57492[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 524176	t(1;6)(p31;q25)dn	ARID1B	Translocation	not provided	GPathogenic
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	FBXO5, FNDC1 +865 more	Copy number gain	See cases	GPathogenic
Select item 2663766	NC_000006.12:g.(?_150381239)_(159553952_?)del	LOC129997480, LOC129997522 +288 more	Deletion	Chromosome 6q24-q25 deletion syndrome	GPathogenic
Select item 150766	GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1	AKAP12, ARID1B +288 more	Copy number loss	See cases	GPathogenic
Select item 2579284	GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1	AKAP12, ARID1B +208 more	Copy number loss	Coffin-Siris syndrome 1	GPathogenic
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	ACAT2, AFDN +571 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	ACAT2, AFDN +563 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	LOC129997707, LOC129997708 +548 more	Copy number loss	See cases	GPathogenic
Select item 145547	GRCh38/hg38 6q25.2-25.3(chr6:154178964-159020369)x1	ARID1B, CLDN20 +188 more	Copy number loss	See cases	GLikely pathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	ACAT2, AFDN +539 more	Copy number loss	See cases	GPathogenic
Select item 148765	GRCh38/hg38 6q25.3-26(chr6:155378049-163133499)x1	SOD2, SOD2-OT1 +270 more	Copy number loss	See cases	GPathogenic
Select item 58454	GRCh38/hg38 6q25.3(chr6:155869250-156798955)x1	ARID1B, LOC105378073 +24 more	Copy number loss	See cases	GPathogenic
Select item 57138	GRCh38/hg38 6q25.3(chr6:156228411-157108989)x1	ARID1B, LOC105378073 +41 more	Copy number loss	See cases	GLikely pathogenic
Select item 154650	GRCh38/hg38 6q25.3(chr6:156353632-157547741)x3	ARID1B, LOC105378073 +58 more	Copy number gain	See cases	GLikely benign
Select item 147313	GRCh38/hg38 6q25.3(chr6:156353632-157449782)x1	ARID1B, LOC105378073 +55 more	Copy number loss	See cases	GPathogenic
Select item 146050	GRCh38/hg38 6q25.3(chr6:156353632-157547682)x1	ARID1B, LOC105378073 +58 more	Copy number loss	See cases	GUncertain significance
Select item 1282345	NM_001374828.1(ARID1B):c.15AGC[3] (p.Ala14dup)	ARID1B, LOC115308161 +1 more	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 2749077	NM_001374828.1(ARID1B):c.19GCG[14] (p.Ala14_Arg15insAlaAlaAlaAlaAlaAla)	ARID1B, LOC115308161 +1 more	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1199905	NM_001374828.1(ARID1B):c.19GCG[11] (p.Ala12_Ala14dup)	ARID1B, LOC115308161 +1 more	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 2673087	NM_001374828.1(ARID1B):c.19GCG[5] (p.Ala12_Ala14del)	ARID1B, LOC115308161 +1 more	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 2584657	NM_001374828.1(ARID1B):c.19GCG[7] (p.Ala14del)	ARID1B, LOC115308161 +1 more (A14del)	Microsatellite (inframe_deletion)	Coffin-Siris syndrome 1	GUncertain significance
Select item 2657049	NM_001374828.1(ARID1B):c.21G>A (p.Ala7=)	ARID1B, LOC115308161 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1676049	NM_001374828.1(ARID1B):c.42GCGGGC[1] (p.15RA[1])	ARID1B, LOC115308161	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 2579011	NM_001374828.1(ARID1B):c.141GGC[7] (p.Ala53_Pro54insAla)	ARID1B, LOC115308161	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 1266098	NM_001374828.1(ARID1B):c.199G>A (p.Gly67Ser)	ARID1B, LOC115308161 +1 more (G67S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1288785	NM_001374828.1(ARID1B):c.210T>G (p.Ser70Arg)	ARID1B, LOC115308161 +1 more (S70R)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 210264	NM_001374828.1(ARID1B):c.247A>G (p.Asn83Asp)	LOC129997523, ARID1B +1 more (N83D)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 930553	NM_001374828.1(ARID1B):c.253G>T (p.Ala85Ser)	LOC115308161, LOC129997523 +1 more (A85S)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	GUncertain significance
Select item 1712785	NM_001374828.1(ARID1B):c.256C>T (p.His86Tyr)	ARID1B, LOC115308161 +1 more (H3Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2772729	NM_001374828.1(ARID1B):c.258T>A (p.His86Gln)	ARID1B, LOC115308161 +1 more (H3Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 589129	NM_001374828.1(ARID1B):c.266_274dup (p.Gly89_Ala91dup)	ARID1B, LOC115308161 +1 more	Duplication (inframe_insertion)	not provided +2 more	GLikely benign
Select item 374256	NM_001374828.1(ARID1B):c.266G>A (p.Gly89Asp)	ARID1B, LOC115308161 +1 more (G6D +1 more)	Single nucleotide variant (missense variant)	ARID1B-related BAFopathy	GLikely pathogenic
Select item 3036532	NM_001374828.1(ARID1B):c.269C>G (p.Ala90Gly)	ARID1B, LOC115308161 +1 more (A7G +1 more)	Single nucleotide variant (missense variant)	ARID1B-related disorder	GUncertain significance
Select item 2063108	NM_001374828.1(ARID1B):c.269C>T (p.Ala90Val)	ARID1B, LOC115308161 +1 more (A7V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1789270	NM_001374828.1(ARID1B):c.271G>C (p.Ala91Pro)	ARID1B, LOC115308161 +1 more (A8P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1598675	NM_001374828.1(ARID1B):c.274G>A (p.Ala92Thr)	ARID1B, LOC115308161 +1 more (A92T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2920581	NM_001374828.1(ARID1B):c.275C>T (p.Ala92Val)	ARID1B, LOC115308161 +1 more (A92V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2629103	NM_001374828.1(ARID1B):c.275C>G (p.Ala92Gly)	ARID1B, LOC115308161 +1 more (A92G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 210283	NM_001374828.1(ARID1B):c.283G>A (p.Gly95Ser)	ARID1B, LOC115308161 +1 more (G12S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2240750	NM_001374828.1(ARID1B):c.292A>G (p.Ser98Gly)	ARID1B, LOC115308161 +1 more (S15G +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1 +2 more	GUncertain significance
Select item 1967176	NM_001374828.1(ARID1B):c.295G>A (p.Ala99Thr)	ARID1B, LOC115308161 +1 more (A16T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327855	NM_001374828.1(ARID1B):c.300G>C (p.Lys100Asn)	ARID1B, LOC115308161 +1 more (K100N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1879673	NM_001374828.1(ARID1B):c.303C>A (p.Ser101Arg)	ARID1B, LOC115308161 +1 more (S101R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 589077	NM_001374828.1(ARID1B):c.304G>C (p.Gly102Arg)	LOC129997523, ARID1B +1 more (G19R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2159869	NM_001374828.1(ARID1B):c.306C>T (p.Gly102=)	ARID1B, LOC115308161 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1752710	NM_001374828.1(ARID1B):c.311C>G (p.Ser104Cys)	ARID1B, LOC115308161 +1 more (S21C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1753295	NM_001374828.1(ARID1B):c.312C>A (p.Ser104=)	ARID1B, LOC115308161 +1 more	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2053724	NM_001374828.1(ARID1B):c.313G>A (p.Glu105Lys)	ARID1B, LOC115308161 +1 more (E105K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 986807	NM_001374828.1(ARID1B):c.313_323del (p.Glu105fs)	ARID1B, LOC115308161 +1 more (E105fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2912559	NM_001374828.1(ARID1B):c.318G>C (p.Ala106=)	ARID1B, LOC115308161 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 126337	NM_001374828.1(ARID1B):c.318G>A (p.Ala106=)	LOC115308161, LOC129997523 +1 more	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 2194470	NM_001374828.1(ARID1B):c.325_327del (p.Lys109del)	ARID1B, LOC115308161 +1 more (K109del +1 more)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 589473	NM_001374828.1(ARID1B):c.325A>C (p.Lys109Gln)	ARID1B, LOC115308161 +1 more (K26Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3129410	NM_001374828.1(ARID1B):c.326A>C (p.Lys109Thr)	ARID1B, LOC115308161 +1 more (K26T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2041606	NM_001374828.1(ARID1B):c.330G>T (p.Glu110Asp)	ARID1B, LOC115308161 +1 more (E110D +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 973149	NM_001374828.1(ARID1B):c.344C>G (p.Ala115Gly)	ARID1B, LOC115308161 (A115G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2779049	NM_001374828.1(ARID1B):c.346G>A (p.Ala116Thr)	ARID1B, LOC115308161 (A33T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1336655	NM_001374828.1(ARID1B):c.347C>T (p.Ala116Val)	ARID1B, LOC115308161 (A116V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 377123	NM_001374828.1(ARID1B):c.350T>C (p.Leu117Pro)	ARID1B, LOC115308161 (L117P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 872671	NM_001374828.1(ARID1B):c.352TCC[9] (p.Ser123_Ser124dup)	ARID1B, LOC115308161	Microsatellite (inframe_insertion)	not provided	GBenign/Likely benign
Select item 588042	NM_001374828.1(ARID1B):c.352TCC[8] (p.Ser124dup)	ARID1B, LOC115308161	Microsatellite (inframe_insertion)	not specified +3 more	GBenign/Likely benign
Select item 2768797	NM_001374828.1(ARID1B):c.352TCC[5] (p.Ser123_Ser124del)	ARID1B, LOC115308161	Microsatellite (inframe_indel +1 more)	not provided	GUncertain significance
Select item 210267	NM_001374828.1(ARID1B):c.352TCC[6] (p.Ser124del)	LOC115308161, ARID1B (S124del)	Microsatellite (inframe_deletion)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2780945	NM_001374828.1(ARID1B):c.353C>T (p.Ser118Phe)	ARID1B, LOC115308161 (S118F +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3057572	NM_001374828.1(ARID1B):c.360C>T (p.Ser120=)	ARID1B, LOC115308161	Single nucleotide variant (synonymous variant)	ARID1B-related disorder	GLikely benign
Select item 2075702	NM_001374828.1(ARID1B):c.365C>T (p.Ser122Phe)	ARID1B, LOC115308161 (S122F +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2696725	NM_001374828.1(ARID1B):c.368C>T (p.Ser123Phe)	ARID1B, LOC115308161 (S40F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2016017	NM_001374828.1(ARID1B):c.368C>G (p.Ser123Cys)	ARID1B, LOC115308161 (S123C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 434349	NM_001374828.1(ARID1B):c.369C>T (p.Ser123=)	ARID1B, LOC115308161	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2730551	NM_001374828.1(ARID1B):c.371C>T (p.Ser124Phe)	ARID1B, LOC115308161 (S41F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1196255	NM_001374828.1(ARID1B):c.373GCGGCGGCA[3] (p.Ala128_Ala130dup)	ARID1B, LOC115308161	Microsatellite (inframe_insertion)	not provided +1 more	GLikely benign
Select item 589481	NM_001374828.1(ARID1B):c.373GCGGCGGCA[1] (p.Ala128_Ala130del)	ARID1B, LOC115308161	Microsatellite (inframe_deletion)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 3129394	NM_001374828.1(ARID1B):c.374C>T (p.Ala125Val)	ARID1B, LOC115308161 (A42V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2751994	NM_001374828.1(ARID1B):c.374C>G (p.Ala125Gly)	ARID1B, LOC115308161 (A125G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957069	NM_001374828.1(ARID1B):c.378G>T (p.Ala126=)	ARID1B, LOC115308161	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234615	NM_001374828.1(ARID1B):c.379G>T (p.Ala127Ser)	ARID1B, LOC115308161 (A127S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2709086	NM_001374828.1(ARID1B):c.381A>C (p.Ala127=)	ARID1B, LOC115308161	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 589423	NM_001374828.1(ARID1B):c.381A>G (p.Ala127=)	ARID1B, LOC115308161	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 975341	NM_001374828.1(ARID1B):c.382G>A (p.Ala128Thr)	ARID1B, LOC115308161 (A128T)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 2851734	NM_001374828.1(ARID1B):c.387G>T (p.Ala129=)	ARID1B, LOC115308161	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2198796	NM_001374828.1(ARID1B):c.388G>T (p.Ala130Ser)	ARID1B, LOC115308161 (A47S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2802362	NM_001374828.1(ARID1B):c.389C>T (p.Ala130Val)	ARID1B, LOC115308161 (A47V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1984905	NM_001374828.1(ARID1B):c.395C>T (p.Ser132Phe)	ARID1B, LOC115308161 (S132F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2716004	NM_001374828.1(ARID1B):c.399CTC[1] (p.Ser136del)	ARID1B, LOC115308161 (S136del +1 more)	Microsatellite (inframe_indel +1 more)	not provided	GUncertain significance
Select item 1919365	NM_001374828.1(ARID1B):c.399C>G (p.Ser133=)	ARID1B, LOC115308161	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002486	NM_001374828.1(ARID1B):c.402C>T (p.Ser134=)	ARID1B, LOC115308161 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2045873	NM_001374828.1(ARID1B):c.403T>G (p.Ser135Ala)	ARID1B, LOC115308161 +1 more (S135A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1248351	NM_001374828.1(ARID1B):c.407C>T (p.Ser136Leu)	ARID1B, LOC115308161 +1 more (S136L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2966349	NM_001374828.1(ARID1B):c.408G>C (p.Ser136=)	ARID1B, LOC115308161 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3068962	NM_001374828.1(ARID1B):c.410G>C (p.Gly137Ala)	ARID1B, LOC115308161 +1 more (G137A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2793967	NM_001374828.1(ARID1B):c.416G>A (p.Gly139Asp)	ARID1B, LOC115308161 +1 more (G139D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 624273	NM_001374828.1(ARID1B):c.417C>G (p.Gly139=)	ARID1B, LOC115308161 +1 more	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2194746	NM_001374828.1(ARID1B):c.419C>T (p.Ser140Leu)	ARID1B, LOC115308161 +1 more (S140L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2657050	NM_001374828.1(ARID1B):c.421G>A (p.Ala141Thr)	ARID1B, LOC115308161 +1 more (A141T +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 1715480	NM_001374828.1(ARID1B):c.427G>C (p.Glu143Gln)	ARID1B, LOC115308161 +1 more (E143Q +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1216025	NM_001374828.1(ARID1B):c.428A>G (p.Glu143Gly)	ARID1B, LOC115308161 +1 more (E143G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1977292	NM_001374828.1(ARID1B):c.432G>C (p.Thr144=)	ARID1B, LOC115308161 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 210272	NM_001374828.1(ARID1B):c.446A>G (p.Asn149Ser)	ARID1B, LOC115308161 +1 more (N66S +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2153823	NM_001374828.1(ARID1B):c.456G>A (p.Leu152=)	ARID1B, LOC115308161 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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