23788[HGNC] - ClinVar

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Items: 66

	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 2569916	NM_058237.2(PPP4R4):c.37A>G (p.Ser13Gly)	PPP4R4 (S13G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2538267	NM_058237.2(PPP4R4):c.55G>C (p.Gly19Arg)	PPP4R4 (G19R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2262725	NM_058237.2(PPP4R4):c.85A>G (p.Ile29Val)	PPP4R4 (I29V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3217865	NM_058237.2(PPP4R4):c.95G>C (p.Arg32Thr)	PPP4R4 (R32T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3217862	NM_058237.2(PPP4R4):c.388T>C (p.Tyr130His)	PPP4R4 (Y49H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281689	NM_058237.2(PPP4R4):c.509G>A (p.Arg170Gln)	PPP4R4 (R63Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515729	NM_058237.2(PPP4R4):c.566C>A (p.Ser189Tyr)	PPP4R4 (S189Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217863	NM_058237.2(PPP4R4):c.613G>C (p.Asp205His)	PPP4R4 (D98H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531818	NM_058237.2(PPP4R4):c.620A>T (p.His207Leu)	PPP4R4 (H100L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408377	NM_058237.2(PPP4R4):c.701G>A (p.Arg234Gln)	PPP4R4 (R234Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217864	NM_058237.2(PPP4R4):c.746A>G (p.Lys249Arg)	PPP4R4 (K142R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315136	NM_058237.2(PPP4R4):c.1017T>A (p.Phe339Leu)	PPP4R4 (F339L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371539	NM_058237.2(PPP4R4):c.1094A>T (p.Glu365Val)	PPP4R4 (E258V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205345	NM_058237.2(PPP4R4):c.1154T>C (p.Ile385Thr)	PPP4R4 (I385T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309552	NM_058237.2(PPP4R4):c.1165G>A (p.Asp389Asn)	PPP4R4 (D308N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274667	NM_058237.2(PPP4R4):c.1189C>T (p.Leu397Phe)	PPP4R4 (L290F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217853	NM_058237.2(PPP4R4):c.1231C>G (p.Pro411Ala)	PPP4R4 (P304A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493668	NM_058237.2(PPP4R4):c.1360A>G (p.Ile454Val)	PPP4R4 (I454V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217856	NM_058237.2(PPP4R4):c.1573C>T (p.Arg525Cys)	PPP4R4 (R418C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301881	NM_058237.2(PPP4R4):c.1605G>A (p.Met535Ile)	PPP4R4 (M428I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309551	NM_058237.2(PPP4R4):c.1642C>G (p.Arg548Gly)	PPP4R4 (R441G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309553	NM_058237.2(PPP4R4):c.1699A>G (p.Ile567Val)	PPP4R4 (I486V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214958	NM_058237.2(PPP4R4):c.1783G>C (p.Glu595Gln)	PPP4R4 (E488Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273831	NM_058237.2(PPP4R4):c.1818C>A (p.Phe606Leu)	PPP4R4 (F499L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309554	NM_058237.2(PPP4R4):c.1831A>G (p.Ile611Val)	PPP4R4 (I530V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217857	NM_058237.2(PPP4R4):c.1840A>G (p.Thr614Ala)	PPP4R4 (T614A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617833	NM_058237.2(PPP4R4):c.1844A>G (p.His615Arg)	PPP4R4 (H508R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217858	NM_058237.2(PPP4R4):c.2104G>A (p.Glu702Lys)	PPP4R4 (E702K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253651	NM_058237.2(PPP4R4):c.2319C>G (p.Ser773Arg)	PPP4R4 (S692R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217859	NM_058237.2(PPP4R4):c.2330A>G (p.Asn777Ser)	PPP4R4 (N696S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204831	NM_058237.2(PPP4R4):c.2423G>A (p.Gly808Glu)	PPP4R4 (G727E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507827	NM_058237.2(PPP4R4):c.2460C>A (p.Phe820Leu)	PPP4R4 (F713L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217860	NM_058237.2(PPP4R4):c.2461C>T (p.Arg821Trp)	PPP4R4 (R714W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336651	NM_058237.2(PPP4R4):c.2483T>A (p.Val828Asp)	PPP4R4 (V721D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469432	NM_058237.2(PPP4R4):c.2491T>G (p.Ser831Ala)	PPP4R4 (S724A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261518	NM_058237.2(PPP4R4):c.2497T>C (p.Ser833Pro)	PPP4R4 (S726P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217861	NM_058237.2(PPP4R4):c.2516C>T (p.Pro839Leu)	PPP4R4 (P732L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332819	NM_058237.2(PPP4R4):c.2530G>A (p.Gly844Arg)	PPP4R4 (G737R +2 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 1807616	GRCh37/hg19 14q32.12-32.13(chr14:94637559-95522984)x3	GSC, PPP4R4 +10 more	Copy number gain	not provided	GUncertain significance
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 1526435	GRCh37/hg19 14q32.12-32.13(chr14:94442454-95185710)	ASB2, DDX24 +15 more	Copy number gain	not specified	GUncertain significance
Select item 1526434	GRCh37/hg19 14q32.12-32.13(chr14:94400492-96192218)	PPP4R4, SERPINA1 +24 more	Copy number gain	not specified	GUncertain significance
Select item 1348382	NC_000014.8:g.(?_93687728)_(95560403_?)del	ASB2, BTBD7 +23 more	Deletion	DICER1-related tumor predisposition	GLikely pathogenic
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: 66