ClinVar for Gene (Select 389458) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2529982	NM_001204513.3(RBAK-RBAKDN):c.334G>A (p.Gly112Arg)	RBAK-RBAKDN, RBAKDN (G112R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2410845	NM_001204513.3(RBAK-RBAKDN):c.241G>T (p.Ala81Ser)	RBAK-RBAKDN, RBAKDN (A81S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267780	NM_001204513.3(RBAK-RBAKDN):c.256C>T (p.His86Tyr)	RBAK-RBAKDN, RBAKDN (H86Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
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 150788	GRCh38/hg38 7p22.1(chr7:4922492-5112002)x3	LOC129389731, LOC129997867 +5 more	Copy number gain	See cases	GLikely benign
Select item 148915	GRCh38/hg38 7p22.1(chr7:4849987-5760088)x3	ACTB, FBXL18 +75 more	Copy number gain	See cases	GLikely pathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +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 147563	GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3	ACTB, ADAP1 +418 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 145914	GRCh38/hg38 7p22.1(chr7:5041361-5126344)x1	LOC129389731, LOC129997867 +4 more	Copy number loss	See cases	GLikely benign
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +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 59565	GRCh38/hg38 7p22.1(chr7:4876621-6492003)x3	ACTB, AIMP2 +119 more	Copy number gain	See cases	GUncertain significance
Select item 58505	GRCh38/hg38 7p22.1(chr7:5062000-5825183)x1	ACTB, FBXL18 +71 more	Copy number loss	See cases	GPathogenic
Select item 58498	GRCh38/hg38 7p22.1(chr7:5062000-6692258)x1	LOC129997877, LOC129997878 +137 more	Copy number loss	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	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 57293	GRCh38/hg38 7p22.2-22.1(chr7:4469558-5111872)x3	AP5Z1, FOXK1 +33 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 21