Related gene-specific medical variations for Gene (Select 282808) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3312184	NM_001031834.1(RAB40AL):c.530G>A (p.Arg177Gln)	LINC00630, RAB40AL (R177Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312183	NM_001031834.1(RAB40AL):c.115G>T (p.Ala39Ser)	LINC00630, RAB40AL (A39S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150779	NM_001031834.1(RAB40AL):c.593G>T (p.Arg198Leu)	LINC00630, RAB40AL (R198L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150778	NM_001031834.1(RAB40AL):c.505G>C (p.Glu169Gln)	LINC00630, RAB40AL (E169Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2661088	NM_001031834.1(RAB40AL):c.504G>A (p.Thr168=)	LINC00630, RAB40AL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2566621	NM_001031834.1(RAB40AL):c.58G>A (p.Val20Met)	LINC00630, RAB40AL (V20M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475347	NM_001031834.1(RAB40AL):c.11C>A (p.Pro4Gln)	LINC00630, RAB40AL (P4Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465628	NM_001031834.1(RAB40AL):c.485A>G (p.Asn162Ser)	LINC00630, RAB40AL (N162S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457316	NM_001031834.1(RAB40AL):c.649G>A (p.Ala217Thr)	LINC00630, RAB40AL (A217T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290069	NM_001031834.1(RAB40AL):c.345T>A (p.His115Gln)	LINC00630, RAB40AL (H115Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280082	NM_001031834.1(RAB40AL):c.11C>T (p.Pro4Leu)	LINC00630, RAB40AL (P4L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229082	NM_001031834.1(RAB40AL):c.379C>T (p.Arg127Cys)	LINC00630, RAB40AL (R127C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1333754	NM_001031834.1(RAB40AL):c.235A>G (p.Ile79Val)	LINC00630, RAB40AL (I79V)	Single nucleotide variant (missense variant)	Deafness-intellectual disability, Martin-Probst type syndrome	GUncertain significance
Select item 1175147	NM_001031834.1(RAB40AL):c.750_752del (p.Arg251del)	LINC00630, RAB40AL (R251del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 810919	NM_001031834.1(RAB40AL):c.447C>T (p.Gly149=)	LINC00630, RAB40AL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 810918	NM_001031834.1(RAB40AL):c.435C>T (p.Ala145=)	LINC00630, RAB40AL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 810917	NM_001031834.1(RAB40AL):c.82A>G (p.Ser28Gly)	RAB40AL, LINC00630 (S28G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 810916	NM_001031834.1(RAB40AL):c.69G>C (p.Arg23Ser)	LINC00630, RAB40AL (R23S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 780080	NM_001031834.1(RAB40AL):c.15C>T (p.Gly5=)	LINC00630, RAB40AL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 618339	NM_001031834.1(RAB40AL):c.279C>T (p.Val93=)	LINC00630, RAB40AL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 618338	NM_001031834.1(RAB40AL):c.126G>A (p.Pro42=)	RAB40AL, LINC00630	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 618337	NM_001031834.1(RAB40AL):c.639G>A (p.Pro213=)	LINC00630, RAB40AL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 522932	NM_001031834.1(RAB40AL):c.2T>A (p.Met1Lys)	RAB40AL, LINC00630 (M1K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 518405	NM_001031834.1(RAB40AL):c.775A>G (p.Ile259Val)	LINC00630, RAB40AL (I259V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 440230	NM_001031834.1(RAB40AL):c.257G>A (p.Gly86Asp)	RAB40AL, LINC00630 (G86D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 440229	NM_001031834.1(RAB40AL):c.660C>G (p.Ser220Arg)	LINC00630, RAB40AL (S220R)	Single nucleotide variant (missense variant)	not specified	GConflicting classifications of pathogenicity
Select item 37017	NM_001031834.1(RAB40AL):c.176A>G (p.Asp59Gly)	RAB40AL, LINC00630 (D59G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 27