"GeneDx"[submitter] AND "EFNB1"[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145980	GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1	HDAC8, HDX +410 more	Copy number loss	See cases	GPathogenic
Select item 145167	GRCh38/hg38 Xq11.1-21.1(chrX:62712219-78605009)x3	ABCB7, AMER1 +263 more	Copy number gain	See cases	GPathogenic
Select item 58641	GRCh38/hg38 Xq12-13.3(chrX:68382004-75243150)x2	ABCB7, ARR3 +161 more	Copy number gain	See cases	GPathogenic
Select item 60326	GRCh38/hg38 Xq12-13.1(chrX:68441645-69382098)x3	EFNB1, LINC00269 +7 more	Copy number gain	See cases	GUncertain significance
Select item 1247969	NC_000023.11:g.68828651T>C	EFNB1	Single nucleotide variant	not provided	GBenign
Select item 1723074	NM_004429.5(EFNB1):c.-695C>T	EFNB1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 3340970	NM_004429.5(EFNB1):c.-588C>A	EFNB1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1277903	NM_004429.5(EFNB1):c.-385G>T	EFNB1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1220447	NM_004429.5(EFNB1):c.-279C>G	EFNB1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 280643	NM_004429.5(EFNB1):c.85dup (p.Ala29fs)	EFNB1 (A29fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1302592	NM_004429.5(EFNB1):c.100C>G (p.Pro34Ala)	EFNB1 (P34A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1233937	NM_004429.5(EFNB1):c.128+220C>G	EFNB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278690	NM_004429.5(EFNB1):c.128+235C>G	EFNB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216134	NM_004429.5(EFNB1):c.129-299C>T	EFNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2497970	NM_004429.5(EFNB1):c.145G>C (p.Gly49Arg)	EFNB1 (G49R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 449015	NM_004429.5(EFNB1):c.161C>G (p.Pro54Arg)	EFNB1 (P54R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 11708	NM_004429.5(EFNB1):c.161C>T (p.Pro54Leu)	EFNB1 (P54L)	Single nucleotide variant (missense variant)	Craniofrontonasal syndrome +1 more	GPathogenic/Likely pathogenic
Select item 11715	NM_004429.5(EFNB1):c.196C>T (p.Arg66Ter)	EFNB1 (R66*)	Single nucleotide variant (nonsense)	Craniofrontonasal syndrome +1 more	GPathogenic
Select item 280631	NM_004429.5(EFNB1):c.219T>G (p.Tyr73Ter)	EFNB1 (Y73*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 418794	NM_004429.5(EFNB1):c.258_266del (p.Ala87_Cys89del)	EFNB1	Deletion (inframe_deletion)	not provided	GPathogenic
Select item 1305944	NM_004429.5(EFNB1):c.266G>C (p.Cys89Ser)	EFNB1 (C89S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817042	NM_004429.5(EFNB1):c.324dup (p.Arg109fs)	EFNB1 (R109fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 521958	NM_004429.5(EFNB1):c.325C>G (p.Arg109Gly)	EFNB1 (R109G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 449016	NM_004429.5(EFNB1):c.365T>C (p.Met122Thr)	EFNB1 (M122T)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 11709	NM_004429.5(EFNB1):c.451G>A (p.Gly151Ser)	EFNB1 (G151S)	Single nucleotide variant (missense variant)	Craniofrontonasal syndrome +1 more	GPathogenic
Select item 1710646	NM_004429.5(EFNB1):c.461G>C (p.Arg154Pro)	EFNB1 (R154P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 374805	NM_004429.5(EFNB1):c.466C>T (p.Arg156Cys)	EFNB1 (R156C)	Single nucleotide variant (missense variant)	Craniofrontonasal syndrome +1 more	GConflicting classifications of pathogenicity
Select item 11711	NM_004429.5(EFNB1):c.472A>G (p.Met158Val)	EFNB1 (M158V)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 376763	NM_004429.5(EFNB1):c.509C>T (p.Ala170Val)	EFNB1 (A170V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 374807	NM_004429.5(EFNB1):c.566T>C (p.Val189Ala)	EFNB1 (V189A)	Single nucleotide variant (missense variant)	Craniofrontonasal syndrome +1 more	GBenign
Select item 1218227	NM_004429.5(EFNB1):c.614_615del (p.Asp204_Ser205insTer)	EFNB1	Microsatellite (nonsense)	not provided	GLikely pathogenic
Select item 620450	NM_004429.5(EFNB1):c.640C>T (p.Gln214Ter)	EFNB1 (Q214*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2442405	NM_004429.5(EFNB1):c.685G>T (p.Asp229Tyr)	EFNB1 (D229Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574487	NM_004429.5(EFNB1):c.728C>T (p.Ala243Val)	EFNB1 (A243V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 770019	NM_004429.5(EFNB1):c.759C>T (p.Leu253=)	EFNB1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2444552	NM_004429.5(EFNB1):c.802C>T (p.Arg268Trp)	EFNB1 (R268W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1205419	NM_004429.5(EFNB1):c.920G>A (p.Arg307Gln)	EFNB1 (R307Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313958	NM_004429.5(EFNB1):c.991G>T (p.Val331Phe)	EFNB1 (V331F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305531	NM_004429.5(EFNB1):c.1024A>G (p.Ile342Val)	EFNB1 (I342V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1222953	NM_004429.5(EFNB1):c.*6C>T	EFNB1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 253954	GRCh37/hg19 Xq12-13.1(chrX:64927267-69276852)x3	EDA, STARD8 +12 more	Copy number gain	See cases	GUncertain significance
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253436	GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3	ABCB7, AKAP4 +250 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic

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Items: 57