RABGAP1L[gene] and "single gene"[properties] - ClinVar

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

Search results

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1322005	NM_001366446.1(RABGAP1L):c.-34+24490G>A	RABGAP1L	Single nucleotide variant (intron variant)	Cholesteatoma	GLikely pathogenic
Select item 2386828	NM_001366446.1(RABGAP1L):c.41C>T (p.Ser14Phe)	RABGAP1L (S14F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3150901	NM_001366446.1(RABGAP1L):c.199G>A (p.Glu67Lys)	RABGAP1L (E30K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2639569	NM_001366446.1(RABGAP1L):c.234A>G (p.Gln78=)	RABGAP1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3150904	NM_001366446.1(RABGAP1L):c.238T>G (p.Ser80Ala)	RABGAP1L (S80A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150906	NM_001366446.1(RABGAP1L):c.418A>G (p.Met140Val)	RABGAP1L (M103V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218106	NM_001366446.1(RABGAP1L):c.470C>A (p.Thr157Asn)	RABGAP1L (T120N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312227	NM_001366446.1(RABGAP1L):c.493C>T (p.Pro165Ser)	RABGAP1L (P128S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1335000	NM_001366446.1(RABGAP1L):c.586A>G (p.Ile196Val)	RABGAP1L (I159V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3150907	NM_001366446.1(RABGAP1L):c.590A>G (p.Tyr197Cys)	RABGAP1L (Y197C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307478	NM_001366446.1(RABGAP1L):c.592A>G (p.Lys198Glu)	RABGAP1L (K198E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150908	NM_001366446.1(RABGAP1L):c.608C>T (p.Ala203Val)	RABGAP1L (A166V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264889	NM_001366446.1(RABGAP1L):c.614G>C (p.Gly205Ala)	RABGAP1L (G168A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353071	NM_001366446.1(RABGAP1L):c.626C>T (p.Thr209Ile)	RABGAP1L (T172I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150909	NM_001366446.1(RABGAP1L):c.712G>C (p.Glu238Gln)	RABGAP1L (E238Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380848	NM_001366446.1(RABGAP1L):c.755A>G (p.Lys252Arg)	RABGAP1L (K252R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290244	NM_001366446.1(RABGAP1L):c.791C>T (p.Ser264Leu)	RABGAP1L (S227L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337650	NM_001366446.1(RABGAP1L):c.803C>A (p.Thr268Asn)	RABGAP1L (T268N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373261	NM_001366446.1(RABGAP1L):c.830G>T (p.Ser277Ile)	RABGAP1L (S240I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150910	NM_001366446.1(RABGAP1L):c.929A>G (p.Glu310Gly)	RABGAP1L (E310G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273077	NM_001366446.1(RABGAP1L):c.1021G>A (p.Val341Met)	RABGAP1L (V304M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2639570	NM_001366446.1(RABGAP1L):c.1135C>T (p.Leu379Phe)	RABGAP1L (L26F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2319267	NM_001366446.1(RABGAP1L):c.1244G>T (p.Arg415Leu)	RABGAP1L (R62L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312228	NM_001366446.1(RABGAP1L):c.1283G>T (p.Arg428Ile)	RABGAP1L (R75I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306624	NM_001366446.1(RABGAP1L):c.1292T>C (p.Phe431Ser)	RABGAP1L (F394S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352812	NM_001366446.1(RABGAP1L):c.1346A>T (p.Asn449Ile)	RABGAP1L (N412I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596817	NM_001366446.1(RABGAP1L):c.1382A>G (p.Gln461Arg)	RABGAP1L (Q424R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528007	NM_001366446.1(RABGAP1L):c.1402G>C (p.Glu468Gln)	RABGAP1L (E115Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371907	NM_001366446.1(RABGAP1L):c.1435A>G (p.Met479Val)	RABGAP1L (M126V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150898	NM_001366446.1(RABGAP1L):c.1532A>G (p.Tyr511Cys)	RABGAP1L (Y511C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150899	NM_001366446.1(RABGAP1L):c.1535C>T (p.Ser512Phe)	RABGAP1L (S512F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258151	NM_001366446.1(RABGAP1L):c.1699C>T (p.Leu567Phe)	RABGAP1L (L530F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 147868	GRCh38/hg38 1q25.1(chr1:174499030-174687658)x1	RABGAP1L	Copy number loss	See cases	GBenign
Select item 2301633	NM_001366446.1(RABGAP1L):c.1742A>T (p.Asp581Val)	RABGAP1L (D544V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150900	NM_001366446.1(RABGAP1L):c.1769A>T (p.Asp590Val)	RABGAP1L (D553V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2639571	NM_001366446.1(RABGAP1L):c.1800A>G (p.Gln600=)	RABGAP1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2331740	NM_001366446.1(RABGAP1L):c.1939A>G (p.Met647Val)	RABGAP1L (M610V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539561	NM_001366446.1(RABGAP1L):c.2007G>C (p.Gln669His)	RABGAP1L (Q632H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312229	NM_001366446.1(RABGAP1L):c.2246A>T (p.Glu749Val)	RABGAP1L (E749V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3150902	NM_001366446.1(RABGAP1L):c.2263T>G (p.Phe755Val)	RABGAP1L (F62V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2565522	NM_001366446.1(RABGAP1L):c.2324A>G (p.Gln775Arg)	RABGAP1L (Q82R +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3150903	NM_001366446.1(RABGAP1L):c.2325G>C (p.Gln775His)	RABGAP1L (Q738H +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3150905	NM_001366446.1(RABGAP1L):c.2390G>A (p.Arg797Gln)	RABGAP1L (R54Q +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2639572	NM_001366446.1(RABGAP1L):c.3134A>C (p.Gln1045Pro)	RABGAP1L (Q1045P +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2685765	GRCh37/hg19 1q25.1(chr1:174507927-174675068)x1	RABGAP1L	Copy number loss	not provided	GUncertain significance
Select item 565198	GRCh37/hg19 1q25.1(chr1:174596959-174747357)x1	RABGAP1L	Copy number loss	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

Search results

Items: 46