ClinVar for Gene (Select 9718) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 124

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3274397	NM_001100121.2(ECE2):c.1566A>T (p.Glu522Asp)	ECE2, EEF1AKMT4-ECE2 (E493D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274396	NM_001100121.2(ECE2):c.817G>A (p.Val273Met)	ECE2, EEF1AKMT4-ECE2 (V273M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274395	NM_001100121.2(ECE2):c.226G>A (p.Gly76Ser)	ECE2, EEF1AKMT4-ECE2 (G47S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274394	NM_001100121.2(ECE2):c.2237G>A (p.Arg746Gln)	ECE2, EEF1AKMT4-ECE2 (R717Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274393	NM_001100121.2(ECE2):c.532T>C (p.Tyr178His)	ECE2, EEF1AKMT4-ECE2 (Y178H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274392	NM_001100121.2(ECE2):c.2192G>A (p.Arg731His)	ECE2, EEF1AKMT4-ECE2 (R731H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274391	NM_014693.4(EEF1AKMT4-ECE2):c.4G>A (p.Ala2Thr)	ECE2, EEF1AKMT4 +1 more (A2T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274390	NM_001100121.2(ECE2):c.1354G>A (p.Asp452Asn)	ECE2, EEF1AKMT4-ECE2 (D452N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274389	NM_014693.4(EEF1AKMT4-ECE2):c.53G>A (p.Cys18Tyr)	ECE2, EEF1AKMT4 +1 more (C18Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274387	NM_001100121.2(ECE2):c.1981G>A (p.Gly661Arg)	ECE2, EEF1AKMT4-ECE2 (G779R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3238952	GRCh38/hg38 3q27.1-27.2(chr3:183020090-185760128)x1	LOC121048724, LOC121048725 +160 more	Copy number loss	Esodeviation +7 more	GPathogenic
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 3086921	NM_001100121.2(ECE2):c.515A>G (p.Gln172Arg)	ECE2, EEF1AKMT4-ECE2 (Q143R +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3086920	NM_001100121.2(ECE2):c.389G>A (p.Arg130Gln)	ECE2, EEF1AKMT4-ECE2 (R176Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086919	NM_001100121.2(ECE2):c.388C>T (p.Arg130Trp)	ECE2, EEF1AKMT4-ECE2 (R176W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086918	NM_014693.4(EEF1AKMT4-ECE2):c.357C>G (p.Phe119Leu)	ECE2, EEF1AKMT4 +1 more (F119L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086917	NM_014693.4(EEF1AKMT4-ECE2):c.298C>T (p.Arg100Cys)	ECE2, EEF1AKMT4 +1 more (R100C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086916	NM_001100121.2(ECE2):c.2245G>A (p.Gly749Ser)	ECE2, EEF1AKMT4-ECE2 (G749S +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3086915	NM_001100121.2(ECE2):c.2236C>T (p.Arg746Trp)	ECE2, EEF1AKMT4-ECE2 (R746W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086914	NM_001100121.2(ECE2):c.2207G>A (p.Gly736Asp)	ECE2, EEF1AKMT4-ECE2 (G854D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086913	NM_001100121.2(ECE2):c.2173G>A (p.Asp725Asn)	ECE2, EEF1AKMT4-ECE2 (D725N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086912	NM_001100121.2(ECE2):c.2114T>C (p.Phe705Ser)	ECE2, EEF1AKMT4-ECE2 (F705S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086911	NM_001100121.2(ECE2):c.1969C>T (p.Arg657Cys)	ECE2, EEF1AKMT4-ECE2 (R628C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086910	NM_001100121.2(ECE2):c.1913C>G (p.Ala638Gly)	ECE2, EEF1AKMT4-ECE2 (A609G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086909	NM_001100121.2(ECE2):c.1865G>A (p.Arg622Gln)	ECE2, EEF1AKMT4-ECE2 (R668Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086908	NM_001100121.2(ECE2):c.1714G>A (p.Val572Ile)	ECE2, EEF1AKMT4-ECE2 (V690I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086907	NM_001100121.2(ECE2):c.1647C>A (p.Ser549Arg)	ECE2, EEF1AKMT4-ECE2 (S595R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086906	NM_001100121.2(ECE2):c.1523C>G (p.Pro508Arg)	ECE2, EEF1AKMT4-ECE2 (P626R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086905	NM_001100121.2(ECE2):c.1415A>C (p.Glu472Ala)	ECE2, EEF1AKMT4-ECE2 (E472A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086904	NM_001100121.2(ECE2):c.1399C>T (p.Arg467Trp)	ECE2, EEF1AKMT4-ECE2 (R438W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086903	NM_001100121.2(ECE2):c.1135C>T (p.Arg379Cys)	ECE2, EEF1AKMT4-ECE2 (R379C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086902	NM_014693.4(EEF1AKMT4-ECE2):c.13G>A (p.Gly5Arg)	ECE2, EEF1AKMT4 +1 more (G5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086901	NM_001100121.2(ECE2):c.961G>A (p.Asp321Asn)	ECE2, EEF1AKMT4-ECE2 (D292N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086900	NM_001100121.2(ECE2):c.682A>T (p.Arg228Trp)	ECE2, EEF1AKMT4-ECE2 (R346W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062712	GRCh37/hg19 3q26.33-27.2(chr3:179391972-185539073)x1	ABCC5, ABCF3 +47 more	Copy number loss	not specified	GPathogenic
Select item 3062690	GRCh37/hg19 3q27.1-27.2(chr3:183822591-185678620)x3	ABCF3, ALG3 +26 more	Copy number gain	not specified	GUncertain significance
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2654314	NM_001100121.2(ECE2):c.1986G>A (p.Glu662=)	ECE2, EEF1AKMT4-ECE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654313	NM_001100121.2(ECE2):c.1302G>A (p.Thr434=)	ECE2, EEF1AKMT4-ECE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622238	NM_001100121.2(ECE2):c.1885T>A (p.Ser629Thr)	ECE2, EEF1AKMT4-ECE2 (S600T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615127	NM_001100121.2(ECE2):c.1783G>T (p.Gly595Cys)	ECE2, EEF1AKMT4-ECE2 (G566C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613152	NM_014693.4(EEF1AKMT4-ECE2):c.59A>G (p.Tyr20Cys)	ECE2, EEF1AKMT4 +1 more (Y20C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609438	NM_001100121.2(ECE2):c.1630C>T (p.Leu544Phe)	ECE2, EEF1AKMT4-ECE2 (L515F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608562	NM_001100121.2(ECE2):c.335G>A (p.Arg112Gln)	ECE2, EEF1AKMT4-ECE2 (R112Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598583	NM_014693.4(EEF1AKMT4-ECE2):c.116A>G (p.Tyr39Cys)	ECE2, EEF1AKMT4 +1 more (Y39C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596307	NM_001100121.2(ECE2):c.251A>G (p.Gln84Arg)	ECE2, EEF1AKMT4-ECE2 (Q130R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552592	NM_014693.4(EEF1AKMT4-ECE2):c.70G>C (p.Glu24Gln)	ECE2, EEF1AKMT4 +1 more (E24Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2521633	NM_001100121.2(ECE2):c.2132C>T (p.Ser711Leu)	ECE2, EEF1AKMT4-ECE2 (S829L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486031	NM_014693.4(EEF1AKMT4-ECE2):c.19G>A (p.Gly7Ser)	ECE2, EEF1AKMT4 +1 more (G7S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472721	NM_001100121.2(ECE2):c.995C>T (p.Ser332Leu)	ECE2, EEF1AKMT4-ECE2 (S303L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466133	NM_014693.4(EEF1AKMT4-ECE2):c.422G>A (p.Arg141Gln)	ECE2, EEF1AKMT4 +1 more (R141Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2459121	NM_014693.4(EEF1AKMT4-ECE2):c.400G>C (p.Asp134His)	ECE2, EEF1AKMT4 +1 more (D134H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425419	NC_000003.11:g.(?_182733226)_(184094097_?)del	CAMK2N2, CLCN2 +26 more	Deletion	ALG3-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 2425112	NC_000003.11:g.(?_183368145)_(184094097_?)del	ABCC5, ABCF3 +21 more	Deletion	not provided	GUncertain significance
Select item 2400830	NM_001100121.2(ECE2):c.2002G>A (p.Gly668Arg)	ECE2, EEF1AKMT4-ECE2 (G668R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398874	NM_001100121.2(ECE2):c.1910C>T (p.Thr637Met)	ECE2, EEF1AKMT4-ECE2 (T608M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390740	NM_014693.4(EEF1AKMT4-ECE2):c.35A>G (p.Glu12Gly)	ECE2, EEF1AKMT4 +1 more (E12G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386716	NM_014693.4(EEF1AKMT4-ECE2):c.277G>A (p.Val93Met)	ECE2, EEF1AKMT4 +1 more (V93M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367988	NM_001100121.2(ECE2):c.1723G>A (p.Ala575Thr)	ECE2, EEF1AKMT4-ECE2 (A546T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367549	NM_001100121.2(ECE2):c.1966G>A (p.Gly656Ser)	ECE2, EEF1AKMT4-ECE2 (G702S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358421	NM_001100121.2(ECE2):c.650T>C (p.Met217Thr)	ECE2, EEF1AKMT4-ECE2 (M217T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342197	NM_001100121.2(ECE2):c.1309G>A (p.Ala437Thr)	ECE2, EEF1AKMT4-ECE2 (A408T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333296	NM_001100121.2(ECE2):c.1139C>T (p.Thr380Met)	ECE2, EEF1AKMT4-ECE2 (T380M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332059	NM_001100121.2(ECE2):c.215C>T (p.Ala72Val)	ECE2, EEF1AKMT4-ECE2 (A118V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325156	NM_001100121.2(ECE2):c.1952G>C (p.Gly651Ala)	ECE2, EEF1AKMT4-ECE2 (G651A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319245	NM_014693.4(EEF1AKMT4-ECE2):c.223G>A (p.Glu75Lys)	ECE2, EEF1AKMT4 +1 more (E75K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317044	NM_001100121.2(ECE2):c.1328G>T (p.Gly443Val)	ECE2, EEF1AKMT4-ECE2 (G443V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315823	NM_001100121.2(ECE2):c.1448A>C (p.Lys483Thr)	ECE2, EEF1AKMT4-ECE2 (K454T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313074	NM_001100121.2(ECE2):c.1771C>G (p.Leu591Val)	ECE2, EEF1AKMT4-ECE2 (L709V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306822	NM_001100121.2(ECE2):c.872G>A (p.Arg291Gln)	ECE2, EEF1AKMT4-ECE2 (R409Q +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2305604	NM_001100121.2(ECE2):c.656T>C (p.Val219Ala)	ECE2, EEF1AKMT4-ECE2 (V190A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293913	NM_014693.4(EEF1AKMT4-ECE2):c.397C>A (p.Leu133Met)	ECE2, EEF1AKMT4 +1 more (L133M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293038	NM_001100121.2(ECE2):c.1634G>A (p.Arg545His)	ECE2, EEF1AKMT4-ECE2 (R591H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290577	NM_001100121.2(ECE2):c.2197C>T (p.Arg733Cys)	ECE2, EEF1AKMT4-ECE2 (R851C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288907	NM_001100121.2(ECE2):c.1776C>G (p.Asn592Lys)	ECE2, EEF1AKMT4-ECE2 (N592K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274649	NM_001100121.2(ECE2):c.352G>A (p.Glu118Lys)	ECE2, EEF1AKMT4-ECE2 (E118K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259559	NM_001100121.2(ECE2):c.1358G>T (p.Arg453Leu)	ECE2, EEF1AKMT4-ECE2 (R424L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243712	NM_001100121.2(ECE2):c.628C>T (p.Pro210Ser)	ECE2, EEF1AKMT4-ECE2 (P328S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239005	NM_001100121.2(ECE2):c.810T>A (p.Asn270Lys)	ECE2, EEF1AKMT4-ECE2 (N316K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220176	NM_001100121.2(ECE2):c.635A>G (p.Asp212Gly)	ECE2, EEF1AKMT4-ECE2 (D183G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208483	NM_001100121.2(ECE2):c.413G>A (p.Arg138His)	ECE2, EEF1AKMT4-ECE2 (R184H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1710512	GRCh37/hg19 3q26.33-27.2(chr3:181062175-185474509)x1	DCUN1D1, ALG3 +41 more	Copy number loss	not provided	GPathogenic
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1707428	GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3	ABCC5, ABCF3 +118 more	Copy number gain	See cases	GPathogenic
Select item 1703654	GRCh37/hg19 3q27.1-28(chr3:183556940-188083060)	ABCC5, ABCF3 +53 more	Copy number loss	Short stature	GPathogenic
Select item 1527063	GRCh37/hg19 3q27.1-27.3(chr3:183178932-186838042)	ABCC5, ABCF3 +49 more	Copy number loss	not specified	GPathogenic
Select item 1527061	GRCh37/hg19 3q26.33-27.3(chr3:182189525-187212935)	ABCC5, ABCF3 +59 more	Copy number loss	not specified	GPathogenic
Select item 1328104	GRCh37/hg19 3q26.31-27.3(chr3:175119199-187592480)x3	ABCC5, ABCF3 +82 more	Copy number gain	not provided	GPathogenic
Select item 986756	GRCh37/hg19 3q26.33-27.2(chr3:181171210-184706091)x1	ECE2, FAM131A +34 more	Copy number loss	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 980554	GRCh37/hg19 3q27.1-27.3(chr3:182877291-186830759)x1	CLCN2, YEATS2 +52 more	Copy number loss	not provided	GPathogenic
Select item 814505	GRCh37/hg19 3q27.1-27.3(chr3:183789584-186034649)x1	DVL3, ALG3 +28 more	Copy number loss	not provided	GLikely pathogenic
Select item 814497	GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3	FXR1, HTR3D +113 more	Copy number gain	not provided	GPathogenic
Select item 789726	NM_014693.4(EEF1AKMT4-ECE2):c.380T>C (p.Val127Ala)	ECE2, EEF1AKMT4 +1 more (V127A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 780900	NM_001100121.2(ECE2):c.1358G>A (p.Arg453Gln)	ECE2, EEF1AKMT4-ECE2 (R453Q +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 780899	NM_001100121.2(ECE2):c.744T>C (p.Val248=)	ECE2, EEF1AKMT4-ECE2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 771357	NM_001100121.2(ECE2):c.1200C>T (p.Ser400=)	ECE2, EEF1AKMT4-ECE2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 562850	GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3	FYTTD1, FAM43A +103 more	Copy number gain	not provided	GPathogenic
Select item 562848	GRCh37/hg19 3q26.33-28(chr3:182650681-191275809)x1	KNG1, FETUB +75 more	Copy number loss	not provided	GPathogenic
Select item 562847	GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3	PPP1R2, TBCCD1 +126 more	Copy number gain	not provided	GPathogenic

<< First< Prev

Page of 2