2303[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 more	Copy number gain	See cases	GPathogenic
Select item 153493	GRCh38/hg38 4q32.1-33(chr4:155162982-170959553)x1	AADAT, ANP32C +243 more	Copy number loss	See cases	GPathogenic
Select item 147409	GRCh38/hg38 4q32.1-32.3(chr4:158387928-166845726)x3	ANP32C, APELA +130 more	Copy number gain	See cases	GPathogenic
Select item 152441	GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3	AADAT, ACSL1 +553 more	Copy number gain	See cases	GPathogenic
Select item 155028	GRCh38/hg38 4q32.2-32.3(chr4:161590861-165734658)x3	ANP32C, APELA +65 more	Copy number gain	See cases	GUncertain significance
Select item 58048	GRCh38/hg38 4q32.2-32.3(chr4:161592038-165721577)x3	MIR578, MSMO1 +64 more	Copy number gain	See cases	GPathogenic
Select item 57053	GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3	MTNR1A, NAF1 +535 more	Copy number gain	See cases	GPathogenic
Select item 59484	GRCh38/hg38 4q32.2-34.1(chr4:162723818-172501433)x1	AADAT, ANP32C +158 more	Copy number loss	See cases	GPathogenic
Select item 59505	GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1	LOC129993482, LOC129993483 +509 more	Copy number loss	See cases	GPathogenic
Select item 154254	GRCh38/hg38 4q32.3(chr4:164837643-167576305)x1	APELA, CPE +49 more	Copy number loss	See cases	GUncertain significance
Select item 151716	GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1	LOC129993424, LOC129993425 +485 more	Copy number loss	See cases	GPathogenic
Select item 2655170	NM_001873.4(CPE):c.6C>G (p.Ala2=)	CPE, LOC129993339	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2628939	NM_001873.4(CPE):c.14G>T (p.Gly5Val)	CPE, LOC129993339 (G5V)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 3356477	NM_001873.4(CPE):c.27G>T (p.Leu9=)	CPE, LOC129993339	Single nucleotide variant (synonymous variant)	CPE-related disorder	GLikely benign
Select item 3076615	NM_001873.4(CPE):c.28C>A (p.Leu10Met)	CPE, LOC129993339 (L10M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3354048	NM_001873.4(CPE):c.40G>A (p.Gly14Arg)	CPE, LOC129993339 (G14R)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 1903684	NM_001873.4(CPE):c.43G>A (p.Ala15Thr)	CPE, LOC129993339 (A15T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3350553	NM_001873.4(CPE):c.45A>G (p.Ala15=)	CPE, LOC129993339	Single nucleotide variant (synonymous variant)	CPE-related disorder	GLikely benign
Select item 3336001	NM_001873.4(CPE):c.59G>A (p.Gly20Glu)	CPE, LOC129993339 (G20E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591521	NM_001873.4(CPE):c.63G>T (p.Trp21Cys)	CPE, LOC129993339 (W21C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3030491	NM_001873.4(CPE):c.66C>A (p.Leu22=)	CPE, LOC129993339	Single nucleotide variant (synonymous variant)	CPE-related disorder	GLikely benign
Select item 689401	NM_001873.4(CPE):c.76_98del (p.Glu26fs)	CPE, LOC129993339 (E26fs)	Deletion (frameshift variant)	BDV syndrome	GPathogenic
Select item 2229893	NM_001873.4(CPE):c.77A>C (p.Glu26Ala)	CPE, LOC129993339 (E26A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2629098	NM_001873.4(CPE):c.88C>G (p.Pro30Ala)	CPE (P30A)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 3353736	NM_001873.4(CPE):c.90C>T (p.Pro30=)	CPE	Single nucleotide variant (synonymous variant)	CPE-related disorder	GLikely benign
Select item 3351219	NM_001873.4(CPE):c.96G>C (p.Ala32=)	CPE	Single nucleotide variant (synonymous variant)	CPE-related disorder	GLikely benign
Select item 3357826	NM_001873.4(CPE):c.120C>G (p.Arg40=)	CPE	Single nucleotide variant (synonymous variant)	CPE-related disorder	GLikely benign
Select item 3351870	NM_001873.4(CPE):c.122G>A (p.Arg41Gln)	CPE (R41Q)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 3351288	NM_001873.4(CPE):c.169C>A (p.Pro57Thr)	CPE (P57T)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 2742048	NM_001873.4(CPE):c.207G>A (p.Gln69=)	CPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1610581	NM_001873.4(CPE):c.215C>T (p.Ala72Val)	CPE (A72V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2634304	NM_001873.4(CPE):c.233C>A (p.Thr78Lys)	CPE (T78K)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 3032802	NM_001873.4(CPE):c.277C>T (p.Leu93=)	CPE	Single nucleotide variant (synonymous variant)	CPE-related disorder	GLikely benign
Select item 3353779	NM_001873.4(CPE):c.292G>A (p.Gly98Ser)	CPE (G98S)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 3354385	NM_001873.4(CPE):c.354T>C (p.Ala118=)	CPE	Single nucleotide variant (synonymous variant)	CPE-related disorder	GLikely benign
Select item 1209851	NM_001873.4(CPE):c.361C>T (p.Arg121Ter)	CPE (R121*)	Single nucleotide variant (nonsense)	BDV syndrome +1 more	GPathogenic
Select item 3357419	NM_001873.4(CPE):c.362G>A (p.Arg121Gln)	CPE (R121Q)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 1626832	NM_001873.4(CPE):c.381G>A (p.Leu127=)	CPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1487579	NM_001873.4(CPE):c.383C>T (p.Ala128Val)	CPE (A128V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1096917	NM_001873.4(CPE):c.405C>A (p.Tyr135Ter)	CPE (Y135*)	Single nucleotide variant (nonsense)	BDV syndrome	GPathogenic
Select item 2655171	NM_001873.4(CPE):c.417C>T (p.Asn139=)	CPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2486591	NM_001873.4(CPE):c.430A>C (p.Asn144His)	CPE (N144H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3352687	NM_001873.4(CPE):c.456C>T (p.His152=)	CPE	Single nucleotide variant (synonymous variant)	CPE-related disorder	GLikely benign
Select item 3354572	NM_001873.4(CPE):c.495A>C (p.Ala165=)	CPE	Single nucleotide variant (synonymous variant)	CPE-related disorder	GLikely benign
Select item 3057554	NM_001873.4(CPE):c.496G>A (p.Ala166Thr)	CPE (A166T)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 3029146	NM_001873.4(CPE):c.497C>T (p.Ala166Val)	CPE (A166V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1645773	NM_001873.4(CPE):c.505-3dup	CPE	Duplication (intron variant)	BDV syndrome +1 more	GBenign/Likely benign
Select item 3044911	NM_001873.4(CPE):c.505-4_505-3del	CPE	Deletion (intron variant)	CPE-related disorder	GLikely benign
Select item 2230998	NM_001873.4(CPE):c.509G>T (p.Gly170Val)	CPE (G170V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3354215	NM_001873.4(CPE):c.515T>C (p.Leu172Pro)	CPE (L172P)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 3347885	NM_001873.4(CPE):c.529G>T (p.Val177Leu)	CPE (V177L)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 3355972	NM_001873.4(CPE):c.536G>A (p.Arg179Gln)	CPE (R179Q)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 3351400	NM_001873.4(CPE):c.551G>A (p.Gly184Glu)	CPE (G184E)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 3351323	NM_001873.4(CPE):c.553A>C (p.Ile185Leu)	CPE (I185L)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 3054567	NM_001873.4(CPE):c.565C>T (p.Arg189Trp)	CPE (R189W)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 3057502	NM_001873.4(CPE):c.590T>C (p.Ile197Thr)	CPE (I197T)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 3351549	NM_001873.4(CPE):c.597C>T (p.Tyr199=)	CPE	Single nucleotide variant (synonymous variant)	CPE-related disorder	GLikely benign
Select item 3060142	NM_001873.4(CPE):c.598G>A (p.Val200Met)	CPE (V200M)	Single nucleotide variant (missense variant)	CPE-related disorder	GLikely benign
Select item 3051295	NM_001873.4(CPE):c.600G>A (p.Val200=)	CPE	Single nucleotide variant (synonymous variant)	CPE-related disorder	GLikely benign
Select item 1533547	NM_001873.4(CPE):c.672+6G>A	CPE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3344311	NM_001873.4(CPE):c.673-2A>G	CPE	Single nucleotide variant (splice acceptor variant)	CPE-related disorder	GUncertain significance
Select item 3346875	NM_001873.4(CPE):c.681T>C (p.Pro227=)	CPE	Single nucleotide variant (synonymous variant)	CPE-related disorder	GLikely benign
Select item 3052180	NM_001873.4(CPE):c.692C>G (p.Ala231Gly)	CPE (A231G)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 2695602	NM_001873.4(CPE):c.696C>A (p.Val232=)	CPE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1941036	NM_001873.4(CPE):c.719C>G (p.Pro240Arg)	CPE (P240R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3355154	NM_001873.4(CPE):c.735C>G (p.Ala245=)	CPE	Single nucleotide variant (synonymous variant)	CPE-related disorder	GLikely benign
Select item 3269151	NM_001873.4(CPE):c.737A>G (p.Asn246Ser)	CPE (N246S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520533	NM_001873.4(CPE):c.743A>G (p.His248Arg)	CPE (H248R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3054110	NM_001873.4(CPE):c.744T>C (p.His248=)	CPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3344069	NM_001873.4(CPE):c.752A>G (p.Asp251Gly)	CPE (D251G)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 3352972	NM_001873.4(CPE):c.753C>T (p.Asp251=)	CPE	Single nucleotide variant (synonymous variant)	CPE-related disorder	GLikely benign
Select item 2194543	NM_001873.4(CPE):c.768T>A (p.Tyr256Ter)	CPE (Y256*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2912410	NM_001873.4(CPE):c.771A>G (p.Pro257=)	CPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3358020	NM_001873.4(CPE):c.782C>T (p.Thr261Met)	CPE (T261M)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 721258	NM_001873.4(CPE):c.783G>A (p.Thr261=)	CPE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2160231	NM_001873.4(CPE):c.784C>T (p.Arg262Trp)	CPE (R262W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3036214	NM_001873.4(CPE):c.790+10C>T	CPE	Single nucleotide variant (intron variant)	CPE-related disorder	GLikely benign
Select item 2907074	NM_001873.4(CPE):c.790+10C>A	CPE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3354015	NM_001873.4(CPE):c.791-4C>T	CPE	Single nucleotide variant (intron variant)	CPE-related disorder	GLikely benign
Select item 2784680	NM_001873.4(CPE):c.791-4C>G	CPE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3358579	NM_001873.4(CPE):c.796G>T (p.Ala266Ser)	CPE (A266S)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 1599126	NM_001873.4(CPE):c.801C>T (p.His267=)	CPE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1435885	NM_001873.4(CPE):c.809G>C (p.Ser270Thr)	CPE (S270T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2044776	NM_001873.4(CPE):c.811T>G (p.Ser271Ala)	CPE (S271A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2714897	NM_001873.4(CPE):c.825C>T (p.Asp275=)	CPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2634297	NM_001873.4(CPE):c.836A>G (p.Gln279Arg)	CPE (Q279R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2636631	NM_001873.4(CPE):c.847C>T (p.Arg283Trp)	CPE (R283W)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 2350034	NM_001873.4(CPE):c.869C>T (p.Pro290Leu)	CPE (P290L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3353172	NM_001873.4(CPE):c.870G>A (p.Pro290=)	CPE	Single nucleotide variant (synonymous variant)	CPE-related disorder	GLikely benign
Select item 3345917	NM_001873.4(CPE):c.874A>G (p.Met292Val)	CPE (M292V)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 2636600	NM_001873.4(CPE):c.881A>G (p.Asp294Gly)	CPE (D294G)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 1561096	NM_001873.4(CPE):c.887A>G (p.Asn296Ser)	CPE (N296S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2456912	NM_001873.4(CPE):c.889C>T (p.Arg297Trp)	CPE (R297W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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