ClinVar for Gene (Select 23167) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 140

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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
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 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 3060704	NM_015137.6(EFR3A):c.639-3T>C	EFR3A	Single nucleotide variant (intron variant)	EFR3A-related disorder	GBenign
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 3059061	NM_015137.6(EFR3A):c.489-6_489-5del	EFR3A	Deletion (intron variant)	EFR3A-related disorder	GBenign
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 3057993	NM_015137.6(EFR3A):c.856-9C>T	EFR3A	Single nucleotide variant (intron variant)	EFR3A-related disorder	GLikely benign
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 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 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 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 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 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 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 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 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 3039642	NM_015137.6(EFR3A):c.2311-9T>A	EFR3A	Single nucleotide variant (intron variant)	EFR3A-related disorder	GBenign
Select item 3038625	NM_015137.6(EFR3A):c.2311-5del	EFR3A	Deletion (intron variant)	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 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	AARD, ADCK5 +173 more	Copy number gain	not provided	GPathogenic
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 2689003	NM_015137.6(EFR3A):c.2466A>C (p.Ter822Cys)	EFR3A	Single nucleotide variant (stop lost +1 more)	not provided	GUncertain significance
Select item 2685323	GRCh37/hg19 8q24.22-24.23(chr8:131958531-136738670)x1	ADCY8, CCN4 +13 more	Copy number loss	not provided	GUncertain significance
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 2658818	NM_015137.6(EFR3A):c.15A>G (p.Val5=)	EFR3A	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	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 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 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 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 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 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 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 2579176	GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3	CCN3, CCN4 +558 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2578018	GRCh37/hg19 8q24.21-24.3(chr8:131138343-143473913)	SLA, TRAPPC9 +29 more	Copy number gain	Distal trisomy 8q	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 1808708	GRCh37/hg19 8q23.3-24.22(chr8:112234557-133668379)x1	AARD, ADCY8 +63 more	Copy number loss	not provided	GPathogenic
Select item 1807928	GRCh37/hg19 8q24.22(chr8:132732273-133269561)x3	EFR3A, HHLA1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1527466	GRCh37/hg19 8q24.22(chr8:132812614-133245950)	EFR3A, HHLA1 +2 more	Copy number gain	not specified	GUncertain significance
Select item 1527465	GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771)	ADCK5, ADCY8 +117 more	Copy number gain	not specified	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1328457	GRCh37/hg19 8q24.21-24.3(chr8:128878931-141662233)x3	ADCY8, AGO2 +25 more	Copy number gain	not provided	GUncertain significance
Select item 815169	GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3	ADCK5, ADCY8 +119 more	Copy number gain	not provided	GPathogenic
Select item 815167	GRCh37/hg19 8q24.13-24.3(chr8:126892814-143750028)x1	ADCY8, ADGRB1 +39 more	Copy number loss	not provided	GPathogenic
Select item 815163	GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3	ADGRB1, ADCY8 +155 more	Copy number gain	not provided	GPathogenic
Select item 689217	GRCh37/hg19 8q24.22(chr8:131932469-133020848)x3	ADCY8, EFR3A	Copy number gain	not provided	GUncertain significance
Select item 689071	GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3	ADCK5, ADCY8 +150 more	Copy number gain	not provided	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 687747	GRCh37/hg19 8q24.13-24.22(chr8:124120772-135265846)x1	ADCY8, ANXA13 +43 more	Copy number loss	not provided	GPathogenic
Select item 687690	GRCh37/hg19 8q24.22(chr8:132588071-133169753)x3	EFR3A, HHLA1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	VPS13B, VPS28 +474 more	Copy number gain	not provided	GPathogenic
Select item 685928	GRCh37/hg19 8q24.22(chr8:132812544-133251797)x3	EFR3A, HHLA1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 685266	GRCh37/hg19 8q24.22(chr8:131915430-135240074)x1	ADCY8, CCN4 +11 more	Copy number loss	not provided	GUncertain significance

<< First< Prev

Page of 2