"GeneDx"[submitter] AND "LOC115308161"[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	ACAT2, AFDN +549 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 1199905	NM_001374828.1(ARID1B):c.19GCG[11] (p.Ala12_Ala14dup)	ARID1B, LOC115308161 +1 more	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 1712785	NM_001374828.1(ARID1B):c.256C>T (p.His86Tyr)	LOC115308161, LOC129997523 +1 more (H3Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363363	NM_001374828.1(ARID1B):c.262G>A (p.Ala88Thr)	ARID1B, LOC115308161 +1 more (A88T)	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 126337	NM_001374828.1(ARID1B):c.318G>A (p.Ala106=)	ARID1B, LOC115308161 +1 more	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 588042	NM_001374828.1(ARID1B):c.352TCC[8] (p.Ser124_Ala125insSer)	ARID1B, LOC115308161	Microsatellite (inframe_insertion)	Inborn genetic diseases +2 more	GBenign
Select item 210267	NM_001374828.1(ARID1B):c.352TCC[6] (p.Ser124del)	ARID1B, LOC115308161 (S124del)	Microsatellite (inframe_deletion)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1196255	NM_001374828.1(ARID1B):c.373GCGGCGGCA[3] (p.Ala130_Ser131insAlaAlaAla)	ARID1B, LOC115308161	Microsatellite (inframe_insertion)	not provided	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 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 624273	NM_001374828.1(ARID1B):c.417C>G (p.Gly139=)	ARID1B, LOC115308161 +1 more	Single nucleotide variant (synonymous variant)	Coffin-Siris syndrome 1 +2 more	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 210272	NM_001374828.1(ARID1B):c.446A>G (p.Asn149Ser)	ARID1B, LOC115308161 +1 more (N66S +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 3367253	NM_001374828.1(ARID1B):c.495_512dup (p.His170_His171insGlnGlnHisHisHisHis)	ARID1B, LOC115308161	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 3378350	NM_001374828.1(ARID1B):c.506ACCACCACCATGCCCACCACC[4] (p.His182_Leu183insHisHisHisHisAlaHisHisHisHisHisHisAlaHisHis)	ARID1B, LOC115308161	Microsatellite	not provided	GUncertain significance
Select item 1283145	NM_001374828.1(ARID1B):c.501CCA[6] (p.His172_Ala173insHis)	ARID1B, LOC115308161	Microsatellite (inframe_insertion)	not provided	GConflicting classifications of pathogenicity
Select item 589067	NM_001374828.1(ARID1B):c.506ACCACCACCATGCCCACCACC[1] (p.169HHHHAHH[1])	ARID1B, LOC115308161	Microsatellite (inframe_deletion)	not provided +1 more	GBenign/Likely benign
Select item 588419	NM_001374828.1(ARID1B):c.501CCA[4] (p.His172del)	ARID1B, LOC115308161 (H172del)	Microsatellite (inframe_deletion)	not provided +1 more	GBenign/Likely benign
Select item 1254707	NM_001374828.1(ARID1B):c.501C>G (p.His167Gln)	LOC115308161, ARID1B (H167Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1254349	NM_001374828.1(ARID1B):c.514C>T (p.His172Tyr)	ARID1B, LOC115308161 (H172Y)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1208697	NM_001374828.1(ARID1B):c.515A>C (p.His172Pro)	ARID1B, LOC115308161 (H172P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 588197	NM_001374828.1(ARID1B):c.519CCA[5] (p.His179del)	ARID1B, LOC115308161 (H179del)	Microsatellite (inframe_deletion)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1809836	NM_001374828.1(ARID1B):c.528C>A (p.His176Gln)	ARID1B, LOC115308161 (H176Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1245708	NM_001374828.1(ARID1B):c.535C>A (p.His179Asn)	ARID1B, LOC115308161 (H179N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1190361	NM_001374828.1(ARID1B):c.565C>G (p.Leu189Val)	ARID1B, LOC115308161 (L189V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502015	NM_001374828.1(ARID1B):c.571C>G (p.Gln191Glu)	ARID1B, LOC115308161 (Q108E +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2439186	NM_001374828.1(ARID1B):c.591GCA[12] (p.Gln214_His215insGlnGlnGlnGlnGln)	ARID1B, LOC115308161	Microsatellite (inframe_indel +2 more)	not provided +1 more	GUncertain significance
Select item 1810734	NM_001374828.1(ARID1B):c.591GCA[10] (p.Gln214_His215insGlnGlnGln)	ARID1B, LOC115308161	Microsatellite (inframe_indel +2 more)	not provided	GLikely benign
Select item 589183	NM_001374828.1(ARID1B):c.594GCAGCAGCAGCAGCAGCAACAGCA[3] (p.Gln214_His215insGlnGlnGlnGlnGlnGlnGlnGln)	ARID1B, LOC115308161	Microsatellite (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 210284	NM_001374828.1(ARID1B):c.591GCA[9] (p.Gln214_His215insGlnGln)	ARID1B, LOC115308161	Microsatellite (inframe_insertion +1 more)	not provided +3 more	GBenign/Likely benign
Select item 126327	NM_001374828.1(ARID1B):c.591GCA[8] (p.Gln214_His215insGln)	ARID1B, LOC115308161	Microsatellite (non-coding transcript variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 975342	NM_001374828.1(ARID1B):c.591GCA[4] (p.Gln212_Gln214del)	ARID1B, LOC115308161	Microsatellite (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 591903	NM_001374828.1(ARID1B):c.594GCAGCAGCAGCAGCAGCAACAGCA[1] (p.Gln207_Gln214del)	LOC115308161, ARID1B	Microsatellite (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 589060	NM_001374828.1(ARID1B):c.591GCA[6] (p.Gln214del)	ARID1B, LOC115308161 (Q214del)	Microsatellite (inframe_deletion +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 588536	NM_001374828.1(ARID1B):c.609_635del (p.Gln206_Gln214del)	ARID1B, LOC115308161	Deletion (inframe_deletion +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 3340656	NM_001374828.1(ARID1B):c.595C>T (p.Gln199Ter)	ARID1B, LOC115308161 (Q199*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 376846	NM_001374828.1(ARID1B):c.612_626del (p.Gln210_Gln214del)	ARID1B, LOC115308161	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 210285	NM_001374828.1(ARID1B):c.612_620del (p.Gln212_Gln214del)	ARID1B, LOC115308161	Deletion (inframe_deletion +1 more)	not specified +2 more	GLikely benign
Select item 588939	NM_001374828.1(ARID1B):c.615GCA[10] (p.Gln214_His215insGlnGlnGln)	ARID1B, LOC115308161	Microsatellite (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 210289	NM_001374828.1(ARID1B):c.615GCA[8] (p.Gln214_His215insGln)	ARID1B, LOC115308161	Microsatellite (non-coding transcript variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 126329	NM_001374828.1(ARID1B):c.615GCA[9] (p.Gln214_His215insGlnGln)	ARID1B, LOC115308161	Microsatellite (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 126328	NM_001374828.1(ARID1B):c.612A>G (p.Gln204=)	ARID1B, LOC115308161	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 1220153	NM_001374828.1(ARID1B):c.615GCA[2] (p.Gln210_Gln214del)	ARID1B, LOC115308161	Microsatellite (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 589319	NM_001374828.1(ARID1B):c.615GCA[5] (p.Gln213_Gln214del)	ARID1B, LOC115308161	Microsatellite (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 1216606	NM_001374828.1(ARID1B):c.641_642insGCAGCACCAGCAGCAGCAACAGCA (p.Gln214_His215insGlnHisGlnGlnGlnGlnGlnGln)	ARID1B, LOC115308161	Microsatellite (frameshift variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 1529480	NM_001374828.1(ARID1B):c.633_641dup (p.Gln214_His215insGlnGlnGln)	ARID1B, LOC115308161	Duplication (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1341615	NM_001374828.1(ARID1B):c.633GCAACA[3] (p.Gln214_His215insGlnGln)	ARID1B, LOC115308161	Microsatellite (non-coding transcript variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 3372048	NM_001374828.1(ARID1B):c.633G>T (p.Gln211His)	ARID1B, LOC115308161 (Q211H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2192312	NM_001374828.1(ARID1B):c.677_685dup (p.Gly228_Gly229insAlaGlyGly)	ARID1B, LOC115308161	Duplication (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1328745	NM_001374828.1(ARID1B):c.688G>A (p.Ala230Thr)	ARID1B, LOC115308161 (A230T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1272746	NM_001374828.1(ARID1B):c.714G>A (p.Glu238=)	ARID1B, LOC115308161	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3365306	NM_001374828.1(ARID1B):c.743G>A (p.Ser248Asn)	ARID1B, LOC115308161 +1 more (S248N)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3342606	NM_001374828.1(ARID1B):c.770dup (p.Pro260fs)	ARID1B, LOC115308161 +1 more (P260fs)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 3367239	NM_001374828.1(ARID1B):c.784C>G (p.Leu262Val)	ARID1B, LOC115308161 +1 more (L262V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3343821	NM_001374828.1(ARID1B):c.805_813del (p.Asp269_Ala271del)	ARID1B, LOC115308161 +1 more	Deletion (non-coding transcript variant +1 more)	not provided	GUncertain significance

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Items: 60