19863[HGNC] - ClinVar

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Items: 45

	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 2619548	NM_153811.3(SLC38A6):c.67G>A (p.Glu23Lys)	LOC130055775, SLC38A6 +1 more (E23K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3164587	NM_153811.3(SLC38A6):c.118C>G (p.Gln40Glu)	SLC38A6 (Q40E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319716	NM_153811.3(SLC38A6):c.127C>T (p.Pro43Ser)	SLC38A6 (P43S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616796	NM_153811.3(SLC38A6):c.181A>C (p.Ser61Arg)	SLC38A6 (S61R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319719	NM_153811.3(SLC38A6):c.185G>A (p.Gly62Asp)	SLC38A6 (G62D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164588	NM_153811.3(SLC38A6):c.283C>T (p.Leu95Phe)	SLC38A6 (L95F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320237	NM_153811.3(SLC38A6):c.313G>A (p.Val105Ile)	SLC38A6 (V105I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 587545	NM_153811.3(SLC38A6):c.323A>G (p.Tyr108Cys)	SLC38A6 (Y108C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3319717	NM_153811.3(SLC38A6):c.384A>G (p.Ile128Met)	SLC38A6 (I128M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209338	NM_153811.3(SLC38A6):c.404C>G (p.Ala135Gly)	SLC38A6 (A135G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164589	NM_153811.3(SLC38A6):c.428T>C (p.Ile143Thr)	SLC38A6 (I143T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240790	NM_153811.3(SLC38A6):c.442C>T (p.Pro148Ser)	SLC38A6 (P148S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534842	NM_153811.3(SLC38A6):c.524G>C (p.Cys175Ser)	SLC38A6 (C175S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463401	NM_153811.3(SLC38A6):c.547G>A (p.Ala183Thr)	SLC38A6 (A183T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610516	NM_153811.3(SLC38A6):c.617C>G (p.Ala206Gly)	SLC38A6 (A206G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164590	NM_153811.3(SLC38A6):c.673G>A (p.Val225Ile)	SLC38A6 (V225I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3164591	NM_153811.3(SLC38A6):c.752A>G (p.Tyr251Cys)	SLC38A6 (Y251C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266761	NM_153811.3(SLC38A6):c.793T>C (p.Ser265Pro)	SLC38A6 (S265P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319715	NM_153811.3(SLC38A6):c.817C>T (p.Leu273Phe)	SLC38A6 (L273F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223731	NM_153811.3(SLC38A6):c.862G>A (p.Ala288Thr)	SLC38A6 (A288T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490985	NM_153811.3(SLC38A6):c.883A>G (p.Ile295Val)	SLC38A6 (I295V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243600	NM_153811.3(SLC38A6):c.983T>C (p.Val328Ala)	SLC38A6 (V328A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164592	NM_153811.3(SLC38A6):c.988A>G (p.Met330Val)	SLC38A6 (M330V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319718	NM_153811.3(SLC38A6):c.1225A>G (p.Ile409Val)	SLC38A6 (I409V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2534144	NM_153811.3(SLC38A6):c.1232C>T (p.Pro411Leu)	SLC38A6 (P411L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063319	GRCh37/hg19 14q23.1(chr14:61409856-61547375)x1	MNAT1, SLC38A6 +1 more	Copy number loss	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 980604	GRCh37/hg19 14q23.1-23.3(chr14:61409856-65742610)x3	FNTB, AKAP5 +29 more	Copy number gain	not provided	GLikely pathogenic
Select item 815666	GRCh37/hg19 14q23.1(chr14:61409856-61547332)x1	TRMT5, MNAT1 +1 more	Copy number loss	not provided	GLikely benign
Select item 685674	GRCh37/hg19 14q23.1(chr14:61393999-61520353)x1	MNAT1, SLC38A6 +1 more	Copy number loss	not provided	GUncertain significance
Select item 684991	GRCh37/hg19 14q23.1-23.2(chr14:61126208-63517651)x3	HIF1A, HIF1A-AS2 +9 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: 45