ClinVar for Gene (Select 6252) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315697	NM_021136.3(RTN1):c.2047G>C (p.Val683Leu)	RTN1 (V100L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157009	NM_021136.3(RTN1):c.2144T>C (p.Val715Ala)	RTN1 (V147A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157008	NM_021136.3(RTN1):c.1954G>A (p.Asp652Asn)	RTN1 (D69N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157007	NM_021136.3(RTN1):c.1867G>A (p.Val623Ile)	RTN1 (V55I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685487	GRCh37/hg19 14q22.3-23.2(chr14:55667390-64447598)x1	HIF1A, HIF1A-AS2 +47 more	Copy number loss	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2684726	GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3	ACTR10, AKAP5 +71 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2372374	NM_021136.3(RTN1):c.916A>C (p.Ile306Leu)	RTN1 (I306L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316510	NM_021136.3(RTN1):c.1045G>T (p.Gly349Cys)	RTN1 (G349C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2268867	NM_021136.3(RTN1):c.2278G>A (p.Val760Ile)	RTN1 (V760I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262533	NM_021136.3(RTN1):c.976G>T (p.Asp326Tyr)	RTN1 (D326Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248086	NM_021136.3(RTN1):c.296A>G (p.Asp99Gly)	RTN1 (D99G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807640	GRCh37/hg19 14q22.3-23.2(chr14:57804997-63590203)x1	ACTR10, ARID4A +32 more	Copy number loss	not provided	GLikely pathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	ISCA2, TMEM30B +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 815665	GRCh37/hg19 14q23.1(chr14:60327446-60622477)x3	DHRS7, RTN1 +1 more	Copy number gain	not provided	GLikely benign
Select item 790143	NM_021136.3(RTN1):c.242-9G>C	RTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 787944	NM_021136.3(RTN1):c.1218G>A (p.Ala406=)	RTN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781131	NM_021136.3(RTN1):c.740G>A (p.Gly247Glu)	RTN1 (G247E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 781130	NM_021136.3(RTN1):c.1069A>G (p.Ile357Val)	RTN1 (I357V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 778742	NM_021136.3(RTN1):c.370A>G (p.Thr124Ala)	RTN1 (T124A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 778741	NM_021136.3(RTN1):c.639C>T (p.Pro213=)	RTN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708579	NM_021136.3(RTN1):c.815G>A (p.Arg272His)	RTN1 (R272H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 564129	GRCh37/hg19 14q23.1(chr14:60011801-61106182)x3	CCDC175, PCNX4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 564123	GRCh37/hg19 14q23.1(chr14:59527587-60119877)x3	JKAMP, GPR135 +4 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 149300	GRCh38/hg38 14q23.1-23.2(chr14:57653413-64093528)x1	ACTR10, ARID4A +202 more	Copy number loss	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57782	GRCh38/hg38 14q23.1(chr14:58146022-61273619)x1	ACTR10, ARID4A +113 more	Copy number loss	See cases	GPathogenic
Select item 57781	GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1	ACTR10, AKAP5 +344 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 33