ClinVar for Gene (Select 84666) - ClinVar

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Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3313753	NM_032579.3(RETNLB):c.156G>T (p.Lys52Asn)	RETNLB (K52N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313752	NM_032579.3(RETNLB):c.284G>T (p.Cys95Phe)	RETNLB (C95F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153130	NM_032579.3(RETNLB):c.71A>G (p.Gln24Arg)	RETNLB (Q24R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153129	NM_032579.3(RETNLB):c.308C>T (p.Thr103Ile)	RETNLB (T103I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153128	NM_032579.3(RETNLB):c.11C>T (p.Ser4Phe)	RETNLB (S4F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685089	GRCh37/hg19 3q13.12-13.13(chr3:106530324-108811014)x1	BBX, CCDC54 +10 more	Copy number loss	not provided	GUncertain significance
Select item 2620566	NM_032579.3(RETNLB):c.178A>C (p.Ser60Arg)	RETNLB (S60R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598591	NM_032579.3(RETNLB):c.239A>G (p.Tyr80Cys)	RETNLB (Y80C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 2477144	NM_032579.3(RETNLB):c.38C>T (p.Pro13Leu)	RETNLB (P13L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2351585	NM_032579.3(RETNLB):c.7C>T (p.Pro3Ser)	RETNLB (P3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314346	NM_032579.3(RETNLB):c.68C>T (p.Thr23Ile)	RETNLB (T23I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273591	NM_032579.3(RETNLB):c.189A>T (p.Arg63Ser)	RETNLB (R33S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221408	NM_032579.3(RETNLB):c.7C>A (p.Pro3Thr)	RETNLB (P3T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807773	GRCh37/hg19 3q13.12-13.31(chr3:107059705-115005256)x1	ABHD10, ATG3 +49 more	Copy number loss	not provided	GPathogenic
Select item 1703653	GRCh37/hg19 3q13.12-13.31(chr3:106598767-115704696)	ABHD10, ATG3 +51 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 814468	GRCh37/hg19 3q12.3-13.2(chr3:101812245-112174485)x1	ABHD10, ALCAM +29 more	Copy number loss	not provided	GPathogenic
Select item 685811	GRCh37/hg19 3q13.13(chr3:107982673-108483113)x3	CIP2A, DZIP3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 562799	GRCh37/hg19 3q13.12-13.13(chr3:106706719-109171489)x1	MORC1-AS1, DZIP3 +13 more	Copy number loss	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 441867	GRCh37/hg19 3q13.13(chr3:108146914-108651271)x1	CIP2A, DZIP3 +4 more	Copy number loss	See cases	GUncertain significance
Select item 393800	GRCh37/hg19 3q13.11-13.32(chr3:105094834-117441953)x1	ABHD10, ALCAM +53 more	Copy number loss	See cases	GPathogenic
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 150361	GRCh38/hg38 3q13.11-13.13(chr3:106451492-109265496)x1	BBX, C3orf85 +61 more	Copy number loss	See cases	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +398 more	Copy number loss	See cases	GPathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57980	GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3	LOC132088858, LOC132088860 +248 more	Copy number gain	See cases	GPathogenic
Select item 57804	GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)x1	ABHD10, ATG3 +186 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 57243	GRCh38/hg38 3q13.11-13.13(chr3:103692220-109605902)x1	LOC129389108, LOC129389109 +89 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 32