Related gene-specific medical variations for Gene (Select 100287765) - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	LINC00630, RAB40AL (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 691858	NC_000023.11:g.102811122T>C	ARMCX5-GPRASP2, LINC00630	Single nucleotide variant	not specified	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=)	LINC00630, RAB40AL	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)	Deafness-intellectual disability, Martin-Probst type syndrome +1 more	GBenign
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)	LINC00630, RAB40AL (D59G)	Single nucleotide variant (missense variant)	Deafness-intellectual disability, Martin-Probst type syndrome	GUncertain significance

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Links from Gene

Items: 26