EPB41L5[gene] - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153085	GRCh38/hg38 2q14.1-14.3(chr2:115302067-129071130)x1	AMMECR1L, BIN1 +254 more	Copy number loss	See cases	GPathogenic
Select item 60184	GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1	ACMSD, AMER3 +391 more	Copy number loss	See cases	GPathogenic
Select item 155658	GRCh38/hg38 2q14.2-14.3(chr2:118687829-121621814)x1	C1QL2, C2orf76 +92 more	Copy number loss	See cases	GPathogenic
Select item 148770	GRCh38/hg38 2q14.2(chr2:119745184-120469045)x1	EPB41L5, INHBB +22 more	Copy number loss	See cases	GUncertain significance
Select item 3275785	NM_020909.4(EPB41L5):c.16C>T (p.Arg6Cys)	EPB41L5 (R6C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2651310	NM_020909.4(EPB41L5):c.24A>G (p.Thr8=)	EPB41L5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3089445	NM_020909.4(EPB41L5):c.34C>T (p.Arg12Trp)	EPB41L5 (R12W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3089446	NM_020909.4(EPB41L5):c.35G>A (p.Arg12Gln)	EPB41L5 (R12Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2651311	NM_020909.4(EPB41L5):c.44G>A (p.Arg15His)	EPB41L5 (R15H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2458864	NM_020909.4(EPB41L5):c.55G>A (p.Glu19Lys)	EPB41L5 (E19K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2464922	NM_020909.4(EPB41L5):c.71G>A (p.Arg24Gln)	EPB41L5 (R24Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3089448	NM_020909.4(EPB41L5):c.83G>A (p.Arg28His)	EPB41L5 (R28H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3089449	NM_020909.4(EPB41L5):c.88G>A (p.Ala30Thr)	EPB41L5 (A30T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2377872	NM_020909.4(EPB41L5):c.131C>T (p.Thr44Met)	EPB41L5 (T44M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3089438	NM_020909.4(EPB41L5):c.157A>G (p.Thr53Ala)	EPB41L5 (T53A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2238750	NM_020909.4(EPB41L5):c.208G>A (p.Asp70Asn)	EPB41L5 (D70N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2396066	NM_020909.4(EPB41L5):c.265A>G (p.Met89Val)	EPB41L5 (M17V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274526	NM_020909.4(EPB41L5):c.307A>C (p.Ser103Arg)	EPB41L5 (S103R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513449	NM_020909.4(EPB41L5):c.341A>G (p.Tyr114Cys)	EPB41L5 (Y114C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089447	NM_020909.4(EPB41L5):c.398A>C (p.Glu133Ala)	EPB41L5 (E133A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593625	NM_020909.4(EPB41L5):c.511C>G (p.Leu171Val)	EPB41L5 (L171V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337496	NM_020909.4(EPB41L5):c.571C>G (p.Pro191Ala)	EPB41L5 (P191A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2651312	NM_020909.4(EPB41L5):c.582T>C (p.Thr194=)	EPB41L5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2236993	NM_020909.4(EPB41L5):c.645G>C (p.Gln215His)	EPB41L5 (Q215H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245017	NM_020909.4(EPB41L5):c.719G>C (p.Arg240Thr)	EPB41L5 (R240T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543833	NM_020909.4(EPB41L5):c.1091C>T (p.Ser364Leu)	EPB41L5 (S364L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405247	NM_020909.4(EPB41L5):c.1205G>A (p.Ser402Asn)	EPB41L5 (S402N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2406679	NM_020909.4(EPB41L5):c.1208A>G (p.Asn403Ser)	EPB41L5 (N331S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507540	NM_020909.4(EPB41L5):c.1214C>G (p.Ser405Cys)	EPB41L5 (S405C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275786	NM_020909.4(EPB41L5):c.1217A>G (p.Gln406Arg)	EPB41L5 (Q406R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204849	NM_020909.4(EPB41L5):c.1222G>C (p.Ala408Pro)	EPB41L5 (A336P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089436	NM_020909.4(EPB41L5):c.1231A>T (p.Met411Leu)	EPB41L5 (M411L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 711263	NM_020909.4(EPB41L5):c.1300_1311dup (p.Pro434_Pro437dup)	EPB41L5	Duplication (inframe_insertion +1 more)	not provided	GLikely benign
Select item 3275788	NM_020909.4(EPB41L5):c.1324C>T (p.His442Tyr)	EPB41L5 (H442Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089437	NM_020909.4(EPB41L5):c.1373A>T (p.Asp458Val)	EPB41L5 (D458V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286015	NM_020909.4(EPB41L5):c.1377A>C (p.Leu459Phe)	EPB41L5 (L459F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605058	NM_020909.4(EPB41L5):c.1391T>C (p.Ile464Thr)	EPB41L5 (I464T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351088	NM_020909.4(EPB41L5):c.1484C>T (p.Pro495Leu)	EPB41L5 (P495L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275787	NM_020909.4(EPB41L5):c.1588A>G (p.Ile530Val)	EPB41L5 (I530V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2518989	NM_020909.4(EPB41L5):c.1603G>A (p.Glu535Lys)	EPB41L5 (E535K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089439	NM_020909.4(EPB41L5):c.1640T>G (p.Val547Gly)	EPB41L5 (V547G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378705	NM_020909.4(EPB41L5):c.1756C>T (p.His586Tyr)	EPB41L5 (H586Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089440	NM_020909.4(EPB41L5):c.1769A>G (p.Asn590Ser)	EPB41L5 (N590S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3089441	NM_020909.4(EPB41L5):c.1867G>A (p.Asp623Asn)	EPB41L5 (D623N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614967	NM_020909.4(EPB41L5):c.1885A>G (p.Lys629Glu)	EPB41L5 (K629E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460854	NM_020909.4(EPB41L5):c.1910C>T (p.Ala637Val)	EPB41L5 (A637V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773428	NM_020909.4(EPB41L5):c.1961A>T (p.Gln654Leu)	EPB41L5 (Q654L)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2315824	NM_020909.4(EPB41L5):c.1981A>G (p.Ile661Val)	EPB41L5 (I661V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089442	NM_020909.4(EPB41L5):c.1991G>A (p.Arg664Gln)	EPB41L5 (R664Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089443	NM_020909.4(EPB41L5):c.2008A>C (p.Ser670Arg)	EPB41L5 (S669R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281114	NM_020909.4(EPB41L5):c.2011G>C (p.Gly671Arg)	EPB41L5 (G671R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275789	NM_020909.4(EPB41L5):c.2043A>C (p.Glu681Asp)	EPB41L5 (E680D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361921	NM_020909.4(EPB41L5):c.2069A>C (p.His690Pro)	EPB41L5 (H689P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280720	NM_020909.4(EPB41L5):c.2104C>G (p.Pro702Ala)	EPB41L5 (P702A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317348	NM_020909.4(EPB41L5):c.2119G>A (p.Val707Ile)	EPB41L5 (V707I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 3062636	GRCh37/hg19 2q14.2(chr2:120273496-120842237)x3	EPB41L5, PTPN4 +2 more	Copy number gain	not specified	GUncertain significance
Select item 3062627	GRCh37/hg19 2q14.1-14.3(chr2:116646793-126388760)x1	C1QL2, C2orf76 +22 more	Copy number loss	not specified	GLikely pathogenic
Select item 1809385	GRCh37/hg19 2q14.1-14.3(chr2:116761476-123897262)x1	C1QL2, C2orf76 +21 more	Copy number loss	not provided	GPathogenic
Select item 1808282	GRCh37/hg19 2q14.2(chr2:120729215-121383896)x3	EPB41L5, INHBB +3 more	Copy number gain	not provided	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1526891	GRCh37/hg19 2q14.2(chr2:120807113-120878743)	EPB41L5	Copy number loss	not specified	GUncertain significance
Select item 1526890	GRCh37/hg19 2q14.2-14.3(chr2:120715409-126676946)	CLASP1, CNTNAP5 +10 more	Copy number gain	not specified	GUncertain significance
Select item 1526888	GRCh37/hg19 2q13-14.3(chr2:113188197-128144700)	ACTR3, BIN1 +51 more	Copy number loss	not specified	GPathogenic
Select item 1341988	GRCh37/hg19 2q14.2-14.3(chr2:120628484-127658188)x1	CNTNAP5, EPB41L5 +11 more	Copy number loss	not provided	GPathogenic
Select item 1341178	GRCh37/hg19 2q14.2(chr2:119967365-121555029)x3	C2orf76, DBI +10 more	Copy number gain	not provided	GUncertain significance
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 814301	GRCh37/hg19 2q14.2(chr2:120613138-121287716)x1	INHBB, TMEM185B +3 more	Copy number loss	not provided	GUncertain significance
Select item 814298	GRCh37/hg19 2q14.2-14.3(chr2:118903294-123099547)x1	TMEM177, TFCP2L1 +18 more	Copy number loss	not provided	GPathogenic
Select item 814297	GRCh37/hg19 2q14.2-14.3(chr2:118872395-128069813)x1	BIN1, PTPN4 +24 more	Copy number loss	not provided	GPathogenic
Select item 814296	GRCh37/hg19 2q14.1-14.2(chr2:115416190-122399064)x1	TMEM177, C2orf76 +20 more	Copy number loss	not provided	GPathogenic
Select item 562675	GRCh37/hg19 2q14.1-14.3(chr2:114707932-124328692)x1	STEAP3, PTPN4 +23 more	Copy number loss	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442443	GRCh37/hg19 2q14.1-14.3(chr2:116754600-123897370)x1	C1QL2, C2orf76 +21 more	Copy number loss	See cases	GPathogenic
Select item 442204	GRCh37/hg19 2q13-14.3(chr2:114056441-123673800)x1	FOXD4L1, ACTR3 +27 more	Copy number loss	See cases	GPathogenic
Select item 441676	GRCh37/hg19 2q14.2-22.1(chr2:120571363-141627287)x1	ACMSD, AMER3 +74 more	Copy number loss	See cases	GPathogenic
Select item 253388	GRCh37/hg19 2q12.3-14.3(chr2:109798247-125658380)x1	RGPD8, ACTR3 +63 more	Copy number loss	See cases	GPathogenic

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Items: 81