ClinVar for Gene (Select 84084) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3312205	NM_032144.3(RAB6C):c.31C>G (p.Leu11Val)	RAB6C, RAB6C-AS1 (L11V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3312204	NM_032144.3(RAB6C):c.247A>C (p.Ile83Leu)	RAB6C, RAB6C-AS1 (I83L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3150832	NM_032144.3(RAB6C):c.467G>A (p.Arg156Lys)	RAB6C (R156K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150831	NM_032144.3(RAB6C):c.446A>G (p.Asn149Ser)	RAB6C (N149S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150830	NM_032144.3(RAB6C):c.277T>G (p.Tyr93Asp)	RAB6C, RAB6C-AS1 (Y93D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3150828	NM_032144.3(RAB6C):c.224T>A (p.Leu75His)	RAB6C, RAB6C-AS1 (L75H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3150827	NM_032144.3(RAB6C):c.21C>A (p.Phe7Leu)	RAB6C, RAB6C-AS1 (F7L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 2534083	NM_032144.3(RAB6C):c.652C>G (p.Pro218Ala)	RAB6C (P218A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521417	NM_032144.3(RAB6C):c.220C>T (p.Arg74Cys)	RAB6C, RAB6C-AS1 (R74C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2486005	NM_032144.3(RAB6C):c.452C>T (p.Thr151Met)	RAB6C (T151M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397535	NM_032144.3(RAB6C):c.503G>A (p.Arg168Gln)	RAB6C (R168Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387484	NM_032144.3(RAB6C):c.517G>A (p.Ala173Thr)	RAB6C (A173T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336793	NM_032144.3(RAB6C):c.292G>A (p.Val98Ile)	RAB6C, RAB6C-AS1 (V98I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2288339	NM_032144.3(RAB6C):c.410C>T (p.Ser137Leu)	RAB6C (S137L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240787	NM_032144.3(RAB6C):c.307C>G (p.Gln103Glu)	RAB6C, RAB6C-AS1 (Q103E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2238010	NM_032144.3(RAB6C):c.610G>C (p.Gly204Arg)	RAB6C (G204R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203779	NM_032144.3(RAB6C):c.412G>A (p.Val138Ile)	RAB6C (V138I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 1339988	GRCh37/hg19 2q14.3-22.2(chr2:122699106-143799629)x1	ACMSD, AMER3 +64 more	Copy number loss	not provided	GPathogenic
Select item 929341	GRCh37/hg19 2q14.3-21.2(chr2:122952356-133826358)x1	AMER3, AMMECR1L +44 more	Copy number loss	See cases	GLikely pathogenic
Select item 814304	GRCh37/hg19 2q21.1(chr2:130166042-130784390)x3	RAB6C	Copy number gain	not provided	GLikely benign
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443087	GRCh37/hg19 2q14.3-21.1(chr2:129784722-131050352)x1	CCDC74B, MZT2B +4 more	Copy number loss	See cases	GUncertain significance
Select item 443063	GRCh37/hg19 2q21.1(chr2:130685932-131478005)x3	CCDC115, CCDC74B +11 more	Copy number gain	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 441838	GRCh37/hg19 2q21.1(chr2:130166042-130784390)x3	RAB6C	Copy number gain	See cases	GUncertain significance
Select item 441676	GRCh37/hg19 2q14.2-22.1(chr2:120571363-141627287)x1	ACMSD, AMER3 +74 more	Copy number loss	See cases	GPathogenic
Select item 394542	GRCh37/hg19 2q21.1(chr2:130634874-130877782)x3	POTEF, RAB6C	Copy number gain	See cases	GBenign
Select item 149324	GRCh38/hg38 2q14.3-21.1(chr2:127063206-130527454)x3	AMMECR1L, BIN1 +125 more	Copy number gain	See cases	GUncertain significance
Select item 147544	GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1	ACMSD, AMER3 +336 more	Copy number loss	See cases	GPathogenic
Select item 60184	GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1	ACMSD, AMER3 +391 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 36