"GeneDx"[submitter] AND "RAB7A"[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151827	GRCh38/hg38 3q21.3(chr3:128640600-128784746)x3	LOC129937522, LOC129937523 +9 more	Copy number gain	See cases	GUncertain significance
Select item 343154	NM_004637.6(RAB7A):c.-97C>G	RAB7A	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease type 2B +1 more	GBenign/Likely benign
Select item 138862	NM_004637.6(RAB7A):c.-29G>T	RAB7A	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 343156	NM_004637.6(RAB7A):c.-18A>G	RAB7A	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1683833	NM_004637.6(RAB7A):c.-9+28G>T	RAB7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1254709	NM_004637.6(RAB7A):c.-9+220G>T	RAB7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 57792	GRCh38/hg38 3q21.3(chr3:128735053-128967179)x3	ACAD9, ACAD9-DT +9 more	Copy number gain	See cases	GUncertain significance
Select item 671681	NM_004637.6(RAB7A):c.-8-280A>G	RAB7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674517	NM_004637.6(RAB7A):c.-8-142T>G	RAB7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 382633	NM_004637.6(RAB7A):c.-8-12T>C	RAB7A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 386584	NM_004637.6(RAB7A):c.-6T>C	RAB7A	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 464094	NM_004637.6(RAB7A):c.21G>A (p.Val7=)	RAB7A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 1211274	NM_004637.6(RAB7A):c.53+75G>A	RAB7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678234	NM_004637.6(RAB7A):c.53+233T>C	RAB7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673461	NM_004637.6(RAB7A):c.54-334A>G	RAB7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206749	NM_004637.6(RAB7A):c.54-207C>T	RAB7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 388226	NM_004637.6(RAB7A):c.54-17T>C	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B +1 more	GLikely benign
Select item 343157	NM_004637.6(RAB7A):c.87G>A (p.Val29=)	RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B +3 more	GBenign/Likely benign
Select item 245880	NM_004637.6(RAB7A):c.167T>C (p.Leu56Pro)	RAB7A (L56P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 464093	NM_004637.6(RAB7A):c.180+9A>G	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +3 more	GLikely benign
Select item 1216030	NM_004637.6(RAB7A):c.180+242A>C	RAB7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671937	NM_004637.6(RAB7A):c.181-270C>T	RAB7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 382127	NM_004637.6(RAB7A):c.183A>C (p.Ile61=)	RAB7A	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 387199	NM_004637.6(RAB7A):c.213G>A (p.Gln71=)	RAB7A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 138863	NM_004637.6(RAB7A):c.219C>T (p.Leu73=)	RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B +3 more	GBenign
Select item 1243660	NM_004637.6(RAB7A):c.399+276C>T	RAB7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674518	NM_004637.6(RAB7A):c.400-179A>G	RAB7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678235	NM_004637.6(RAB7A):c.400-49G>T	RAB7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678236	NM_004637.6(RAB7A):c.400-48C>G	RAB7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 285287	NM_004637.6(RAB7A):c.423C>G (p.Ala141=)	RAB7A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 805267	NM_004637.6(RAB7A):c.466G>A (p.Ala156Thr)	RAB7A (A156T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B +1 more	GConflicting classifications of pathogenicity
Select item 343159	NM_004637.6(RAB7A):c.495G>A (p.Ala165=)	RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B +2 more	GBenign/Likely benign
Select item 450813	NM_004637.6(RAB7A):c.506T>C (p.Ile169Thr)	RAB7A (I169T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B +1 more	GUncertain significance
Select item 1210812	NM_004637.6(RAB7A):c.529-249T>C	RAB7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196390	NM_004637.6(RAB7A):c.529-187T>A	RAB7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213456	NM_004637.6(RAB7A):c.*165AC[9]	RAB7A	Microsatellite (3 prime UTR variant)	not provided	GLikely benign
Select item 1215479	NM_004637.6(RAB7A):c.*165AC[7]	RAB7A	Microsatellite (3 prime UTR variant)	not provided	GLikely benign
Select item 1229355	NM_004637.6(RAB7A):c.181_194del	RAB7A	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 343165	NM_004637.6(RAB7A):c.*182CA[9]	RAB7A	Microsatellite (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 343166	NM_004637.6(RAB7A):c.*183A>G	RAB7A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 343167	NM_004637.6(RAB7A):c.*189A>G	RAB7A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 343168	NM_004637.6(RAB7A):c.*206G>A	RAB7A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 3361469	NM_004637.6(RAB7A):c.206G>A (p.Arg69Gln)	RAB7A (R69Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 43