20344[HGNC] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 57811	GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1	ASB2, ATXN3 +201 more	Copy number loss	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	LOC130056359, LOC130056360 +663 more	Copy number gain	See cases	GPathogenic
Select item 2325356	NM_175748.4(UBR7):c.7G>C (p.Gly3Arg)	UBR7 (G3R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381889	NM_175748.4(UBR7):c.22G>A (p.Ala8Thr)	UBR7 (A8T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381891	NM_175748.4(UBR7):c.23C>A (p.Ala8Asp)	UBR7 (A8D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508331	NM_175748.4(UBR7):c.29G>A (p.Arg10Gln)	UBR7 (R10Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1294425	NM_175748.4(UBR7):c.35_54dup (p.Ser19fs)	UBR7 (S19fs)	Duplication (frameshift variant +1 more)	Intellectual disability, mild	GPathogenic
Select item 997415	NM_175748.4(UBR7):c.37G>T (p.Glu13Ter)	UBR7 (E13*)	Single nucleotide variant (nonsense +1 more)	Li-Campeau syndrome	GPathogenic
Select item 3185877	NM_175748.4(UBR7):c.59T>G (p.Leu20Trp)	UBR7 (L20W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3343652	NM_175748.4(UBR7):c.113T>C (p.Leu38Pro)	UBR7 (L38P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1339353	NM_175748.4(UBR7):c.166C>T (p.Gln56Ter)	UBR7 (Q56*)	Single nucleotide variant (nonsense)	Li-Campeau syndrome	GLikely pathogenic
Select item 3066045	NM_175748.4(UBR7):c.227T>G (p.Leu76Ter)	UBR7 (L76*)	Single nucleotide variant (nonsense)	Li-Campeau syndrome	GLikely pathogenic
Select item 2303016	NM_175748.4(UBR7):c.236G>C (p.Ser79Thr)	UBR7 (S79T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644472	NM_175748.4(UBR7):c.249T>C (p.His83=)	UBR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644473	NM_175748.4(UBR7):c.276C>T (p.Tyr92=)	UBR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 207868	NM_175748.4(UBR7):c.293G>A (p.Arg98His)	UBR7 (R98H)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GLikely benign
Select item 2290672	NM_175748.4(UBR7):c.406A>G (p.Ile136Val)	UBR7 (I136V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2644474	NM_175748.4(UBR7):c.466G>A (p.Val156Ile)	UBR7 (V156I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2644475	NM_175748.4(UBR7):c.468A>G (p.Val156=)	UBR7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 997417	NM_175748.4(UBR7):c.496-2A>G	UBR7	Single nucleotide variant (splice acceptor variant)	Li-Campeau syndrome	GPathogenic
Select item 997416	NM_175748.4(UBR7):c.564_565dup (p.Cys189fs)	UBR7 (C189fs)	Duplication (frameshift variant +1 more)	Li-Campeau syndrome	GPathogenic
Select item 2644476	NM_175748.4(UBR7):c.574T>C (p.Leu192=)	UBR7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2361835	NM_175748.4(UBR7):c.587C>T (p.Ala196Val)	UBR7 (A196V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 997419	NM_175748.4(UBR7):c.618del (p.Glu207fs)	UBR7 (E207fs)	Deletion (frameshift variant +1 more)	Li-Campeau syndrome	GConflicting classifications of pathogenicity
Select item 2556665	NM_175748.4(UBR7):c.650G>T (p.Gly217Val)	UBR7 (G66V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511555	NM_175748.4(UBR7):c.736G>A (p.Asp246Asn)	UBR7 (D246N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185878	NM_175748.4(UBR7):c.755A>C (p.Lys252Thr)	UBR7 (K252T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470701	NM_175748.4(UBR7):c.862C>T (p.Leu288Phe)	UBR7 (L137F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1292050	NM_175748.4(UBR7):c.863T>C (p.Leu288Pro)	UBR7 (L288P)	Single nucleotide variant (missense variant +1 more)	Global developmental delay	GUncertain significance
Select item 2468447	NM_175748.4(UBR7):c.886C>T (p.Leu296Phe)	UBR7 (L145F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3065057	NM_175748.4(UBR7):c.1132G>A (p.Asp378Asn)	UBR7 (D227N +1 more)	Single nucleotide variant (missense variant +1 more)	Li-Campeau syndrome	GUncertain significance
Select item 997420	NM_175748.4(UBR7):c.1186-1G>C	UBR7	Single nucleotide variant (splice acceptor variant)	Li-Campeau syndrome	GPathogenic
Select item 3066044	NM_175748.4(UBR7):c.1207C>T (p.Gln403Ter)	UBR7 (Q252* +1 more)	Single nucleotide variant (nonsense +1 more)	Li-Campeau syndrome	GLikely pathogenic
Select item 2505740	NM_175748.4(UBR7):c.1240AGA[2] (p.Arg416del)	UBR7 (R416del)	Microsatellite (frameshift variant +2 more)	not provided	GUncertain significance
Select item 2476577	NM_175748.4(UBR7):c.1260G>A (p.Met420Ile)	UBR7 (M420I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185875	NM_175748.4(UBR7):c.1264T>A (p.Tyr422Asn)	UBR7 (Y271N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	IFI27L1, IGHA2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2570894	GRCh37/hg19 14q31.3-32.13(chr14:88401076-94725706)x1	ASB2, ATXN3 +48 more	Copy number loss	not provided	GPathogenic
Select item 2425566	NC_000014.8:g.(?_90429459)_(97347545_?)dup	SYNE3, TC2N +66 more	Duplication	not provided	GUncertain significance
Select item 2425046	NC_000014.8:g.(?_90429459)_(94856914_?)dup	ASB2, ATXN3 +42 more	Duplication	Achondrogenesis, type IA	GUncertain significance
Select item 1807775	GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	ADSS1, AHNAK2 +185 more	Copy number gain	not provided	GPathogenic
Select item 1807735	GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3	OTUB2, PAPOLA +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1527831	GRCh37/hg19 14q31.3-32.13(chr14:88345625-94773741)	ASB2, ATXN3 +50 more	Copy number loss	not specified	GPathogenic
Select item 1348382	NC_000014.8:g.(?_93687728)_(95560403_?)del	ASB2, BTBD7 +23 more	Deletion	DICER1-related tumor predisposition	GLikely pathogenic
Select item 997418	NC_000014.8:g.93660388_93690906del	GON7, UBR7	Deletion	Li-Campeau syndrome	GPathogenic
Select item 813277	GRCh37/hg19 14q31.2-32.2(chr14:84783523-96907490)x1	SERPINA10, SERPINA11 +74 more	Copy number loss	Deletion syndrome	GPathogenic
Select item 687996	GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3	ATXN3, BAG5 +164 more	Copy number gain	not provided	GPathogenic
Select item 564136	GRCh37/hg19 14q31.2-32.2(chr14:84783137-96908198)x1	AK7, ASB2 +74 more	Copy number loss	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 more	Copy number gain	See cases	GPathogenic
Select item 441640	GRCh37/hg19 14q32.12-32.13(chr14:93498930-96059698)x3	ASB2, BTBD7 +31 more	Copy number gain	See cases	GUncertain significance
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic

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Items: 60