"Ambry Genetics"[submitter] AND "ARID1B"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 589129	NM_001374828.1(ARID1B):c.266_274dup (p.Ala91_Ala92insGlyAlaAla)	ARID1B, LOC115308161 +1 more	Duplication (inframe_insertion)	Inborn genetic diseases +2 more	GLikely benign
Select item 3314387	NM_001374828.1(ARID1B):c.273_281del (p.Ala92_Ala94del)	ARID1B, LOC115308161 +1 more	Deletion (inframe_deletion)	Inborn genetic diseases	GLikely benign
Select item 1789270	NM_001374828.1(ARID1B):c.271G>C (p.Ala91Pro)	ARID1B, LOC115308161 +1 more (A8P +1 more)	Single nucleotide variant (missense variant)	not provided +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)	Inborn genetic diseases +2 more	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 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 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 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 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 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 589423	NM_001374828.1(ARID1B):c.381A>G (p.Ala127=)	ARID1B, LOC115308161	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
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 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 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 2207407	NM_001374828.1(ARID1B):c.493C>A (p.Gln165Lys)	ARID1B, LOC115308161 (Q165K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1791596	NM_001374828.1(ARID1B):c.494A>C (p.Gln165Pro)	ARID1B, LOC115308161 (Q24P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1792503	NM_001374828.1(ARID1B):c.500A>G (p.His167Arg)	ARID1B, LOC115308161 (H167R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely 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 1794303	NM_001374828.1(ARID1B):c.513C>T (p.His171=)	ARID1B, LOC115308161	Single nucleotide variant (synonymous variant)	not provided +1 more	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 1727639	NM_001374828.1(ARID1B):c.550CAC[3] (p.His187del)	ARID1B, LOC115308161 (H187del)	Microsatellite (inframe_indel +1 more)	Inborn genetic diseases	GLikely benign
Select item 589306	NM_001374828.1(ARID1B):c.552C>T (p.His184=)	ARID1B, LOC115308161	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 589577	NM_001374828.1(ARID1B):c.588_614del (p.Phe196_Gln205delinsLeu)	ARID1B, LOC115308161	Deletion (non-coding transcript variant +1 more)	Inborn genetic diseases	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 2258193	NM_001374828.1(ARID1B):c.591GCA[1] (p.Gln209_Gln214del)	ARID1B, LOC115308161	Microsatellite (inframe_indel +2 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1670764	NM_001374828.1(ARID1B):c.591GCA[2] (p.Gln210_Gln214del)	ARID1B, LOC115308161	Microsatellite (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GLikely 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 588319	NM_001374828.1(ARID1B):c.591GCA[5] (p.Gln213_Gln214del)	LOC115308161, ARID1B	Microsatellite (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 434350	NM_001374828.1(ARID1B):c.612_632del (p.Gln208_Gln214del)	ARID1B, LOC115308161	Deletion (inframe_deletion +1 more)	not specified +2 more	GLikely benign
Select item 588830	NM_001374828.1(ARID1B):c.612_629del (p.Gln209_Gln214del)	ARID1B, LOC115308161	Deletion (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2308673	NM_001374828.1(ARID1B):c.612_623dup (p.Gln214_His215insGlnGlnGlnGln)	ARID1B, LOC115308161	Duplication (inframe_indel +2 more)	Inborn genetic diseases	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 1733407	NM_001374828.1(ARID1B):c.612_617dup (p.Gln214_His215insGlnGln)	ARID1B, LOC115308161	Duplication (inframe_indel +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1733406	NM_001374828.1(ARID1B):c.612_614del (p.Gln214del)	ARID1B, LOC115308161 (Q73del +2 more)	Deletion (non-coding transcript variant +2 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1734288	NM_001374828.1(ARID1B):c.615GCA[12] (p.Gln214_His215insGlnGlnGlnGlnGln)	ARID1B, LOC115308161	Microsatellite (inframe_indel +2 more)	Inborn genetic diseases	GLikely benign
Select item 589511	NM_001374828.1(ARID1B):c.615GCA[11] (p.Gln211_Gln214dup)	ARID1B, LOC115308161	Microsatellite (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 210288	NM_001374828.1(ARID1B):c.615GCA[6] (p.Gln214del)	ARID1B, LOC115308161 (Q214del)	Microsatellite (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1736194	NM_001374828.1(ARID1B):c.641_642insGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAACAGCA (p.Gln214_His215insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)	ARID1B, LOC115308161	Microsatellite (frameshift variant +2 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1734042	NM_001374828.1(ARID1B):c.618G>A (p.Gln206=)	ARID1B, LOC115308161	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1735774	NM_001374828.1(ARID1B):c.636A>G (p.Gln212=)	ARID1B, LOC115308161	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1736107	NM_001374828.1(ARID1B):c.639G>A (p.Gln213=)	ARID1B, LOC115308161	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1738080	NM_001374828.1(ARID1B):c.656ACA[2] (p.Asn221del)	ARID1B, LOC115308161 (N221del)	Microsatellite (inframe_indel +2 more)	not provided +1 more	GBenign/Likely benign
Select item 2748283	NM_001374828.1(ARID1B):c.661A>G (p.Asn221Asp)	ARID1B, LOC115308161 (N138D +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 2459551	NM_001374828.1(ARID1B):c.665G>T (p.Ser222Ile)	ARID1B, LOC115308161 (S139I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 588227	NM_001374828.1(ARID1B):c.666C>T (p.Ser222=)	ARID1B, LOC115308161	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1740699	NM_001374828.1(ARID1B):c.693T>G (p.Pro231=)	ARID1B, LOC115308161	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2253918	NM_001374828.1(ARID1B):c.710T>G (p.Met237Arg)	ARID1B, LOC115308161 (M96R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2258990	NM_001374828.1(ARID1B):c.725A>G (p.His242Arg)	ARID1B, LOC115308161 +1 more (H101R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2552431	NM_001374828.1(ARID1B):c.733G>A (p.Ala245Thr)	ARID1B, LOC115308161 +1 more (A245T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1350417	NM_001374828.1(ARID1B):c.752G>A (p.Gly251Asp)	ARID1B, LOC115308161 +1 more (G251D)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 589623	NM_001374828.1(ARID1B):c.770C>T (p.Pro257Leu)	ARID1B, LOC115308161 +1 more (P174L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2339084	NM_001374828.1(ARID1B):c.772G>T (p.Gly258Cys)	ARID1B, LOC115308161 +1 more (G258C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1747356	NM_001374828.1(ARID1B):c.789C>T (p.Ser263=)	ARID1B, LOC115308161 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 3129405	NM_001374828.1(ARID1B):c.793C>T (p.Pro265Ser)	ARID1B, LOC115308161 +1 more (P182S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2265732	NM_001374828.1(ARID1B):c.796G>A (p.Gly266Ser)	ARID1B, LOC115308161 +1 more (G125S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 3129406	NM_001374828.1(ARID1B):c.797G>T (p.Gly266Val)	LOC115308161, ARID1B +1 more (G125V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1230590	NM_001374828.1(ARID1B):c.852G>A (p.Glu284=)	ARID1B, LOC129997525	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1915783	NM_001374828.1(ARID1B):c.865G>A (p.Gly289Ser)	ARID1B, LOC129997525 (G148S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1422397	NM_001374828.1(ARID1B):c.869C>A (p.Ala290Asp)	ARID1B, LOC129997525 (A290D)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1752882	NM_001374828.1(ARID1B):c.881A>C (p.Gln294Pro)	ARID1B, LOC129997525 (Q211P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382542	NM_001374828.1(ARID1B):c.893T>G (p.Val298Gly)	ARID1B, LOC129997525 (V215G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1753806	NM_001374828.1(ARID1B):c.897C>A (p.Ala299=)	ARID1B, LOC129997525	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 588872	NM_001374828.1(ARID1B):c.901C>T (p.Pro301Ser)	ARID1B, LOC129997525 (P218S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 445563	NM_001374828.1(ARID1B):c.901C>G (p.Pro301Ala)	ARID1B, LOC129997525 (P301A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1754191	NM_001374828.1(ARID1B):c.904G>A (p.Gly302Arg)	ARID1B, LOC129997525 (G302R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 434368	NM_001374828.1(ARID1B):c.927C>T (p.Ala309=)	ARID1B, LOC129997525	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 444704	NM_001374828.1(ARID1B):c.928_929delinsCC (p.Val310Pro)	ARID1B, LOC129997525 (V227P +1 more)	Indel (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 444703	NM_001374828.1(ARID1B):c.928G>C (p.Val310Leu)	ARID1B, LOC129997525 (V310L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 434351	NM_001374828.1(ARID1B):c.954C>T (p.Gly318=)	ARID1B	Single nucleotide variant (synonymous variant)	Coffin-Siris syndrome 1 +3 more	GBenign/Likely benign
Select item 444705	NM_001374828.1(ARID1B):c.961G>T (p.Ala321Ser)	ARID1B (A321S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 434352	NM_001374828.1(ARID1B):c.963C>T (p.Ala321=)	ARID1B	Single nucleotide variant (synonymous variant)	Coffin-Siris syndrome 1 +3 more	GBenign/Likely benign
Select item 521684	NM_001374828.1(ARID1B):c.966_979delinsG (p.Ala323fs)	ARID1B (A323fs)	Indel (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1267132	NM_001374828.1(ARID1B):c.980C>G (p.Pro327Arg)	ARID1B (P327R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 210310	NM_001374828.1(ARID1B):c.985G>A (p.Gly329Ser)	ARID1B (G246S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 1760988	NM_001374828.1(ARID1B):c.1036A>T (p.Met346Leu)	ARID1B (M205L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1761950	NM_001374828.1(ARID1B):c.1057T>G (p.Ser353Ala)	ARID1B (S353A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1762477	NM_001374828.1(ARID1B):c.1058CCG[4] (p.Ala357del)	ARID1B (A357del)	Microsatellite (inframe_indel +1 more)	Inborn genetic diseases	GBenign
Select item 2542992	NM_001374828.1(ARID1B):c.1061C>T (p.Ala354Val)	ARID1B (A271V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1492620	NM_001374828.1(ARID1B):c.1075G>C (p.Ala359Pro)	ARID1B (A359P)	Single nucleotide variant (missense variant)	ARID1B-related disorder +2 more	GUncertain significance
Select item 1762720	NM_001374828.1(ARID1B):c.1076C>T (p.Ala359Val)	ARID1B (A276V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3314416	NM_001374828.1(ARID1B):c.1079C>T (p.Pro360Leu)	ARID1B (P360L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1179253	NM_001374828.1(ARID1B):c.1095C>G (p.Pro365=)	ARID1B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1193699	NM_001374828.1(ARID1B):c.1112A>G (p.Glu371Gly)	ARID1B (E371G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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