ClinVar for Gene (Select 440956) - ClinVar - NCBI

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Links from Gene

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3286360	NM_001368369.1(IQCF6):c.391G>C (p.Glu131Gln)	IQCF6 (E92Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110457	NM_001368369.1(IQCF6):c.236C>A (p.Thr79Asn)	IQCF6 (T40N +2 more)	Single nucleotide variant (missense variant)	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 2607925	NM_001368369.1(IQCF6):c.245A>G (p.Glu82Gly)	IQCF6 (E63G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592721	NM_001368369.1(IQCF6):c.313C>T (p.Arg105Cys)	IQCF6 (R86C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483989	NM_001368369.1(IQCF6):c.349T>C (p.Trp117Arg)	IQCF6 (W117R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407543	NM_001368369.1(IQCF6):c.314G>A (p.Arg105His)	IQCF6 (R86H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389370	NM_001368369.1(IQCF6):c.211C>T (p.Arg71Trp)	IQCF6 (R52W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335444	NM_001368369.1(IQCF6):c.379C>G (p.Arg127Gly)	IQCF6 (R108G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318516	NM_001368369.1(IQCF6):c.151A>G (p.Arg51Gly)	IQCF6 (R12G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316574	NM_001368369.1(IQCF6):c.424G>A (p.Glu142Lys)	IQCF6 (E103K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254097	NM_001368369.1(IQCF6):c.406C>T (p.Arg136Trp)	IQCF6 (R117W +2 more)	Single nucleotide variant (missense variant)	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 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