ClinVar for Gene (Select 132141) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3110445	NM_152397.3(IQCF1):c.515A>G (p.Gln172Arg)	IQCF1 (Q172R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110444	NM_152397.3(IQCF1):c.455G>T (p.Arg152Leu)	IQCF1 (R152L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110443	NM_152397.3(IQCF1):c.421C>T (p.Arg141Cys)	IQCF1 (R141C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110442	NM_152397.3(IQCF1):c.308G>A (p.Arg103Gln)	IQCF1 (R103Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110441	NM_152397.3(IQCF1):c.253C>T (p.Arg85Cys)	IQCF1 (R85C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110440	NM_152397.3(IQCF1):c.202A>G (p.Lys68Glu)	IQCF1 (K68E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110439	NM_152397.3(IQCF1):c.193C>T (p.Leu65Phe)	IQCF1 (L65F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110438	NM_152397.3(IQCF1):c.121G>T (p.Val41Phe)	IQCF1 (V41F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110437	NM_152397.3(IQCF1):c.104C>A (p.Ala35Glu)	IQCF1, LOC126806678 (A35E)	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 2614681	NM_152397.3(IQCF1):c.114A>C (p.Lys38Asn)	IQCF1 (K38N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557258	NM_152397.3(IQCF1):c.602T>A (p.Phe201Tyr)	IQCF1 (F201Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543016	NM_152397.3(IQCF1):c.227A>T (p.Gln76Leu)	IQCF1 (Q76L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489889	NM_152397.3(IQCF1):c.440T>G (p.Val147Gly)	IQCF1 (V147G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375719	NM_152397.3(IQCF1):c.409A>C (p.Met137Leu)	IQCF1 (M137L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373577	NM_152397.3(IQCF1):c.422G>A (p.Arg141His)	IQCF1 (R141H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344771	NM_152397.3(IQCF1):c.481C>T (p.Arg161Cys)	IQCF1 (R161C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318840	NM_152397.3(IQCF1):c.209C>T (p.Thr70Met)	IQCF1 (T70M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2291694	NM_152397.3(IQCF1):c.113A>C (p.Lys38Thr)	IQCF1 (K38T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265801	NM_152397.3(IQCF1):c.340C>T (p.Arg114Trp)	IQCF1 (R114W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210039	NM_152397.3(IQCF1):c.26C>T (p.Thr9Met)	IQCF1, LOC126806678 (T9M)	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

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Links from Gene

Items: 27