ClinVar for Gene (Select 117579) - ClinVar

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Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3154769	NM_080864.4(RLN3):c.62C>T (p.Pro21Leu)	RLN3 (P21L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3154768	NM_080864.4(RLN3):c.362T>C (p.Leu121Pro)	RLN3 (L121P)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3154767	NM_080864.4(RLN3):c.32C>T (p.Ala11Val)	RLN3 (A11V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154766	NM_080864.4(RLN3):c.245A>G (p.Asp82Gly)	RLN3 (D82G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 2620300	NM_080864.4(RLN3):c.179A>G (p.His60Arg)	RLN3 (H60R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456731	NM_080864.4(RLN3):c.355G>C (p.Asp119His)	RLN3 (D119H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2456152	NM_080864.4(RLN3):c.224A>G (p.Asp75Gly)	RLN3 (D75G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2385154	NM_080864.4(RLN3):c.166G>C (p.Asp56His)	RLN3 (D56H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271598	NM_080864.4(RLN3):c.181G>A (p.Glu61Lys)	RLN3 (E61K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253447	NM_080864.4(RLN3):c.236G>A (p.Gly79Asp)	RLN3 (G79D)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1526656	GRCh37/hg19 19p13.12-13.11(chr19:14124666-16431349)	ADGRE2, ADGRE3 +55 more	Copy number loss	not specified	GPathogenic
Select item 787603	NM_080864.4(RLN3):c.88T>C (p.Tyr30His)	RLN3 (Y30H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 734211	NM_080864.4(RLN3):c.121C>T (p.Arg41Ter)	RLN3 (R41*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 634528	NM_080864.4(RLN3):c.287C>A (p.Ser96Ter)	RLN3 (S96*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443220	GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3	ACP5, ADGRE5 +82 more	Copy number gain	See cases	GUncertain significance
Select item 443137	GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1	ADGRE5, ADGRL1 +64 more	Copy number loss	See cases	GPathogenic
Select item 442731	GRCh37/hg19 19p13.2-13.12(chr19:13592592-14717528)x1	ADGRE5, ADGRL1 +30 more	Copy number loss	See cases	GLikely pathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic
Select item 394715	GRCh37/hg19 19p13.12(chr19:14141495-14142319)x3	RLN3	Copy number gain	See cases	GLikely benign
Select item 394234	GRCh37/hg19 19p13.12(chr19:14139111-14150649)x3	IL27RA, RLN3	Copy number gain	See cases	Gconflicting data from submitters
Select item 393953	GRCh37/hg19 19p13.12(chr19:14139111-14162382)x3	IL27RA, RLN3	Copy number gain	See cases	Gconflicting data from submitters
Select item 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	LOC112543445, LOC112543446 +355 more	Copy number loss	See cases	GPathogenic
Select item 147284	GRCh38/hg38 19p13.13-13.12(chr19:13533925-15371089)x1	ADGRE2, ADGRE3 +180 more	Copy number loss	See cases	GPathogenic
Select item 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC129391074, LOC130063625 +351 more	Copy number gain	See cases	GPathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 57362	GRCh38/hg38 19p13.13-13.12(chr19:13533925-14258833)x1	ADGRL1, ADGRL1-AS1 +87 more	Copy number loss	See cases	GUncertain significance

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Links from Gene

Items: 32