2103[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	SAMD15, SEL1L +503 more	Copy number loss	See cases	GPathogenic
Select item 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 more	Copy number loss	See cases	GLikely pathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic
Select item 148020	GRCh38/hg38 14q24.3(chr14:74986195-76399258)x1	ACYP1, BATF +71 more	Copy number loss	See cases	GUncertain significance
Select item 57809	GRCh38/hg38 14q24.3-31.1(chr14:75489052-79610332)x1	ADCK1, AHSA1 +155 more	Copy number loss	See cases	GPathogenic
Select item 146816	GRCh38/hg38 14q24.3(chr14:76319351-76844718)x3	ANGEL1, ESRRB +16 more	Copy number gain	See cases	GLikely benign
Select item 314473	NM_004452.4(ESRRB):c.-369G>A	ESRRB	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 35	GUncertain significance
Select item 314474	NM_004452.4(ESRRB):c.-324G>A	ESRRB	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 35	GUncertain significance
Select item 314475	NM_004452.4(ESRRB):c.-300A>G	ESRRB	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 35	GUncertain significance
Select item 314476	NM_004452.4(ESRRB):c.-292C>A	ESRRB	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 35	GUncertain significance
Select item 314477	NM_004452.4(ESRRB):c.-236C>T	ESRRB	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 35	GUncertain significance
Select item 314478	NM_004452.4(ESRRB):c.-211A>G	ESRRB	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 35	GUncertain significance
Select item 314479	NM_004452.4(ESRRB):c.-191T>C	ESRRB	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 35	GUncertain significance
Select item 314480	NM_001379180.1(ESRRB):c.50+27963T>C	ESRRB	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 35	GUncertain significance
Select item 884479	NM_001379180.1(ESRRB):c.50+27968G>A	ESRRB	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 35	GUncertain significance
Select item 884480	NM_001379180.1(ESRRB):c.50+28005T>C	ESRRB	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 35	GUncertain significance
Select item 1196713	NM_001379180.1(ESRRB):c.51-305C>T	ESRRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1328606	NM_001379180.1(ESRRB):c.51-18C>T	ESRRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 179837	NM_004452.3(ESRRB):c.(?_1)_(1527_?)del	LOC130056147, LOC130056148 +1 more	Deletion	Rare genetic deafness	GLikely pathogenic
Select item 619041	NM_001379180.1(ESRRB):c.66G>A (p.Met22Ile)	ESRRB (M1I +1 more)	Single nucleotide variant (missense variant +1 more)	Premature ovarian insufficiency	GUncertain significance
Select item 597788	NM_001379180.1(ESRRB):c.75C>A (p.Asp25Glu)	ESRRB (D4E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 163416	NM_001379180.1(ESRRB):c.79A>G (p.Arg27Gly)	ESRRB (R6G +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1921590	NM_001379180.1(ESRRB):c.138G>A (p.Ser46=)	ESRRB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 45001	NM_001379180.1(ESRRB):c.144C>A (p.Ile48=)	ESRRB	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 314481	NM_001379180.1(ESRRB):c.177G>A (p.Ser59=)	ESRRB	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1367448	NM_001379180.1(ESRRB):c.184G>A (p.Ala62Thr)	ESRRB (A62T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 314482	NM_001379180.1(ESRRB):c.190G>A (p.Gly64Ser)	ESRRB (G43S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 44998	NM_001379180.1(ESRRB):c.204G>C (p.Leu68=)	ESRRB	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 178342	NM_001379180.1(ESRRB):c.206C>T (p.Ala69Val)	ESRRB (A48V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2261570	NM_001379180.1(ESRRB):c.221C>T (p.Ala74Val)	ESRRB (A53V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2979795	NM_001379180.1(ESRRB):c.225C>T (p.Asn75=)	ESRRB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2223191	NM_001379180.1(ESRRB):c.226G>T (p.Gly76Cys)	ESRRB (G76C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 885419	NM_001379180.1(ESRRB):c.226G>A (p.Gly76Ser)	ESRRB (G55S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 35	GUncertain significance
Select item 2471412	NM_001379180.1(ESRRB):c.229C>G (p.Leu77Val)	ESRRB (L56V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1467203	NM_001379180.1(ESRRB):c.229C>A (p.Leu77Met)	ESRRB (L56M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990933	NM_001379180.1(ESRRB):c.237G>A (p.Ser79=)	ESRRB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 885420	NM_001379180.1(ESRRB):c.260G>A (p.Gly87Glu)	ESRRB (G66E +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2395176	NM_001379180.1(ESRRB):c.278G>A (p.Cys93Tyr)	ESRRB (C77Y +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 885421	NM_001379180.1(ESRRB):c.292G>A (p.Glu98Lys)	ESRRB (E77K +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 35	GUncertain significance
Select item 314483	NM_001379180.1(ESRRB):c.302C>T (p.Ala101Val)	ESRRB (A80V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1608220	NM_001379180.1(ESRRB):c.306C>T (p.Ser102=)	ESRRB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1398279	NM_001379180.1(ESRRB):c.307G>C (p.Gly103Arg)	ESRRB (G103R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 505211	NM_001379180.1(ESRRB):c.312C>A (p.Ile104=)	ESRRB	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3253223	NM_001379180.1(ESRRB):c.322T>G (p.Ser108Ala)	ESRRB (S108A +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2506864	NM_001379180.1(ESRRB):c.340T>C (p.Tyr114His)	ESRRB (Y114H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2128050	NM_001379180.1(ESRRB):c.376G>T (p.Val126Leu)	ESRRB (V126L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 227364	NM_001379180.1(ESRRB):c.378G>A (p.Val126=)	ESRRB	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 7499	NM_001379180.1(ESRRB):c.392C>T (p.Ala131Val)	ESRRB (A110V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 35	GPathogenic
Select item 45000	NM_001379180.1(ESRRB):c.414G>A (p.Val138=)	ESRRB	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2877706	NM_001379180.1(ESRRB):c.417C>T (p.Ala139=)	ESRRB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 163419	NM_001379180.1(ESRRB):c.460+4C>T	ESRRB	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 228674	NM_001379180.1(ESRRB):c.460+5G>A	ESRRB	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 682629	NM_001379180.1(ESRRB):c.460+56T>C	ESRRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266600	NM_001379180.1(ESRRB):c.460+64T>C	ESRRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682630	NM_001379180.1(ESRRB):c.460+100T>C	ESRRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248448	NM_001379180.1(ESRRB):c.461-263A>G	ESRRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186286	NM_001379180.1(ESRRB):c.461-249C>T	ESRRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233043	NM_001379180.1(ESRRB):c.461-214A>G	ESRRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243235	NM_001379180.1(ESRRB):c.461-158A>G	ESRRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222824	NM_001379180.1(ESRRB):c.461-116A>G	ESRRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209439	NM_001379180.1(ESRRB):c.461-115C>T	ESRRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283925	NM_001379180.1(ESRRB):c.461-112G>A	ESRRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2990483	NM_001379180.1(ESRRB):c.461-12G>A	ESRRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 314484	NM_001379180.1(ESRRB):c.480C>T (p.Cys160=)	ESRRB	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 35	GUncertain significance
Select item 2507803	NM_001379180.1(ESRRB):c.482C>T (p.Pro161Leu)	ESRRB (P161L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 666696	NM_001379180.1(ESRRB):c.483G>A (p.Pro161=)	ESRRB	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 517290	NM_001379180.1(ESRRB):c.492C>T (p.Asn164=)	ESRRB	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2137608	NM_001379180.1(ESRRB):c.498C>A (p.Cys166Ter)	ESRRB (C150* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3090577	NM_001379180.1(ESRRB):c.512G>A (p.Arg171Gln)	ESRRB (R150Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579911	NM_001379180.1(ESRRB):c.517C>T (p.Arg173Cys)	ESRRB (R152C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3090578	NM_001379180.1(ESRRB):c.533C>G (p.Ala178Gly)	ESRRB (A162G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 666830	NM_001379180.1(ESRRB):c.533C>T (p.Ala178Val)	ESRRB (A157V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2662378	NM_001379180.1(ESRRB):c.536G>A (p.Cys179Tyr)	ESRRB (C158Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 666829	NM_001379180.1(ESRRB):c.538C>T (p.Arg180Cys)	ESRRB (R159C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1978091	NM_001379180.1(ESRRB):c.539G>A (p.Arg180His)	ESRRB (R159H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575012	NM_001379180.1(ESRRB):c.558A>G (p.Lys186=)	ESRRB	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1174538	NM_001379180.1(ESRRB):c.562G>A (p.Gly188Arg)	ESRRB (G167R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 35	GPathogenic
Select item 314485	NM_001379180.1(ESRRB):c.577+15C>T	ESRRB	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 35 +1 more	GConflicting classifications of pathogenicity
Select item 683345	NM_001379180.1(ESRRB):c.577+21G>A	ESRRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199922	NM_001379180.1(ESRRB):c.577+31G>A	ESRRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200348	NM_001379180.1(ESRRB):c.577+45G>C	ESRRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1254332	NM_001379180.1(ESRRB):c.578-96dup	ESRRB	Duplication (intron variant)	not provided	GBenign
Select item 1523899	NM_001379180.1(ESRRB):c.578-9C>A	ESRRB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 314486	NM_001379180.1(ESRRB):c.578-4A>G	ESRRB	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 35	GUncertain significance
Select item 869463	NM_001379180.1(ESRRB):c.583C>T (p.Arg195Cys)	ESRRB (R174C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 35	GLikely pathogenic
Select item 1800765	NM_001379180.1(ESRRB):c.598C>T (p.Arg200Cys)	ESRRB (R179C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663215	NM_001379180.1(ESRRB):c.599G>T (p.Arg200Leu)	ESRRB (R179L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 929998	NM_001379180.1(ESRRB):c.599G>A (p.Arg200His)	ESRRB (R200H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402254	NM_001379180.1(ESRRB):c.608G>A (p.Arg203His)	ESRRB (R182H +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 35	GPathogenic
Select item 1589761	NM_001379180.1(ESRRB):c.621G>A (p.Lys207=)	ESRRB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1695771	NM_001379180.1(ESRRB):c.623G>A (p.Arg208Gln)	ESRRB (R187Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1370126	NM_001379180.1(ESRRB):c.625C>T (p.Arg209Trp)	ESRRB (R209W +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 666831	NM_001379180.1(ESRRB):c.626G>A (p.Arg209Gln)	ESRRB (R188Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2900630	NM_001379180.1(ESRRB):c.654G>T (p.Leu218=)	ESRRB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 314487	NM_001379180.1(ESRRB):c.659T>C (p.Leu220Ser)	ESRRB (L199S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2060297	NM_001379180.1(ESRRB):c.684G>A (p.Lys228=)	ESRRB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2719517	NM_001379180.1(ESRRB):c.688+1G>A	ESRRB	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic

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