EFR3A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LINC02894, LINC02906 +1960 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	LOC130001211, LOC130001212 +1690 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130001139, LOC130001140 +1686 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC126860518, LOC126860519 +1552 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1152 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130000964, LOC130000965 +1531 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130000908, LOC130000909 +1406 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	LOC130001371, LOC130001372 +1329 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130001420, LOC130001421 +1204 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001415, LOC130001416 +1067 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC124188223, LOC124188224 +961 more	Copy number gain	See cases	GPathogenic
Select item 2579176	GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3	CCN3, CCN4 +558 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC130001144, LOC130001145 +745 more	Copy number gain	See cases	GPathogenic
Select item 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 more	Copy number gain	See cases	GPathogenic
Select item 57119	GRCh38/hg38 8q24.21-24.22(chr8:129176782-134170188)x1	ADCY8, ASAP1 +131 more	Copy number loss	See cases	GPathogenic
Select item 144139	GRCh38/hg38 8q24.21-24.3(chr8:130115518-141228210)x3	CCN4, CHRAC1 +206 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	EPPK1, ERICD +499 more	Copy number gain	See cases	GPathogenic
Select item 144285	GRCh38/hg38 8q24.22(chr8:131770098-132203964)x3	EFR3A, HHLA1 +12 more	Copy number gain	See cases	GUncertain significance
Select item 2658818	NM_015137.6(EFR3A):c.15A>G (p.Val5=)	EFR3A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2492596	NM_015137.6(EFR3A):c.32C>T (p.Ala11Val)	EFR3A (A11V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2288973	NM_015137.6(EFR3A):c.37C>T (p.Arg13Cys)	EFR3A (R13C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2409027	NM_015137.6(EFR3A):c.38G>A (p.Arg13His)	EFR3A (R13H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2278447	NM_015137.6(EFR3A):c.52C>T (p.Arg18Cys)	EFR3A (R18C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3087580	NM_015137.6(EFR3A):c.106G>A (p.Asp36Asn)	EFR3A (D36N)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2298821	NM_015137.6(EFR3A):c.106G>C (p.Asp36His)	EFR3A (D36H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3046203	NM_015137.6(EFR3A):c.305A>G (p.His102Arg)	EFR3A (H102R +1 more)	Single nucleotide variant (missense variant +1 more)	EFR3A-related disorder	GBenign
Select item 3087588	NM_015137.6(EFR3A):c.337C>A (p.Pro113Thr)	EFR3A (P77T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087589	NM_015137.6(EFR3A):c.338C>A (p.Pro113Gln)	EFR3A (P113Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555664	NM_015137.6(EFR3A):c.416G>A (p.Arg139His)	EFR3A (R139H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622178	NM_015137.6(EFR3A):c.437G>A (p.Arg146Gln)	EFR3A (R110Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3059061	NM_015137.6(EFR3A):c.489-6_489-5del	EFR3A	Deletion (intron variant)	EFR3A-related disorder	GBenign
Select item 2634906	NM_015137.6(EFR3A):c.489G>T (p.Glu163Asp)	EFR3A (E127D +1 more)	Single nucleotide variant (missense variant +1 more)	EFR3A-related disorder	GUncertain significance
Select item 2228168	NM_015137.6(EFR3A):c.521G>A (p.Gly174Asp)	EFR3A (G138D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3058019	NM_015137.6(EFR3A):c.543C>T (p.Asn181=)	EFR3A	Single nucleotide variant (synonymous variant +1 more)	EFR3A-related disorder	GBenign
Select item 3034454	NM_015137.6(EFR3A):c.591T>G (p.Ile197Met)	EFR3A (I161M +1 more)	Single nucleotide variant (missense variant +1 more)	EFR3A-related disorder	GBenign
Select item 3060704	NM_015137.6(EFR3A):c.639-3T>C	EFR3A	Single nucleotide variant (intron variant)	EFR3A-related disorder	GBenign
Select item 3087590	NM_015137.6(EFR3A):c.641G>T (p.Arg214Leu)	EFR3A (R178L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3045553	NM_015137.6(EFR3A):c.641G>A (p.Arg214His)	EFR3A (R178H +1 more)	Single nucleotide variant (missense variant +1 more)	EFR3A-related disorder	GLikely benign
Select item 2636914	NM_015137.6(EFR3A):c.643A>C (p.Ile215Leu)	EFR3A (I179L +1 more)	Single nucleotide variant (missense variant +1 more)	EFR3A-related disorder	GUncertain significance
Select item 3087591	NM_015137.6(EFR3A):c.650C>T (p.Pro217Leu)	EFR3A (P181L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3042269	NM_015137.6(EFR3A):c.654T>G (p.Pro218=)	EFR3A	Single nucleotide variant (synonymous variant +1 more)	EFR3A-related disorder	GLikely benign
Select item 2395118	NM_015137.6(EFR3A):c.677A>G (p.Lys226Arg)	EFR3A (K226R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3060862	NM_015137.6(EFR3A):c.795A>T (p.Lys265Asn)	EFR3A (K229N +1 more)	Single nucleotide variant (missense variant +1 more)	EFR3A-related disorder	GBenign
Select item 3087592	NM_015137.6(EFR3A):c.839T>C (p.Ile280Thr)	EFR3A (I280T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3057993	NM_015137.6(EFR3A):c.856-9C>T	EFR3A	Single nucleotide variant (intron variant)	EFR3A-related disorder	GLikely benign
Select item 2467295	NM_015137.6(EFR3A):c.925C>T (p.Arg309Trp)	EFR3A (R273W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383765	NM_015137.6(EFR3A):c.926G>A (p.Arg309Gln)	EFR3A (R309Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3044754	NM_015137.6(EFR3A):c.996G>A (p.Pro332=)	EFR3A	Single nucleotide variant (synonymous variant +1 more)	EFR3A-related disorder	GLikely benign
Select item 3087579	NM_015137.6(EFR3A):c.1019C>G (p.Thr340Ser)	EFR3A (T304S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588129	NM_015137.6(EFR3A):c.1019C>T (p.Thr340Ile)	EFR3A (T304I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366457	NM_015137.6(EFR3A):c.1054G>A (p.Glu352Lys)	EFR3A (E316K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608095	NM_015137.6(EFR3A):c.1065T>A (p.Asp355Glu)	EFR3A (D319E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509532	NM_015137.6(EFR3A):c.1091T>C (p.Val364Ala)	EFR3A (V328A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2381352	NM_015137.6(EFR3A):c.1118A>G (p.Asn373Ser)	EFR3A (N337S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528096	NM_015137.6(EFR3A):c.1126A>G (p.Lys376Glu)	EFR3A (K340E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087581	NM_015137.6(EFR3A):c.1184A>T (p.Asp395Val)	EFR3A (D395V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336760	NM_015137.6(EFR3A):c.1187A>G (p.Tyr396Cys)	EFR3A (Y360C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299407	NM_015137.6(EFR3A):c.1259A>G (p.Asp420Gly)	EFR3A (D420G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3061528	NM_015137.6(EFR3A):c.1323T>C (p.Leu441=)	EFR3A	Single nucleotide variant (synonymous variant +1 more)	EFR3A-related disorder	GLikely benign
Select item 2529687	NM_015137.6(EFR3A):c.1361C>A (p.Thr454Asn)	EFR3A (T418N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312249	NM_015137.6(EFR3A):c.1367T>C (p.Leu456Pro)	EFR3A (L420P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3042158	NM_015137.6(EFR3A):c.1390T>C (p.Leu464=)	EFR3A	Single nucleotide variant (synonymous variant +1 more)	EFR3A-related disorder	GLikely benign
Select item 2689004	NM_015137.6(EFR3A):c.1455T>G (p.Asn485Lys)	EFR3A (N449K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2589724	NM_015137.6(EFR3A):c.1508C>T (p.Pro503Leu)	EFR3A (P503L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336469	NM_015137.6(EFR3A):c.1556A>G (p.Asp519Gly)	EFR3A (D519G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326641	NM_015137.6(EFR3A):c.1558A>C (p.Thr520Pro)	EFR3A (T520P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087582	NM_015137.6(EFR3A):c.1658C>T (p.Thr553Ile)	EFR3A (T517I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407352	NM_015137.6(EFR3A):c.1715T>C (p.Ile572Thr)	EFR3A (I536T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287273	NM_015137.6(EFR3A):c.1723G>T (p.Ala575Ser)	EFR3A (A575S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311670	NM_015137.6(EFR3A):c.1767G>C (p.Leu589Phe)	EFR3A (L553F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301926	NM_015137.6(EFR3A):c.1777C>T (p.His593Tyr)	EFR3A (H593Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3055688	NM_015137.6(EFR3A):c.1873A>G (p.Ile625Val)	EFR3A (I589V +1 more)	Single nucleotide variant (missense variant +1 more)	EFR3A-related disorder	GBenign
Select item 2234753	NM_015137.6(EFR3A):c.1925G>A (p.Arg642Lys)	EFR3A (R606K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087584	NM_015137.6(EFR3A):c.1945A>G (p.Lys649Glu)	EFR3A (K613E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551782	NM_015137.6(EFR3A):c.2021A>G (p.Tyr674Cys)	EFR3A (Y674C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3050086	NM_015137.6(EFR3A):c.2023A>G (p.Ser675Gly)	EFR3A (S639G +1 more)	Single nucleotide variant (missense variant +1 more)	EFR3A-related disorder	GLikely benign
Select item 3059722	NM_015137.6(EFR3A):c.2065+1011C>T	EFR3A (P697S)	Single nucleotide variant (missense variant +1 more)	EFR3A-related disorder	GLikely benign
Select item 2493494	NM_015137.6(EFR3A):c.2069A>G (p.Glu690Gly)	EFR3A (E654G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374939	NM_015137.6(EFR3A):c.2075G>A (p.Arg692Gln)	EFR3A (R709Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3049525	NM_015137.6(EFR3A):c.2082T>G (p.Ser694=)	EFR3A	Single nucleotide variant (synonymous variant +1 more)	EFR3A-related disorder	GLikely benign
Select item 3087585	NM_015137.6(EFR3A):c.2149G>A (p.Asp717Asn)	EFR3A (D734N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459231	NM_015137.6(EFR3A):c.2161A>G (p.Ser721Gly)	EFR3A (S685G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2635198	NM_015137.6(EFR3A):c.2174A>G (p.Glu725Gly)	EFR3A (E689G +2 more)	Single nucleotide variant (missense variant +1 more)	EFR3A-related disorder	GUncertain significance
Select item 2342367	NM_015137.6(EFR3A):c.2203A>G (p.Ile735Val)	EFR3A (I735V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3038625	NM_015137.6(EFR3A):c.2311-5del	EFR3A	Deletion (intron variant)	EFR3A-related disorder	GBenign
Select item 3039642	NM_015137.6(EFR3A):c.2311-9T>A	EFR3A	Single nucleotide variant (intron variant)	EFR3A-related disorder	GBenign
Select item 3087586	NM_015137.6(EFR3A):c.2332C>T (p.Leu778Phe)	EFR3A (L795F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3045399	NM_015137.6(EFR3A):c.2370C>A (p.Pro790=)	EFR3A	Single nucleotide variant (synonymous variant +1 more)	EFR3A-related disorder	GLikely benign
Select item 2658819	NM_015137.6(EFR3A):c.2373T>C (p.Ser791=)	EFR3A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3087587	NM_015137.6(EFR3A):c.2399C>A (p.Ser800Tyr)	EFR3A (S800Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2689003	NM_015137.6(EFR3A):c.2466A>C (p.Ter822Cys)	EFR3A	Single nucleotide variant (stop lost +1 more)	not provided	GUncertain significance
Select item 3063051	GRCh37/hg19 8q24.22(chr8:132812615-133245950)x3	EFR3A, HHLA1 +2 more	Copy number gain	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic

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