JUND[gene] - ClinVar

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Items: 28

	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 60074	GRCh38/hg38 19p13.11(chr19:17922234-18463153)x1	ARRDC2, CCDC124 +85 more	Copy number loss	See cases	GPathogenic
Select item 154877	GRCh38/hg38 19p13.11(chr19:18133970-18424117)x1	CIST1, GDF15 +51 more	Copy number loss	See cases	GUncertain significance
Select item 2326567	NM_005354.6(JUND):c.1027C>G (p.Gln343Glu)	JUND, LOC130063994 (Q300E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511018	NM_005354.6(JUND):c.860A>G (p.Lys287Arg)	JUND (K244R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 729823	NM_005354.6(JUND):c.825G>T (p.Arg275=)	JUND	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2375646	NM_005354.6(JUND):c.807C>G (p.Ile269Met)	JUND (I226M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523889	NM_005354.6(JUND):c.614G>A (p.Gly205Glu)	JUND (G205E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381235	NM_005354.6(JUND):c.611C>T (p.Ala204Val)	JUND (A161V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 730275	NM_005354.6(JUND):c.589C>T (p.Leu197=)	JUND	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2472192	NM_005354.6(JUND):c.532C>T (p.Pro178Ser)	JUND (P135S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210272	NM_005354.6(JUND):c.488C>G (p.Ala163Gly)	JUND (A120G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611319	NM_005354.6(JUND):c.443A>C (p.His148Pro)	JUND (H105P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2649580	NM_005354.6(JUND):c.267C>T (p.Ala89=)	JUND	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2347995	NM_005354.6(JUND):c.250C>T (p.Pro84Ser)	JUND (P41S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594143	NM_005354.6(JUND):c.215C>A (p.Pro72His)	JUND (P29H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258969	NM_005354.6(JUND):c.158G>A (p.Ser53Asn)	JUND (S53N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206317	NM_005354.6(JUND):c.112A>C (p.Thr38Pro)	JUND (T38P)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2309650	NM_005354.6(JUND):c.91T>G (p.Leu31Val)	JUND (L31V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2220506	NM_005354.6(JUND):c.76G>C (p.Ala26Pro)	JUND (A26P)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2425279	NC_000019.9:g.(?_17927663)_(19312528_?)dup	ARMC6, ARRDC2 +44 more	Duplication	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 1526658	GRCh37/hg19 19p13.11(chr19:18327675-18543341)	GDF15, IQCN +6 more	Copy number gain	not specified	GUncertain significance
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
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

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Items: 28