9275[HGNC] - ClinVar

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Items: 33

	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 57781	GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1	ACTR10, AKAP5 +344 more	Copy number loss	See cases	GPathogenic
Select item 149300	GRCh38/hg38 14q23.1-23.2(chr14:57653413-64093528)x1	ACTR10, ARID4A +202 more	Copy number loss	See cases	GPathogenic
Select item 57782	GRCh38/hg38 14q23.1(chr14:58146022-61273619)x1	ACTR10, ARID4A +113 more	Copy number loss	See cases	GPathogenic
Select item 57228	GRCh38/hg38 14q23.1-23.3(chr14:59917051-66750803)x1	LOC132090233, LOC132090234 +264 more	Copy number loss	See cases	GPathogenic
Select item 3217311	NM_021003.5(PPM1A):c.-18C>G	LOC126861959, PPM1A (L68V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2545770	NM_021003.5(PPM1A):c.50G>A (p.Gly17Glu)	LOC126861959, PPM1A (G90E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287558	NM_021003.5(PPM1A):c.68G>A (p.Arg23Gln)	LOC126861959, PPM1A (R23Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596131	NM_021003.5(PPM1A):c.71A>T (p.Tyr24Phe)	LOC126861959, PPM1A (Y97F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494677	NM_021003.5(PPM1A):c.155C>T (p.Ser52Leu)	LOC126861959, PPM1A (S125L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323945	NM_021003.5(PPM1A):c.237C>G (p.Ile79Met)	LOC126861959, PPM1A (I79M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217313	NM_021003.5(PPM1A):c.341T>C (p.Val114Ala)	LOC126861959, PPM1A (V187A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348193	NM_021003.5(PPM1A):c.465G>C (p.Arg155Ser)	LOC126861959, PPM1A (R228S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217314	NM_021003.5(PPM1A):c.623A>G (p.Lys208Arg)	LOC126861959, PPM1A (K281R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362979	NM_021003.5(PPM1A):c.687A>T (p.Glu229Asp)	LOC126861959, PPM1A (E229D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216056	NM_021003.5(PPM1A):c.688G>A (p.Asp230Asn)	LOC126861959, PPM1A (D303N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308971	NM_021003.5(PPM1A):c.785A>G (p.Asp262Gly)	PPM1A (D262G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206799	NM_021003.5(PPM1A):c.786T>G (p.Asp262Glu)	PPM1A (D335E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333740	NM_021003.5(PPM1A):c.893C>T (p.Ser298Leu)	PPM1A (S298L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252653	NM_021003.5(PPM1A):c.921G>T (p.Glu307Asp)	PPM1A (E380D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386543	NM_021003.5(PPM1A):c.942C>G (p.Cys314Trp)	PPM1A (C387W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217310	NM_021003.5(PPM1A):c.1069G>A (p.Val357Ile)	PPM1A (V357I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685487	GRCh37/hg19 14q22.3-23.2(chr14:55667390-64447598)x1	HIF1A, HIF1A-AS2 +47 more	Copy number loss	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 2684726	GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3	ACTR10, AKAP5 +71 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 1807640	GRCh37/hg19 14q22.3-23.2(chr14:57804997-63590203)x1	ACTR10, ARID4A +32 more	Copy number loss	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 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	ISCA2, TMEM30B +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 564129	GRCh37/hg19 14q23.1(chr14:60011801-61106182)x3	CCDC175, PCNX4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
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: 33