ClinVar for Gene (Select 389124) - ClinVar

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

Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3110456	NM_001145059.2(IQCF5):c.332T>G (p.Phe111Cys)	IQCF5, IQCF5-AS1 (F111C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3110455	NM_001145059.2(IQCF5):c.305G>A (p.Arg102His)	IQCF5, IQCF5-AS1 (R102H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3110454	NM_001145059.2(IQCF5):c.277G>A (p.Ala93Thr)	IQCF5, IQCF5-AS1 (A93T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3110453	NM_001145059.2(IQCF5):c.166A>G (p.Arg56Gly)	IQCF5, IQCF5-AS1 (R56G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3110452	NM_001145059.2(IQCF5):c.146T>C (p.Leu49Pro)	IQCF5, IQCF5-AS1 (L49P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
Select item 2603783	NM_001145059.2(IQCF5):c.118A>G (p.Ile40Val)	IQCF5, IQCF5-AS1 (I40V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2524944	NM_001145059.2(IQCF5):c.251G>A (p.Arg84His)	IQCF5, IQCF5-AS1 (R84H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2519175	NM_001145059.2(IQCF5):c.101C>T (p.Ala34Val)	IQCF5, IQCF5-AS1 (A34V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2470428	NM_001145059.2(IQCF5):c.256C>T (p.Arg86Cys)	IQCF5, IQCF5-AS1 (R86C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2459108	NM_001145059.2(IQCF5):c.378A>T (p.Gln126His)	IQCF5, IQCF5-AS1 (Q126H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385481	NM_001145059.2(IQCF5):c.85C>G (p.Arg29Gly)	IQCF5, IQCF5-AS1 (R29G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2357444	NM_001145059.2(IQCF5):c.350A>G (p.Glu117Gly)	IQCF5, IQCF5-AS1 (E117G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346307	NM_001145059.2(IQCF5):c.191A>G (p.Tyr64Cys)	IQCF5, IQCF5-AS1 (Y64C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2345327	NM_001145059.2(IQCF5):c.66G>T (p.Trp22Cys)	IQCF5, IQCF5-AS1 (W22C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2288399	NM_001145059.2(IQCF5):c.83G>A (p.Arg28Gln)	IQCF5, IQCF5-AS1 (R28Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2245072	NM_001145059.2(IQCF5):c.88A>C (p.Thr30Pro)	IQCF5, IQCF5-AS1 (T30P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2218281	NM_001145059.2(IQCF5):c.83G>T (p.Arg28Leu)	IQCF5, IQCF5-AS1 (R28L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 814444	GRCh37/hg19 3p21.2-21.1(chr3:51247306-53069942)x3	ABHD14A, ABHD14B +48 more	Copy number gain	not provided	GUncertain significance
Select item 691393	NM_001145059.2(IQCF5):c.283C>T (p.Arg95Cys)	IQCF5, IQCF5-AS1 (R95C)	Single nucleotide variant (non-coding transcript variant +1 more)	Aganglionic megacolon	GUncertain significance
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 155564	GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1	ABHD14A, ABHD14A-ACY1 +197 more	Copy number loss	See cases	GLikely pathogenic
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 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: 25