ClinVar for Gene (Select 145407) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

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	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	AP5M1, EXOC5 +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)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ERG28, OR11G2 +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	LOC125048431, LOC125048432 +3280 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	FSCB, FUT8 +3275 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 28