ClinVar for Gene (Select 1363) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358627	NM_001873.4(CPE):c.1197C>T (p.Asp399=)	CPE	Single nucleotide variant (synonymous variant)	CPE-related disorder	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 3358020	NM_001873.4(CPE):c.782C>T (p.Thr261Met)	CPE (T261M)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
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 3357419	NM_001873.4(CPE):c.362G>A (p.Arg121Gln)	CPE (R121Q)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 3357174	NM_001873.4(CPE):c.907A>G (p.Asn303Asp)	CPE (N303D)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 3356983	NM_001873.4(CPE):c.1289C>T (p.Ala430Val)	CPE (A430V)	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 3356419	NM_001873.4(CPE):c.1020C>T (p.Thr340=)	CPE	Single nucleotide variant (synonymous variant)	CPE-related disorder	GLikely benign
Select item 3356279	NM_001873.4(CPE):c.911A>G (p.Asp304Gly)	CPE (D304G)	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 3355559	NM_001873.4(CPE):c.1317C>T (p.Tyr439=)	CPE	Single nucleotide variant (synonymous variant)	CPE-related disorder	GLikely benign
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 3354987	NM_001873.4(CPE):c.945C>A (p.Asn315Lys)	CPE (N315K)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 3354966	NM_001873.4(CPE):c.1334T>C (p.Val445Ala)	CPE (V445A)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 3354835	NM_001873.4(CPE):c.1200C>T (p.His400=)	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 3354385	NM_001873.4(CPE):c.354T>C (p.Ala118=)	CPE	Single nucleotide variant (synonymous variant)	CPE-related disorder	GLikely benign
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 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 3354031	NM_001873.4(CPE):c.1386A>G (p.Glu462=)	CPE	Single nucleotide variant (synonymous variant)	CPE-related disorder	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 3353779	NM_001873.4(CPE):c.292G>A (p.Gly98Ser)	CPE (G98S)	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 3353172	NM_001873.4(CPE):c.870G>A (p.Pro290=)	CPE	Single nucleotide variant (synonymous variant)	CPE-related disorder	GLikely benign
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 3352687	NM_001873.4(CPE):c.456C>T (p.His152=)	CPE	Single nucleotide variant (synonymous variant)	CPE-related disorder	GLikely benign
Select item 3352553	NM_001873.4(CPE):c.912T>C (p.Asp304=)	CPE	Single nucleotide variant (synonymous variant)	CPE-related disorder	GLikely benign
Select item 3352174	NM_001873.4(CPE):c.929T>C (p.Val310Ala)	CPE (V310A)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
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 3351681	NM_001873.4(CPE):c.1113+9A>C	CPE	Single nucleotide variant (intron variant)	CPE-related disorder	GLikely benign
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 3351446	NM_001873.4(CPE):c.1166C>T (p.Ala389Val)	CPE (A389V)	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 3351288	NM_001873.4(CPE):c.169C>A (p.Pro57Thr)	CPE (P57T)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
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 3350553	NM_001873.4(CPE):c.45A>G (p.Ala15=)	CPE, LOC129993339	Single nucleotide variant (synonymous variant)	CPE-related disorder	GLikely benign
Select item 3350521	NM_001873.4(CPE):c.1377G>A (p.Glu459=)	CPE	Single nucleotide variant (synonymous variant)	CPE-related disorder	GLikely benign
Select item 3350196	NM_001873.4(CPE):c.1362A>G (p.Glu454=)	CPE	Single nucleotide variant (synonymous variant)	CPE-related disorder	GLikely benign
Select item 3349955	NM_001873.4(CPE):c.1380G>A (p.Lys460=)	CPE	Single nucleotide variant (synonymous variant)	CPE-related disorder	GLikely benign
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 3346875	NM_001873.4(CPE):c.681T>C (p.Pro227=)	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 3345175	NM_001873.4(CPE):c.942C>A (p.Thr314=)	CPE	Single nucleotide variant (synonymous variant)	CPE-related disorder	GLikely benign
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 3344069	NM_001873.4(CPE):c.752A>G (p.Asp251Gly)	CPE (D251G)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 3340503	NM_001873.4(CPE):c.1208dup (p.Ser404fs)	CPE (S404fs)	Duplication (frameshift variant)	BDV syndrome	GLikely pathogenic
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 3269152	NM_001873.4(CPE):c.1175C>T (p.Thr392Ile)	CPE (T392I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3076616	NM_001873.4(CPE):c.964G>A (p.Val322Ile)	CPE (V322I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062803	GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1	AADAT, ACSL1 +85 more	Copy number loss	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
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 3057680	NM_001873.4(CPE):c.1040A>G (p.Lys347Arg)	CPE (K347R)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
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 3057502	NM_001873.4(CPE):c.590T>C (p.Ile197Thr)	CPE (I197T)	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 3054110	NM_001873.4(CPE):c.744T>C (p.His248=)	CPE	Single nucleotide variant (synonymous variant)	not provided	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 3051295	NM_001873.4(CPE):c.600G>A (p.Val200=)	CPE	Single nucleotide variant (synonymous variant)	CPE-related disorder	GLikely benign
Select item 3044911	NM_001873.4(CPE):c.505-4_505-3del	CPE	Deletion (intron variant)	CPE-related disorder	GLikely benign
Select item 3041395	NM_001873.4(CPE):c.1394A>G (p.Glu465Gly)	CPE (E465G)	Single nucleotide variant (missense variant)	CPE-related disorder	GLikely benign
Select item 3036949	NM_001873.4(CPE):c.1366A>G (p.Lys456Glu)	CPE (K456E)	Single nucleotide variant (missense variant)	CPE-related disorder	GLikely benign
Select item 3036214	NM_001873.4(CPE):c.790+10C>T	CPE	Single nucleotide variant (intron variant)	CPE-related disorder	GLikely benign
Select item 3034803	NM_001873.4(CPE):c.973+3G>A	CPE	Single nucleotide variant (intron variant)	CPE-related disorder	GLikely benign
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 3032761	NM_001873.4(CPE):c.1152A>G (p.Gln384=)	CPE	Single nucleotide variant (synonymous variant)	CPE-related disorder	GLikely benign
Select item 3032605	NM_001873.4(CPE):c.963C>T (p.Ser321=)	CPE	Single nucleotide variant (synonymous variant)	CPE-related disorder	GLikely benign
Select item 3031052	NM_001873.4(CPE):c.968C>T (p.Pro323Leu)	CPE (P323L)	Single nucleotide variant (missense variant)	CPE-related disorder	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 3029629	NM_001873.4(CPE):c.1332+10C>A	CPE	Single nucleotide variant (intron variant)	CPE-related disorder	GLikely benign
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 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	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 2907074	NM_001873.4(CPE):c.790+10C>A	CPE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2804507	NM_001873.4(CPE):c.1263T>G (p.Leu421=)	CPE	Single nucleotide variant (synonymous variant)	not provided	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 2766066	NM_001873.4(CPE):c.945C>T (p.Asn315=)	CPE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2742048	NM_001873.4(CPE):c.207G>A (p.Gln69=)	CPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2714897	NM_001873.4(CPE):c.825C>T (p.Asp275=)	CPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2695602	NM_001873.4(CPE):c.696C>A (p.Val232=)	CPE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	SPOCK3, SPRY1 +153 more	Copy number gain	not provided	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 2655170	NM_001873.4(CPE):c.6C>G (p.Ala2=)	CPE, LOC129993339	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2637119	NM_001873.4(CPE):c.1245A>G (p.Ile415Met)	CPE (I415M)	Single nucleotide variant (missense variant)	CPE-related disorder	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 2636600	NM_001873.4(CPE):c.881A>G (p.Asp294Gly)	CPE (D294G)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
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 2634297	NM_001873.4(CPE):c.836A>G (p.Gln279Arg)	CPE (Q279R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2633526	NM_001873.4(CPE):c.911A>C (p.Asp304Ala)	CPE (D304A)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 2632387	NM_001873.4(CPE):c.938C>T (p.Thr313Ile)	CPE (T313I)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 2631037	NM_001873.4(CPE):c.901C>T (p.Arg301Cys)	CPE (R301C)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 2629962	NM_001873.4(CPE):c.974-3C>T	CPE	Single nucleotide variant (intron variant)	CPE-related disorder	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 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 2591521	NM_001873.4(CPE):c.63G>T (p.Trp21Cys)	CPE, LOC129993339 (W21C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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