ClinVar for Gene (Select 126859928) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3110433	NM_152558.5(IQCE):c.388A>G (p.Ser130Gly)	IQCE, LOC126859928 (S130G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110432	NM_152558.5(IQCE):c.272A>T (p.Gln91Leu)	IQCE, LOC126859928 (Q26L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460760	NM_152558.5(IQCE):c.316G>A (p.Val106Ile)	IQCE, LOC126859928 (V106I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378076	NM_152558.5(IQCE):c.322G>A (p.Gly108Ser)	IQCE, LOC126859928 (G108S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2349988	NM_152558.5(IQCE):c.356G>A (p.Arg119Lys)	IQCE, LOC126859928 (R54K +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2293342	NM_152558.5(IQCE):c.325G>A (p.Gly109Ser)	IQCE, LOC126859928 (G93S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1300115	NM_152558.5(IQCE):c.312T>C (p.Thr104=)	IQCE, LOC126859928	Single nucleotide variant (synonymous variant)	Polydactyly, postaxial, type a7 +1 more	GBenign
Select item 783483	NM_152558.5(IQCE):c.324C>T (p.Gly108=)	IQCE, LOC126859928	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768134	NM_152558.5(IQCE):c.301C>A (p.His101Asn)	IQCE, LOC126859928 (H101N +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 721016	NM_152558.5(IQCE):c.342G>C (p.Leu114=)	IQCE, LOC126859928	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	PSMG3, PSMG3-AS1 +904 more	Copy number gain	See cases	GPathogenic
Select item 155196	GRCh38/hg38 7p22.3(chr7:2031462-2653470)x3	BRAT1, CHST12 +63 more	Copy number gain	See cases	GLikely benign
Select item 155108	GRCh38/hg38 7p22.3-22.2(chr7:45130-3406236)x3	AMZ1, ADAP1 +246 more	Copy number gain	See cases	GUncertain significance
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 154928	GRCh38/hg38 7p22.3-22.2(chr7:54165-3258775)x1	LOC129997784, LOC129997785 +245 more	Copy number loss	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	LOC129997989, LOC129997990 +823 more	Copy number gain	See cases	GPathogenic
Select item 148450	GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3	ACTB, ADAP1 +439 more	Copy number gain	See cases	GPathogenic
Select item 147625	GRCh38/hg38 7p22.3-22.2(chr7:54185-3324143)x1	ADAP1, AMZ1 +246 more	Copy number loss	See cases	GPathogenic
Select item 147563	GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3	LOC123924897, LOC123924898 +418 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	LOC110120728, LOC110120749 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	ABCB5, ACTB +1148 more	Copy number gain	See cases	GPathogenic
Select item 59675	GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3	BRAT1, ACTB +381 more	Copy number gain	See cases	GPathogenic
Select item 58492	GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1	ACTB, ADAP1 +357 more	Copy number loss	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	LOC126860013, LOC126860014 +1298 more	Copy number gain	See cases	GPathogenic

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Items: 25