YJEFN3[gene] - ClinVar

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

Search results

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	LOC130063908, LOC130063909 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	LOC130064107, LOC130064108 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	ABHD8, ANKLE1 +625 more	Copy number gain	See cases	GPathogenic
Select item 2285660	NM_198537.4(YJEFN3):c.25C>G (p.Pro9Ala)	YJEFN3 (P9A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622190	NM_198537.4(YJEFN3):c.79C>T (p.Pro27Ser)	YJEFN3 (P27S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2213266	NM_198537.4(YJEFN3):c.88G>A (p.Asp30Asn)	YJEFN3 (D30N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2482242	NM_198537.4(YJEFN3):c.130C>T (p.Leu44Phe)	YJEFN3 (L44F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2488083	NM_198537.4(YJEFN3):c.152C>T (p.Ala51Val)	YJEFN3 (A51V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2458519	NM_198537.4(YJEFN3):c.206A>G (p.Gln69Arg)	YJEFN3 (Q69R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2273602	NM_198537.4(YJEFN3):c.212C>T (p.Thr71Ile)	YJEFN3 (T21I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347273	NM_198537.4(YJEFN3):c.326C>T (p.Pro109Leu)	YJEFN3 (P59L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318459	NM_198537.4(YJEFN3):c.449T>G (p.Phe150Cys)	YJEFN3 (F100C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388966	NM_198537.4(YJEFN3):c.460C>T (p.Arg154Cys)	YJEFN3 (R104C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398429	NM_198537.4(YJEFN3):c.482G>A (p.Arg161Gln)	YJEFN3 (R111Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215124	NM_198537.4(YJEFN3):c.501C>G (p.Cys167Trp)	YJEFN3 (C117W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522570	NM_198537.4(YJEFN3):c.502G>A (p.Glu168Lys)	YJEFN3 (E118K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235634	NM_198537.4(YJEFN3):c.562G>A (p.Ala188Thr)	YJEFN3 (A138T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274303	NM_198537.4(YJEFN3):c.569G>C (p.Gly190Ala)	YJEFN3 (G190A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2649610	NM_198537.4(YJEFN3):c.647C>G (p.Thr216Arg)	YJEFN3 (T166R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2341066	NM_198537.4(YJEFN3):c.703G>C (p.Ala235Pro)	YJEFN3 (A185P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2247641	NM_198537.4(YJEFN3):c.776G>T (p.Cys259Phe)	YJEFN3 (C209F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062380	GRCh37/hg19 19p13.11-12(chr19:18926463-21100330)x1	ARMC6, ATP13A1 +36 more	Copy number loss	not specified	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 688889	GRCh37/hg19 19p13.11(chr19:19560981-19962412)x3	ATP13A1, CILP2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 395371	GRCh37/hg19 19p13.11(chr19:19644501-19657440)x3	CILP2, YJEFN3	Copy number gain	See cases	GUncertain significance
Select item 221350	chr19:19230868-24115369 complex variant	ATP13A1, BORCS8 +49 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 30