ClinVar for Gene (Select 145407) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3129721	NM_001001872.4(ARMH4):c.960G>C (p.Glu320Asp)	ARMH4 (E320D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129720	NM_001001872.4(ARMH4):c.788A>G (p.Asp263Gly)	ARMH4 (D263G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129719	NM_001001872.4(ARMH4):c.1868A>G (p.Asp623Gly)	ARMH4 (D623G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129718	NM_001001872.4(ARMH4):c.1684A>G (p.Thr562Ala)	ARMH4 (T562A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129717	NM_001001872.4(ARMH4):c.1667T>A (p.Val556Asp)	ARMH4 (V556D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129716	NM_001001872.4(ARMH4):c.1456G>A (p.Glu486Lys)	ARMH4 (E486K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129715	NM_001001872.4(ARMH4):c.1453C>A (p.Leu485Ile)	ARMH4 (L485I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129714	NM_001001872.4(ARMH4):c.1127C>T (p.Thr376Met)	ARMH4 (T376M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 2644258	NM_001001872.4(ARMH4):c.57C>T (p.Phe19=)	ARMH4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644257	NM_001001872.4(ARMH4):c.1624C>G (p.Gln542Glu)	ARMH4 (Q542E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2578725	GRCh37/hg19 14q22.3-23.1(chr14:57675327-59806898)x1	DAAM1, ACTR10 +12 more	Copy number loss	not provided	GUncertain significance
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 980498	GRCh37/hg19 14q23.1(chr14:58412701-58474350)x1	ARMH4	Copy number loss	not provided	GUncertain significance
Select item 815660	GRCh37/hg19 14q22.3-23.1(chr14:56605398-59404256)x1	ACTR10, AP5M1 +14 more	Copy number loss	not provided	GPathogenic
Select item 444850	GRCh37/hg19 14q23.1(chr14:58598190-58733421)x3	ACTR10, ARMH4 +1 more	Copy number gain	not provided	GLikely benign
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
Select item 155334	GRCh38/hg38 14q22.3-23.1(chr14:57121531-58028799)x1	AP5M1, ARMH4 +9 more	Copy number loss	See cases	GUncertain significance
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 149300	GRCh38/hg38 14q23.1-23.2(chr14:57653413-64093528)x1	ACTR10, ARID4A +202 more	Copy number loss	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 57782	GRCh38/hg38 14q23.1(chr14:58146022-61273619)x1	ACTR10, ARID4A +113 more	Copy number loss	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

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Links from Gene

Items: 28