ClinVar for Gene (Select 54845) - ClinVar

Links from Gene

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3276500	NM_017697.4(ESRP1):c.430A>G (p.Lys144Glu)	ESRP1 (K144E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276499	NM_017697.4(ESRP1):c.1626A>T (p.Leu542Phe)	ESRP1 (L542F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276498	NM_017697.4(ESRP1):c.250G>A (p.Ala84Thr)	ESRP1 (A84T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276497	NM_017697.4(ESRP1):c.2035G>T (p.Val679Phe)	ESRP1 (V679F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276494	NM_017697.4(ESRP1):c.174G>T (p.Leu58Phe)	ESRP1 (L58F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276493	NM_017697.4(ESRP1):c.1961A>C (p.Gln654Pro)	ESRP1 (Q650P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090554	NM_017697.4(ESRP1):c.546A>C (p.Glu182Asp)	ESRP1 (E182D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090553	NM_017697.4(ESRP1):c.509G>A (p.Ser170Asn)	ESRP1 (S170N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3090552	NM_017697.4(ESRP1):c.483G>T (p.Met161Ile)	ESRP1 (M161I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090551	NM_017697.4(ESRP1):c.419G>A (p.Arg140Gln)	ESRP1 (R140Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090550	NM_017697.4(ESRP1):c.409T>A (p.Phe137Ile)	ESRP1 (F137I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090549	NM_017697.4(ESRP1):c.1875C>G (p.Ser625Arg)	ESRP1 (S625R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090548	NM_017697.4(ESRP1):c.1745G>A (p.Arg582Gln)	ESRP1 (R578Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090547	NM_017697.4(ESRP1):c.1300C>T (p.Pro434Ser)	ESRP1 (P434S)	Single nucleotide variant (missense variant)	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 3060039	NM_017697.4(ESRP1):c.327T>C (p.Asp109=)	ESRP1	Single nucleotide variant (synonymous variant)	ESRP1-related disorder	GBenign
Select item 3057349	NM_017697.4(ESRP1):c.1833G>A (p.Ser611=)	ESRP1	Single nucleotide variant (synonymous variant +1 more)	ESRP1-related disorder	GLikely benign
Select item 3057110	NM_017697.4(ESRP1):c.1428G>A (p.Gly476=)	ESRP1	Single nucleotide variant (synonymous variant)	ESRP1-related disorder	GLikely benign
Select item 3056033	NM_017697.4(ESRP1):c.303G>A (p.Gly101=)	ESRP1	Single nucleotide variant (synonymous variant)	ESRP1-related disorder	GLikely benign
Select item 3051202	NM_017697.4(ESRP1):c.798C>T (p.Asn266=)	ESRP1	Single nucleotide variant (synonymous variant)	ESRP1-related disorder	GLikely benign
Select item 3044604	NM_017697.4(ESRP1):c.36-5_36-4dup	ESRP1	Duplication (intron variant)	ESRP1-related disorder	GLikely benign
Select item 3044555	NM_017697.4(ESRP1):c.1158G>A (p.Ala386=)	ESRP1	Single nucleotide variant (synonymous variant)	ESRP1-related disorder	GLikely benign
Select item 3043299	NM_017697.4(ESRP1):c.941A>G (p.Asn314Ser)	ESRP1 (N314S)	Single nucleotide variant (missense variant)	ESRP1-related disorder	GBenign
Select item 3039211	NM_017697.4(ESRP1):c.1494G>A (p.Ala498=)	ESRP1	Single nucleotide variant (synonymous variant)	ESRP1-related disorder	GLikely benign
Select item 3038592	NM_017697.4(ESRP1):c.618G>C (p.Val206=)	ESRP1	Single nucleotide variant (synonymous variant)	ESRP1-related disorder	GLikely benign
Select item 3038487	NM_017697.4(ESRP1):c.930T>A (p.Gly310=)	ESRP1	Single nucleotide variant (synonymous variant)	ESRP1-related disorder	GLikely benign
Select item 3029934	NM_017697.4(ESRP1):c.133-3G>C	ESRP1	Single nucleotide variant (intron variant)	ESRP1-related disorder	GLikely benign
Select item 2685315	GRCh37/hg19 8q21.13-22.1(chr8:84127576-98263585)x1	ATP6V0D2, CA1 +53 more	Copy number loss	not provided	GPathogenic
Select item 2684548	GRCh37/hg19 8q22.1(chr8:94622851-96626603)x3	CCNE2, CDH17 +15 more	Copy number gain	not provided	GUncertain significance
Select item 2684546	GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3	ANKRD46, ATP6V0D2 +96 more	Copy number gain	not provided	GPathogenic
Select item 2604235	NM_017697.4(ESRP1):c.769C>G (p.Leu257Val)	ESRP1 (L257V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562198	NM_017697.4(ESRP1):c.1677T>G (p.Phe559Leu)	ESRP1 (F559L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560076	NM_017697.4(ESRP1):c.1094C>G (p.Pro365Arg)	ESRP1 (P365R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539929	NM_017697.4(ESRP1):c.1060G>A (p.Gly354Arg)	ESRP1 (G354R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535940	NM_017697.4(ESRP1):c.1675T>C (p.Phe559Leu)	ESRP1 (F559L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528684	NM_017697.4(ESRP1):c.471C>A (p.Asp157Glu)	ESRP1 (D157E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506527	GRCh37/hg19 8q21.3-22.1(chr8:89179899-97978274)	LINC02906, LRRC69 +36 more	Copy number loss	not provided	GPathogenic
Select item 2499077	NM_017697.4(ESRP1):c.1656G>T (p.Leu552=)	ESRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2486034	NM_017697.4(ESRP1):c.152T>C (p.Val51Ala)	ESRP1 (V51A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382813	NM_017697.4(ESRP1):c.1405G>A (p.Ala469Thr)	ESRP1 (A469T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364733	NM_017697.4(ESRP1):c.676G>A (p.Val226Ile)	ESRP1 (V226I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349652	NM_017697.4(ESRP1):c.155T>C (p.Leu52Pro)	ESRP1 (L52P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283664	NM_017697.4(ESRP1):c.1372A>G (p.Ile458Val)	ESRP1 (I458V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275881	NM_017697.4(ESRP1):c.437G>A (p.Cys146Tyr)	ESRP1 (C146Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257157	NM_017697.4(ESRP1):c.485C>G (p.Thr162Arg)	ESRP1 (T162R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255887	NM_017697.4(ESRP1):c.286C>A (p.Leu96Met)	ESRP1 (L96M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255151	NM_017697.4(ESRP1):c.175G>C (p.Glu59Gln)	ESRP1 (E59Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245954	NM_017697.4(ESRP1):c.769C>A (p.Leu257Ile)	ESRP1 (L257I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243913	NM_017697.4(ESRP1):c.1418G>A (p.Arg473His)	ESRP1 (R473H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233851	NM_017697.4(ESRP1):c.697C>T (p.Pro233Ser)	ESRP1 (P233S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230464	NM_017697.4(ESRP1):c.521C>G (p.Ser174Cys)	ESRP1 (S174C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220545	NM_017697.4(ESRP1):c.1417C>T (p.Arg473Cys)	ESRP1 (R473C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879719	NM_017697.4(ESRP1):c.987C>T (p.Arg329=)	ESRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
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 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1255396	NM_017697.4(ESRP1):c.1800T>C (p.Asn600=)	ESRP1	Single nucleotide variant (synonymous variant)	Hearing loss, autosomal recessive 109 +1 more	GBenign
Select item 1255395	NM_017697.4(ESRP1):c.984C>T (p.Val328=)	ESRP1	Single nucleotide variant (synonymous variant)	Hearing loss, autosomal recessive 109 +1 more	GBenign
Select item 1255394	NM_017697.4(ESRP1):c.756-23T>C	ESRP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1255393	NM_017697.4(ESRP1):c.490+16T>C	ESRP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 785258	NM_017697.4(ESRP1):c.387A>G (p.Leu129=)	ESRP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 782036	NM_017697.4(ESRP1):c.1212C>T (p.Ser404=)	ESRP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781917	NM_017697.4(ESRP1):c.475G>A (p.Ala159Thr)	ESRP1 (A159T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 778399	NM_017697.4(ESRP1):c.589+10G>T	ESRP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 778398	NM_017697.4(ESRP1):c.133-10A>G	ESRP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 563556	GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3	DCAF13, CNGB3 +105 more	Copy number gain	not provided	GPathogenic
Select item 545506	NM_017697.4(ESRP1):c.775C>G (p.Leu259Val)	ESRP1 (L259V)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive 109	GPathogenic
Select item 545505	NM_017697.4(ESRP1):c.665_683del (p.Asp222fs)	ESRP1 (D222fs)	Deletion (frameshift variant)	Hearing loss, autosomal recessive 109	GPathogenic
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 441804	GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3	RRM2B, SLC30A8 +160 more	Copy number gain	See cases	GPathogenic
Select item 441773	GRCh37/hg19 8q22.1(chr8:93391781-96572606)x1	CCNE2, CDH17 +17 more	Copy number loss	See cases	GLikely pathogenic
Select item 441594	GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3	SLC45A4, SLC7A13 +189 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 147309	GRCh38/hg38 8q22.1(chr8:93038175-95667782)x1	CCNE2, CDH17 +98 more	Copy number loss	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 60387	GRCh38/hg38 8q22.1(chr8:92755532-97792132)x1	CPQ, DPY19L4 +139 more	Copy number loss	See cases	GPathogenic
Select item 60386	GRCh38/hg38 8q21.3-22.1(chr8:92287062-95786443)x1	CCNE2, CDH17 +109 more	Copy number loss	See cases	GPathogenic
Select item 60383	GRCh38/hg38 8q21.3-22.1(chr8:92283179-95786443)x1	CCNE2, CDH17 +109 more	Copy number loss	See cases	GPathogenic
Select item 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 98