ClinVar for Gene (Select 84456) - ClinVar

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Links from Gene

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3289823	NM_032438.4(L3MBTL3):c.1774A>G (p.Lys592Glu)	L3MBTL3 (K567E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289822	NM_032438.4(L3MBTL3):c.1991A>G (p.Gln664Arg)	L3MBTL3 (Q639R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289821	NM_032438.4(L3MBTL3):c.571G>A (p.Asp191Asn)	L3MBTL3 (D191N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289818	NM_032438.4(L3MBTL3):c.1987G>A (p.Val663Ile)	L3MBTL3 (V638I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242313	GRCh37/hg19 6q22.33-23.2(chr6:129969121-132499298)x1	AKAP7, ARG1 +13 more	Copy number loss	not provided	GUncertain significance
Select item 3117281	NM_032438.4(L3MBTL3):c.935A>G (p.Asp312Gly)	L3MBTL3 (D312G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117280	NM_032438.4(L3MBTL3):c.914A>G (p.Tyr305Cys)	L3MBTL3 (Y305C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117279	NM_032438.4(L3MBTL3):c.646G>T (p.Asp216Tyr)	L3MBTL3 (D191Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117278	NM_032438.4(L3MBTL3):c.26G>A (p.Ser9Asn)	L3MBTL3 (S9N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117277	NM_032438.4(L3MBTL3):c.1607C>T (p.Thr536Ile)	L3MBTL3 (T536I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117276	NM_032438.4(L3MBTL3):c.1435A>G (p.Met479Val)	L3MBTL3 (M454V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117275	NM_032438.4(L3MBTL3):c.1297A>G (p.Arg433Gly)	L3MBTL3 (R433G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117274	NM_032438.4(L3MBTL3):c.1106C>T (p.Ser369Leu)	L3MBTL3 (S344L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117273	NM_032438.4(L3MBTL3):c.1012G>C (p.Glu338Gln)	L3MBTL3 (E313Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 3062896	GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	AKAP7, AMD1 +87 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685213	GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1	AHI1, AKAP7 +69 more	Copy number loss	not provided	GPathogenic
Select item 2620292	NM_032438.4(L3MBTL3):c.573T>G (p.Asp191Glu)	L3MBTL3 (D166E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589006	NM_032438.4(L3MBTL3):c.1930A>C (p.Thr644Pro)	L3MBTL3 (T619P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 2548346	NM_032438.4(L3MBTL3):c.617C>T (p.Ser206Leu)	L3MBTL3 (S181L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542263	NM_032438.4(L3MBTL3):c.2092G>T (p.Ala698Ser)	L3MBTL3 (A673S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535514	NM_032438.4(L3MBTL3):c.740C>T (p.Pro247Leu)	L3MBTL3 (P247L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532432	NM_032438.4(L3MBTL3):c.1411C>T (p.Pro471Ser)	L3MBTL3 (P446S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520092	NM_032438.4(L3MBTL3):c.650C>T (p.Ser217Leu)	L3MBTL3 (S192L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516787	NM_032438.4(L3MBTL3):c.976G>A (p.Gly326Ser)	L3MBTL3 (G301S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485229	NM_032438.4(L3MBTL3):c.590A>G (p.Lys197Arg)	L3MBTL3 (K172R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483645	NM_032438.4(L3MBTL3):c.419G>A (p.Ser140Asn)	L3MBTL3 (S115N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479920	NM_032438.4(L3MBTL3):c.1447G>A (p.Val483Ile)	L3MBTL3 (V458I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479627	NM_032438.4(L3MBTL3):c.2243T>C (p.Ile748Thr)	L3MBTL3 (I748T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469158	NM_032438.4(L3MBTL3):c.1780C>T (p.Arg594Cys)	L3MBTL3 (R569C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461018	NM_032438.4(L3MBTL3):c.485A>G (p.Asn162Ser)	L3MBTL3 (N137S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384349	NM_032438.4(L3MBTL3):c.26G>C (p.Ser9Thr)	L3MBTL3 (S9T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368863	NM_032438.4(L3MBTL3):c.754A>C (p.Lys252Gln)	L3MBTL3 (K227Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363009	NM_032438.4(L3MBTL3):c.728C>T (p.Ala243Val)	L3MBTL3 (A218V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360929	NM_032438.4(L3MBTL3):c.1162A>G (p.Ile388Val)	L3MBTL3 (I363V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342289	NM_032438.4(L3MBTL3):c.1468A>G (p.Met490Val)	L3MBTL3 (M465V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2321497	NM_032438.4(L3MBTL3):c.1253C>T (p.Ala418Val)	L3MBTL3 (A418V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316955	NM_032438.4(L3MBTL3):c.1366G>A (p.Glu456Lys)	L3MBTL3 (E431K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303936	NM_032438.4(L3MBTL3):c.512G>A (p.Arg171Gln)	L3MBTL3 (R146Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303844	NM_032438.4(L3MBTL3):c.1429A>G (p.Lys477Glu)	L3MBTL3 (K452E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302659	NM_032438.4(L3MBTL3):c.718G>A (p.Glu240Lys)	L3MBTL3 (E240K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298057	NM_032438.4(L3MBTL3):c.412T>G (p.Tyr138Asp)	L3MBTL3 (Y113D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297660	NM_032438.4(L3MBTL3):c.2057G>A (p.Arg686His)	L3MBTL3 (R661H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286382	NM_032438.4(L3MBTL3):c.1781G>A (p.Arg594His)	L3MBTL3 (R569H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257420	NM_032438.4(L3MBTL3):c.1547A>G (p.Tyr516Cys)	L3MBTL3 (Y491C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250303	NM_032438.4(L3MBTL3):c.817G>A (p.Val273Met)	L3MBTL3 (V248M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241045	NM_032438.4(L3MBTL3):c.666G>T (p.Gln222His)	L3MBTL3 (Q197H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 1527288	GRCh37/hg19 6q22.33-23.1(chr6:129779876-130603406)	ARHGAP18, L3MBTL3 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1266479	NM_032438.4(L3MBTL3):c.548C>A (p.Thr183Asn)	L3MBTL3 (T158N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 771405	NM_032438.4(L3MBTL3):c.840G>A (p.Val280=)	L3MBTL3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768109	NM_032438.4(L3MBTL3):c.1092+3A>G	L3MBTL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 732722	NM_032438.4(L3MBTL3):c.583-10C>A	L3MBTL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 625707	GRCh37/hg19 6q22.33-23.2(chr6:129513837-132618991)	ARG1, AKAP7 +15 more	Copy number loss	not provided	GLikely pathogenic
Select item 523159	GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1	EPB41L2, FABP7 +73 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442817	GRCh37/hg19 6q22.31-23.2(chr6:122612641-131564463)x1	AKAP7, ARHGAP18 +32 more	Copy number loss	See cases	GPathogenic
Select item 155166	GRCh38/hg38 6q23.1(chr6:130040763-130549075)x3	L3MBTL3, LOC126859785 +13 more	Copy number gain	See cases	GUncertain significance
Select item 154738	GRCh38/hg38 6q22.32-23.2(chr6:126494533-132497855)x1	AKAP7, ARG1 +127 more	Copy number loss	See cases	GLikely pathogenic
Select item 154269	GRCh38/hg38 6q22.33-23.2(chr6:129191313-132131620)x1	AKAP7, ARG1 +87 more	Copy number loss	See cases	GLikely pathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 92018	NM_032438.4(L3MBTL3):c.1525T>C (p.Phe509Leu)	L3MBTL3 (F509L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 65