LOC129997525[gene] - ClinVar

Search results

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	LOC129389719, LOC129389720 +866 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	LOC101929460, LOC102724087 +572 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	LOC129997640, LOC129997641 +564 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	ACAT2, AFDN +549 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	IGF2R, KIF25 +540 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 932623	NM_001374828.1(ARID1B):c.724C>T (p.His242Tyr)	ARID1B, LOC115308161 +1 more (H242Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	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 2032385	NM_001374828.1(ARID1B):c.729A>T (p.Gly243=)	ARID1B, LOC115308161 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 1719674	NM_001374828.1(ARID1B):c.740A>C (p.Asp247Ala)	ARID1B, LOC115308161 +1 more (D106A +2 more)	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 2419582	NM_001374828.1(ARID1B):c.749C>T (p.Ala250Val)	ARID1B, LOC115308161 +1 more (A109V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3017269	NM_001374828.1(ARID1B):c.750G>A (p.Ala250=)	ARID1B, LOC115308161 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2419583	NM_001374828.1(ARID1B):c.752G>C (p.Gly251Ala)	ARID1B, LOC115308161 +1 more (G110A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	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 3067386	NM_001374828.1(ARID1B):c.756C>T (p.Gly252=)	ARID1B, LOC115308161 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 2439191	NM_001374828.1(ARID1B):c.765C>A (p.Asp255Glu)	ARID1B, LOC115308161 +1 more (D114E +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Coffin-Siris syndrome 1	GUncertain significance
Select item 2439182	NM_001374828.1(ARID1B):c.765C>G (p.Asp255Glu)	ARID1B, LOC115308161 +1 more (D114E +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Coffin-Siris syndrome 1 +1 more	GUncertain significance
Select item 2187883	NM_001374828.1(ARID1B):c.768C>G (p.Pro256=)	ARID1B, LOC115308161 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
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 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 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 2895282	NM_001374828.1(ARID1B):c.794C>T (p.Pro265Leu)	ARID1B, LOC115308161 +1 more (P265L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1299055	NM_001374828.1(ARID1B):c.795G>T (p.Pro265=)	ARID1B, LOC115308161 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 975338	NM_001374828.1(ARID1B):c.799G>C (p.Asp267His)	ARID1B, LOC115308161 +1 more (D267H)	Single nucleotide variant (non-coding transcript variant +1 more)	Intellectual disability	GLikely benign
Select item 2719566	NM_001374828.1(ARID1B):c.802G>A (p.Glu268Lys)	ARID1B, LOC115308161 +1 more (E268K +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3339984	NM_001374828.1(ARID1B):c.803A>G (p.Glu268Gly)	ARID1B, LOC115308161 +1 more (E268G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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
Select item 3032044	NM_001374828.1(ARID1B):c.808G>A (p.Asp270Asn)	ARID1B, LOC115308161 +1 more (D129N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	ARID1B-related disorder	GUncertain significance
Select item 1579999	NM_001374828.1(ARID1B):c.813G>A (p.Ala271=)	ARID1B, LOC115308161 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1360018	NM_001374828.1(ARID1B):c.813_814delinsCT (p.Pro272Ser)	ARID1B, LOC115308161 +1 more (P272S)	Indel (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3006670	NM_001374828.1(ARID1B):c.819C>T (p.Pro273=)	ARID1B, LOC115308161 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2990952	NM_001374828.1(ARID1B):c.827_829del (p.Gly276del)	ARID1B, LOC115308161 +1 more (G193del +2 more)	Deletion (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1995352	NM_001374828.1(ARID1B):c.832C>T (p.Pro278Ser)	ARID1B, LOC115308161 +1 more (P195S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2195169	NM_001374828.1(ARID1B):c.833C>T (p.Pro278Leu)	LOC129997525, ARID1B +1 more (P278L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2201548	NM_001374828.1(ARID1B):c.849C>T (p.Tyr283=)	ARID1B, LOC129997525	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3257105	NM_001374828.1(ARID1B):c.858G>A (p.Pro286=)	ARID1B, LOC129997525	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 2663474	NM_001374828.1(ARID1B):c.876C>T (p.Gly292=)	ARID1B, LOC129997525	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3340979	NM_001374828.1(ARID1B):c.878C>T (p.Thr293Met)	ARID1B, LOC129997525 (T293M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2094147	NM_001374828.1(ARID1B):c.886CCG[3] (p.Pro297_Val298insPro)	ARID1B, LOC129997525	Microsatellite (inframe_indel +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1205686	NM_001374828.1(ARID1B):c.884A>C (p.Gln295Pro)	ARID1B, LOC129997525 (Q295P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 210307	NM_001374828.1(ARID1B):c.886C>T (p.Pro296Ser)	ARID1B, LOC129997525 (P213S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 434370	NM_001374828.1(ARID1B):c.889C>T (p.Pro297Ser)	ARID1B, LOC129997525 (P214S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1703287	NM_001374828.1(ARID1B):c.890C>T (p.Pro297Leu)	ARID1B, LOC129997525 (P297L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1407026	NM_001374828.1(ARID1B):c.891G>A (p.Pro297=)	ARID1B, LOC129997525	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3014204	NM_001374828.1(ARID1B):c.894C>T (p.Val298=)	ARID1B, LOC129997525	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1032090	NM_001374828.1(ARID1B):c.895G>A (p.Ala299Thr)	ARID1B, LOC129997525 (A299T)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	GUncertain significance
Select item 2037332	NM_001374828.1(ARID1B):c.897C>T (p.Ala299=)	ARID1B, LOC129997525	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3052126	NM_001374828.1(ARID1B):c.900G>C (p.Val300=)	ARID1B, LOC129997525	Single nucleotide variant (synonymous variant)	ARID1B-related disorder	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 3239148	NM_001374828.1(ARID1B):c.903C>G (p.Pro301=)	ARID1B, LOC129997525	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3016108	NM_001374828.1(ARID1B):c.906G>C (p.Gly302=)	ARID1B, LOC129997525	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1443142	NM_001374828.1(ARID1B):c.907GGC[5] (p.Gly306dup)	ARID1B, LOC129997525	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2048468	NM_001374828.1(ARID1B):c.907GGC[3] (p.Gly306del)	ARID1B, LOC129997525 (G223del +2 more)	Microsatellite (inframe_indel +1 more)	not provided	GLikely benign
Select item 2969509	NM_001374828.1(ARID1B):c.908_909delinsAT (p.Gly303Asp)	ARID1B, LOC129997525 (G303D +2 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 1713678	NM_001374828.1(ARID1B):c.910G>C (p.Gly304Arg)	LOC129997525, ARID1B (G163R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 746360	NM_001374828.1(ARID1B):c.912C>T (p.Gly304=)	ARID1B, LOC129997525	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3045815	NM_001374828.1(ARID1B):c.918C>A (p.Gly306=)	ARID1B, LOC129997525	Single nucleotide variant (synonymous variant)	ARID1B-related disorder	GLikely benign
Select item 2819503	NM_001374828.1(ARID1B):c.920C>T (p.Pro307Leu)	ARID1B, LOC129997525 (P307L +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2715345	NM_001374828.1(ARID1B):c.923C>G (p.Ala308Gly)	ARID1B, LOC129997525 (A225G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1960465	NM_001374828.1(ARID1B):c.924G>A (p.Ala308=)	ARID1B, LOC129997525	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2725866	NM_001374828.1(ARID1B):c.927C>A (p.Ala309=)	ARID1B, LOC129997525	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2657053	NM_001374828.1(ARID1B):c.929T>C (p.Val310Ala)	ARID1B, LOC129997525 (V169A +2 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1 +1 more	GBenign/Likely benign
Select item 2439172	NM_001374828.1(ARID1B):c.932C>T (p.Pro311Leu)	ARID1B, LOC129997525 (P170L +2 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	GUncertain significance
Select item 2709733	NM_001374828.1(ARID1B):c.933G>A (p.Pro311=)	ARID1B, LOC129997525	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2722932	NM_001374828.1(ARID1B):c.941A>C (p.Asn314Thr)	ARID1B, LOC129997525 (N173T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1198084	NM_001374828.1(ARID1B):c.947A>C (p.Tyr316Ser)	ARID1B, LOC129997525 (Y316S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3065129	NM_001374828.1(ARID1B):c.951T>G (p.Tyr317Ter)	ARID1B, LOC129997525 (Y176* +2 more)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 1	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 95