ClinVar for Gene (Select 7430) - ClinVar

Links from Gene

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
Select item 3091379	NM_001111077.2(EZR):c.940C>T (p.His314Tyr)	EZR (H314Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091377	NM_001111077.2(EZR):c.650G>T (p.Trp217Leu)	EZR (W217L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091376	NM_001111077.2(EZR):c.460C>T (p.Pro154Ser)	EZR, LOC126859852 (P154S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091375	NM_001111077.2(EZR):c.254A>C (p.Tyr85Ser)	EZR (Y85S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091373	NM_001111077.2(EZR):c.1655T>A (p.Ile552Asn)	EZR (I552N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091372	NM_001111077.2(EZR):c.1654A>G (p.Ile552Val)	EZR (I552V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091371	NM_001111077.2(EZR):c.1625G>A (p.Arg542Gln)	EZR (R542Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091370	NM_001111077.2(EZR):c.1283T>C (p.Ile428Thr)	EZR (I428T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060346	NM_001111077.2(EZR):c.1090+8G>A	EZR	Single nucleotide variant (intron variant)	EZR-related disorder	GBenign
Select item 3058735	NM_001111077.2(EZR):c.120G>C (p.Arg40=)	EZR	Single nucleotide variant (synonymous variant)	EZR-related disorder	GLikely benign
Select item 3058021	NM_001111077.2(EZR):c.1302G>A (p.Ala434=)	EZR	Single nucleotide variant (synonymous variant)	EZR-related disorder	GLikely benign
Select item 3057389	NM_001111077.2(EZR):c.552-6A>G	EZR	Single nucleotide variant (intron variant)	EZR-related disorder	GLikely benign
Select item 3055436	NM_001111077.2(EZR):c.1345-5C>T	EZR	Single nucleotide variant (intron variant)	EZR-related disorder	GBenign
Select item 3053752	NM_001111077.2(EZR):c.441C>G (p.Leu147=)	EZR, LOC126859852	Single nucleotide variant (synonymous variant)	EZR-related disorder	GLikely benign
Select item 3049769	NM_001111077.2(EZR):c.1215A>G (p.Arg405=)	EZR	Single nucleotide variant (synonymous variant)	EZR-related disorder	GLikely benign
Select item 3047722	NM_001111077.2(EZR):c.1050G>A (p.Arg350=)	EZR	Single nucleotide variant (synonymous variant)	EZR-related disorder	GLikely benign
Select item 3033164	NM_001111077.2(EZR):c.17A>G (p.Asn6Ser)	EZR (N6S)	Single nucleotide variant (missense variant)	EZR-related disorder	GBenign
Select item 2663766	NC_000006.12:g.(?_150381239)_(159553952_?)del	LOC129997480, LOC129997522 +288 more	Deletion	Chromosome 6q24-q25 deletion syndrome	GPathogenic
Select item 2657093	NM_001111077.2(EZR):c.900C>T (p.Ile300=)	EZR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2635426	NM_001111077.2(EZR):c.1636A>G (p.Lys546Glu)	EZR (K546E)	Single nucleotide variant (missense variant)	EZR-related disorder	GUncertain significance
Select item 2635097	NM_001111077.2(EZR):c.1639_1640delinsGA (p.Arg547Glu)	EZR (R547E)	Indel (missense variant)	EZR-related disorder	GUncertain significance
Select item 2612873	NM_001111077.2(EZR):c.1701G>A (p.Thr567=)	EZR	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2571271	GRCh37/hg19 6q25.3-27(chr6:159006336-170713678)x3	ACAT2, AFDN +54 more	Copy number gain	not provided	GUncertain significance
Select item 2549910	NM_001111077.2(EZR):c.355C>G (p.Pro119Ala)	EZR (P119A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535332	NM_001111077.2(EZR):c.23G>C (p.Arg8Pro)	EZR (R8P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517286	NM_001111077.2(EZR):c.1573G>A (p.Glu525Lys)	EZR (E525K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495538	NM_001111077.2(EZR):c.1684C>T (p.Arg562Trp)	EZR (R562W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486160	NM_001111077.2(EZR):c.497A>G (p.Asp166Gly)	EZR, LOC126859852 (D166G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467541	NM_001111077.2(EZR):c.254A>G (p.Tyr85Cys)	EZR (Y85C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427078	NC_000006.11:g.(?_158532398)_(162868359_?)del	ACAT2, AGPAT4 +26 more	Deletion	not provided	GPathogenic
Select item 2342693	NM_001111077.2(EZR):c.1606A>G (p.Ser536Gly)	EZR (S536G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338894	NM_001111077.2(EZR):c.1352A>C (p.Glu451Ala)	EZR (E451A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312039	NM_001111077.2(EZR):c.929G>A (p.Arg310Gln)	EZR (R310Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297888	NM_001111077.2(EZR):c.1586G>A (p.Arg529Gln)	EZR (R529Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276247	NM_001111077.2(EZR):c.808T>C (p.Tyr270His)	EZR (Y270H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275766	NM_001111077.2(EZR):c.1099G>A (p.Glu367Lys)	EZR (E367K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268008	NM_001111077.2(EZR):c.1193G>A (p.Arg398Gln)	EZR (R398Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254017	NM_001111077.2(EZR):c.424C>T (p.His142Tyr)	EZR, LOC126859852 (H142Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248333	NM_001111077.2(EZR):c.1010A>G (p.Lys337Arg)	EZR (K337R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206349	NM_001111077.2(EZR):c.758A>G (p.Lys253Arg)	EZR (K253R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708184	GRCh37/hg19 6q25.3-27(chr6:157318401-165233548)x1	MAS1, MRPL18 +33 more	Copy number loss	See cases	GPathogenic
Select item 1703663	GRCh37/hg19 6q25.3-27(chr6:159121459-170919482)	ACAT2, AFDN +55 more	Copy number loss	Hydrocephalus	GPathogenic
Select item 1527317	GRCh37/hg19 6q25.3(chr6:158392800-159229197)	DYNLT1, EZR +6 more	Copy number gain	not specified	GUncertain significance
Select item 1527310	GRCh37/hg19 6q25.3(chr6:155525920-159889169)	ARID1B, CLDN20 +18 more	Copy number loss	not specified	GPathogenic
Select item 1527308	GRCh37/hg19 6q25.2-26(chr6:153207930-164322346)	ACAT2, AGPAT4 +44 more	Copy number loss	not specified	GPathogenic
Select item 1437902	NC_000006.11:g.(?_158532398)_(160114199_?)dup	DYNLT1, EZR +10 more	Duplication	Primary ciliary dyskinesia 32	GUncertain significance
Select item 1337354	NM_001111077.2(EZR):c.1434C>T (p.Tyr478=)	EZR	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1337002	NM_001111077.2(EZR):c.1481C>T (p.Ala494Val)	EZR (A494V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1336588	NM_001111077.2(EZR):c.1177C>T (p.Arg393Cys)	EZR (R393C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1334828	NM_001111077.2(EZR):c.1426C>G (p.Pro476Ala)	EZR (P476A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1334827	NM_001111077.2(EZR):c.928C>T (p.Arg310Trp)	EZR (R310W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788414	NM_001111077.2(EZR):c.366C>T (p.Ala122=)	EZR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 783478	NM_001111077.2(EZR):c.1275T>A (p.Thr425=)	EZR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781634	NM_001111077.2(EZR):c.1188A>C (p.Ala396=)	EZR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 779916	NM_001111077.2(EZR):c.97-18TC[5]	EZR	Microsatellite (intron variant)	not provided	GBenign
Select item 776178	NM_001111077.2(EZR):c.1480G>C (p.Ala494Pro)	EZR (A494P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 773733	NM_001111077.2(EZR):c.1062T>C (p.Tyr354=)	EZR	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 751923	NM_001111077.2(EZR):c.1308G>A (p.Arg436=)	EZR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 743631	NM_001111077.2(EZR):c.97-5C>T	EZR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 735583	NM_001111077.2(EZR):c.1412C>T (p.Pro471Leu)	EZR (P471L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 734425	NM_001111077.2(EZR):c.324A>G (p.Glu108=)	EZR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 731043	NM_001111077.2(EZR):c.1740C>T (p.Ile580=)	EZR	Single nucleotide variant (synonymous variant)	EZR-related disorder +1 more	GLikely benign
Select item 725496	NM_001111077.2(EZR):c.1131G>A (p.Glu377=)	EZR	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 720652	NM_001111077.2(EZR):c.123A>G (p.Glu41=)	EZR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 719278	NM_001111077.2(EZR):c.1440G>A (p.Pro480=)	EZR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 687358	GRCh37/hg19 6q25.3(chr6:157262571-160992289)x3	ACAT2, AIRN +27 more	Copy number gain	not provided	GUncertain significance
Select item 685788	GRCh37/hg19 6q24.3-25.3(chr6:148195086-160127254)x3	AKAP12, ARID1B +58 more	Copy number gain	not provided	GPathogenic
Select item 561258	46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn	FNDC1, FRMD1 +86 more	Complex	Coffin-Siris syndrome 1	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 435117	NM_001111077.2(EZR):c.538C>T (p.Arg180Cys)	EZR, LOC126859852 (R180C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 435116	NM_001111077.2(EZR):c.1585C>T (p.Arg529Trp)	EZR (R529W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 435115	NM_001111077.2(EZR):c.959+7G>A	EZR	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 435114	NM_001111077.2(EZR):c.94C>G (p.Gln32Glu)	EZR (Q32E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 435113	NM_001111077.2(EZR):c.366C>G (p.Ala122=)	EZR	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 435112	NM_001111077.2(EZR):c.699-6C>T	EZR	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 435111	NM_001111077.2(EZR):c.752A>G (p.Asn251Ser)	EZR (N251S)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 435110	NM_001111077.2(EZR):c.795T>G (p.Pro265=)	EZR	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 435109	NM_001111077.2(EZR):c.1142G>A (p.Arg381Gln)	EZR (R381Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 435108	NM_001111077.2(EZR):c.1293G>C (p.Leu431=)	EZR	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 435107	NM_001111077.2(EZR):c.1350A>G (p.Lys450=)	EZR	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 435106	NM_001111077.2(EZR):c.1419A>C (p.Pro473=)	EZR	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 435105	NM_001111077.2(EZR):c.1422A>T (p.Pro474=)	EZR	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 435104	NM_001111077.2(EZR):c.1598C>T (p.Thr533Met)	EZR (T533M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 394997	GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3	ACAT2, AFDN +87 more	Copy number gain	See cases	GPathogenic
Select item 372123	NM_001111077.2(EZR):c.385G>A (p.Ala129Thr)	EZR, LOC126859852 (A129T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 155551	GRCh38/hg38 6q25.3-26(chr6:158585724-160899783)x3	ACAT2, AIRN +115 more	Copy number gain	See cases	GUncertain significance
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	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 150766	GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1	AKAP12, ARID1B +288 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 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	ACAT2, AFDN +539 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 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	LOC129997707, LOC129997708 +548 more	Copy number loss	See cases	GPathogenic
Select item 58157	GRCh38/hg38 6q25.3(chr6:157827805-159726548)x3	DYNLT1, EZR +100 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

ClinVar

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Germline classification

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Links from Gene

Items: 98