LOC129994765[gene] - ClinVar - NCBI

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

Search results

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 144268	GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3	BRD8, CDC23 +236 more	Copy number gain	See cases	GPathogenic
Select item 145330	GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3	ECSCR, EGR1 +224 more	Copy number gain	See cases	GPathogenic
Select item 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	See cases	GPathogenic
Select item 147882	GRCh38/hg38 5q31.2(chr5:139103408-139683294)x3	CXXC5, CXXC5-AS1 +74 more	Copy number gain	See cases	GUncertain significance
Select item 58117	GRCh38/hg38 5q31.2(chr5:139151411-139493628)x3	DNAJC18, ECSCR +47 more	Copy number gain	See cases	GPathogenic
Select item 2332824	NM_001161546.2(PROB1):c.2627C>G (p.Ala876Gly)	LOC129994765, PROB1 (A876G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208981	NM_001161546.2(PROB1):c.2585C>G (p.Ser862Cys)	LOC129994765, PROB1 (S862C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218982	NM_001161546.2(PROB1):c.2554C>A (p.Arg852Ser)	LOC129994765, PROB1 +1 more (R852S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218981	NM_001161546.2(PROB1):c.2464C>T (p.Pro822Ser)	LOC129994765, PROB1 +1 more (P822S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385980	NM_001161546.2(PROB1):c.2422G>A (p.Ala808Thr)	LOC129994765, PROB1 +1 more (A808T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484222	NM_001161546.2(PROB1):c.2384G>C (p.Gly795Ala)	LOC129994765, PROB1 +1 more (G795A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380608	NM_001161546.2(PROB1):c.2371G>T (p.Val791Leu)	LOC129994765, PROB1 +1 more (V791L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712577	NM_001161546.2(PROB1):c.2364C>T (p.Arg788=)	LOC129994765, PROB1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3218980	NM_001161546.2(PROB1):c.2345C>T (p.Ala782Val)	LOC129994765, PROB1 +1 more (A782V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375756	NM_001161546.2(PROB1):c.2341G>A (p.Gly781Ser)	LOC129994765, PROB1 +1 more (G781S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569943	NM_001161546.2(PROB1):c.2333C>T (p.Pro778Leu)	LOC129994765, PROB1 +1 more (P778L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance