLHDC8B (R308H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963453	NM_173546.3(KLHDC8B):c.767-17C>T	KLHDC8B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2960622	NM_173546.3(KLHDC8B):c.541+17T>C	KLHDC8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960377	NM_173546.3(KLHDC8B):c.519C>T (p.His173=)	KLHDC8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907660	NM_173546.3(KLHDC8B):c.989G>A (p.Arg330Gln)	KLHDC8B (R330Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2907027	NM_173546.3(KLHDC8B):c.797G>A (p.Arg266His)	KLHDC8B (R266H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2906826	NM_173546.3(KLHDC8B):c.68A>G (p.Tyr23Cys)	KLHDC8B (Y23C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889114	NM_173546.3(KLHDC8B):c.869-4G>A	KLHDC8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2882747	NM_173546.3(KLHDC8B):c.304A>T (p.Met102Leu)	KLHDC8B (M102L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879381	NM_173546.3(KLHDC8B):c.669C>T (p.Ser223=)	KLHDC8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867075	NM_173546.3(KLHDC8B):c.721C>T (p.Arg241Cys)	KLHDC8B (R241C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2846602	NM_173546.3(KLHDC8B):c.250G>T (p.Val84Leu)	KLHDC8B (V84L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2818657	NM_173546.3(KLHDC8B):c.134C>T (p.Pro45Leu)	KLHDC8B (P45L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2816409	NM_173546.3(KLHDC8B):c.379G>A (p.Gly127Ser)	KLHDC8B (G127S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2803042	NM_173546.3(KLHDC8B):c.603A>C (p.Thr201=)	KLHDC8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2800255	NM_173546.3(KLHDC8B):c.377-13C>A	KLHDC8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2789390	NM_173546.3(KLHDC8B):c.312G>A (p.Glu104=)	KLHDC8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776813	NM_173546.3(KLHDC8B):c.843C>A (p.Gly281=)	KLHDC8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2762872	NM_173546.3(KLHDC8B):c.564G>A (p.Pro188=)	KLHDC8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2756404	NM_173546.3(KLHDC8B):c.222G>T (p.Ala74=)	KLHDC8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2744343	NM_173546.3(KLHDC8B):c.766+3G>A	KLHDC8B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2738346	NM_173546.3(KLHDC8B):c.869-7C>G	KLHDC8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2723239	NM_173546.3(KLHDC8B):c.471G>A (p.Ser157=)	KLHDC8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2721997	NM_173546.3(KLHDC8B):c.200C>T (p.Thr67Ile)	KLHDC8B (T67I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2720045	NM_173546.3(KLHDC8B):c.414C>T (p.Asp138=)	KLHDC8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2719884	NM_173546.3(KLHDC8B):c.603A>G (p.Thr201=)	KLHDC8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2716472	NM_173546.3(KLHDC8B):c.916C>T (p.Arg306Trp)	KLHDC8B (R306W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2602048	NM_173546.3(KLHDC8B):c.437G>A (p.Arg146His)	KLHDC8B (R146H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2539598	NM_173546.3(KLHDC8B):c.61C>T (p.Arg21Trp)	KLHDC8B (R21W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539047	NM_173546.3(KLHDC8B):c.454C>T (p.Arg152Trp)	KLHDC8B (R152W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509134	NM_173546.3(KLHDC8B):c.169C>T (p.His57Tyr)	KLHDC8B (H57Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2494859	NM_173546.3(KLHDC8B):c.461G>A (p.Cys154Tyr)	KLHDC8B (C154Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488264	NM_173546.3(KLHDC8B):c.631C>G (p.Arg211Gly)	KLHDC8B (R211G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443158	NM_173546.3(KLHDC8B):c.722G>A (p.Arg241His)	KLHDC8B (R241H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443157	NM_173546.3(KLHDC8B):c.441G>A (p.Val147=)	KLHDC8B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2379425	NM_173546.3(KLHDC8B):c.598C>T (p.Arg200Cys)	KLHDC8B (R200C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305506	NM_173546.3(KLHDC8B):c.164C>T (p.Ala55Val)	KLHDC8B (A55V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277777	NM_173546.3(KLHDC8B):c.920G>A (p.Arg307Gln)	KLHDC8B (R307Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270823	NM_173546.3(KLHDC8B):c.599G>A (p.Arg200His)	KLHDC8B (R200H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267765	NM_173546.3(KLHDC8B):c.532T>C (p.Tyr178His)	KLHDC8B (Y178H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239534	NM_173546.3(KLHDC8B):c.470C>T (p.Ser157Leu)	KLHDC8B (S157L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2222980	NM_173546.3(KLHDC8B):c.787C>T (p.Arg263Cys)	KLHDC8B (R263C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215133	NM_173546.3(KLHDC8B):c.206G>A (p.Arg69Gln)	KLHDC8B (R69Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2180341	NM_173546.3(KLHDC8B):c.122G>A (p.Arg41Gln)	KLHDC8B (R41Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175125	NM_173546.3(KLHDC8B):c.813G>A (p.Arg271=)	KLHDC8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2174831	NM_173546.3(KLHDC8B):c.1042C>G (p.Leu348Val)	KLHDC8B (L348V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2157452	NM_173546.3(KLHDC8B):c.520G>A (p.Gly174Arg)	KLHDC8B (G174R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2146540	NM_173546.3(KLHDC8B):c.19C>T (p.Arg7Trp)	KLHDC8B (R7W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2140207	NM_173546.3(KLHDC8B):c.857T>C (p.Ile286Thr)	KLHDC8B (I286T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2128908	NM_173546.3(KLHDC8B):c.646G>A (p.Gly216Ser)	KLHDC8B (G216S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2114808	NM_173546.3(KLHDC8B):c.869-8T>C	KLHDC8B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2082585	NM_173546.3(KLHDC8B):c.486C>T (p.Pro162=)	KLHDC8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2081326	NM_173546.3(KLHDC8B):c.580G>A (p.Ala194Thr)	KLHDC8B (A194T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2079245	NM_173546.3(KLHDC8B):c.478T>G (p.Ser160Ala)	KLHDC8B (S160A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2058265	NM_173546.3(KLHDC8B):c.279G>A (p.Pro93=)	KLHDC8B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2047089	NM_173546.3(KLHDC8B):c.717C>T (p.Tyr239=)	KLHDC8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2046105	NM_173546.3(KLHDC8B):c.732T>C (p.Phe244=)	KLHDC8B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2035626	NM_173546.3(KLHDC8B):c.420C>G (p.Ala140=)	KLHDC8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2029133	NM_173546.3(KLHDC8B):c.868+19G>A	KLHDC8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2024942	NM_173546.3(KLHDC8B):c.868+9C>T	KLHDC8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2020185	NM_173546.3(KLHDC8B):c.184C>T (p.Leu62=)	KLHDC8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1985079	NM_173546.3(KLHDC8B):c.419C>T (p.Ala140Val)	KLHDC8B (A140V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1945629	NM_173546.3(KLHDC8B):c.42C>T (p.Phe14=)	KLHDC8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1938501	NM_173546.3(KLHDC8B):c.868+13G>A	KLHDC8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1925052	NM_173546.3(KLHDC8B):c.600T>A (p.Arg200=)	KLHDC8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1899378	NM_173546.3(KLHDC8B):c.377-15C>A	KLHDC8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899377	NM_173546.3(KLHDC8B):c.377-16dup	KLHDC8B	Duplication (intron variant)	not provided	GLikely benign
Select item 1527017	GRCh37/hg19 3p21.31(chr3:49060512-49678685)	AMT, BSN +17 more	Copy number gain	not specified	GUncertain significance
Select item 1336341	NM_173546.3(KLHDC8B):c.-9G>T	KLHDC8B	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 1068732	NC_000003.11:g.(?_48507870)_(50340407_?)del	AMIGO3, AMT +62 more	Deletion	Chilblain lupus 1 +2 more	GPathogenic
Select item 980510	GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1	AMIGO3, AMT +64 more	Copy number loss	not provided	GPathogenic
Select item 833037	NC_000003.12:g.(?_49121216)_(49533209_?)del	GPX1, IHO1 +11 more	Deletion	Pierson syndrome +1 more	GPathogenic
Select item 814442	GRCh37/hg19 3p21.31(chr3:48346677-49630228)x1	PRKAR2A, ATRIP +42 more	Copy number loss	not provided	GPathogenic
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic

<< First< Prev

Page of 2