Related gene-specific medical variations for Gene (Select 7879) - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3020502	NM_004637.6(RAB7A):c.529-20T>G	LOC112872299, RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 3012538	NM_004637.6(RAB7A):c.570C>G (p.Ile190Met)	LOC112872299, RAB7A (I190M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 2893827	NM_004637.6(RAB7A):c.621C>T (p.Cys207=)	LOC112872299, RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 2684319	NM_004637.6(RAB7A):c.605C>T (p.Ala202Val)	LOC112872299, RAB7A (A202V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2389107	NM_004637.6(RAB7A):c.592G>A (p.Ala198Thr)	LOC112872299, RAB7A (A198T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B +1 more	GConflicting classifications of pathogenicity
Select item 2266933	NM_004637.6(RAB7A):c.547T>A (p.Tyr183Asn)	LOC112872299, RAB7A (Y183N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1983634	NM_004637.6(RAB7A):c.544C>A (p.Leu182Met)	LOC112872299, RAB7A (L182M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 1922844	NM_004637.6(RAB7A):c.591G>C (p.Arg197=)	RAB7A, LOC112872299	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 1707643	NM_004637.6(RAB7A):c.544C>G (p.Leu182Val)	LOC112872299, RAB7A (L182V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 1595539	NM_004637.6(RAB7A):c.543G>A (p.Glu181=)	LOC112872299, RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 1588826	NM_004637.6(RAB7A):c.529-14G>C	LOC112872299, RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 1502827	NM_004637.6(RAB7A):c.572A>G (p.Lys191Arg)	LOC112872299, RAB7A (K191R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 1471329	NM_004637.6(RAB7A):c.592G>T (p.Ala198Ser)	RAB7A, LOC112872299 (A198S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 1381919	NM_004637.6(RAB7A):c.605C>G (p.Ala202Gly)	LOC112872299, RAB7A (A202G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 1370790	NM_004637.6(RAB7A):c.602C>T (p.Ser201Leu)	LOC112872299, RAB7A (S201L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 1137471	NM_004637.6(RAB7A):c.529-6G>A	LOC112872299, RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 1134426	NM_004637.6(RAB7A):c.534G>A (p.Thr178=)	LOC112872299, RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 1125138	NM_004637.6(RAB7A):c.603G>C (p.Ser201=)	LOC112872299, RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 1120512	NM_004637.6(RAB7A):c.531A>G (p.Glu177=)	LOC112872299, RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 1091049	NM_004637.6(RAB7A):c.589C>G (p.Arg197Gly)	LOC112872299, RAB7A (R197G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 1015296	NM_004637.6(RAB7A):c.533C>T (p.Thr178Met)	LOC112872299, RAB7A (T178M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 995222	NM_004637.6(RAB7A):c.391A>G (p.Asn131Asp)	RAB7A (N131D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 939028	NM_004637.6(RAB7A):c.589C>T (p.Arg197Trp)	LOC112872299, RAB7A (R197W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 917246	NM_004637.6(RAB7A):c.529-11T>G	RAB7A, LOC112872299	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease	GLikely benign
Select item 841119	NM_004637.6(RAB7A):c.590G>A (p.Arg197Gln)	LOC112872299, RAB7A (R197Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 704349	NM_004637.6(RAB7A):c.603G>A (p.Ser201=)	LOC112872299, RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B +1 more	GLikely benign
Select item 694966	NM_004637.6(RAB7A):c.541del (p.Glu181fs)	LOC112872299, RAB7A (E181fs)	Deletion (frameshift variant)	Sodium channelopathy-related small fiber neuropathy	GUncertain significance
Select item 694965	NM_004637.6(RAB7A):c.331del (p.Ser111fs)	RAB7A (S111fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 694964	NM_004637.6(RAB7A):c.79del (p.Gln27fs)	RAB7A (Q27fs)	Deletion (frameshift variant)	Sodium channelopathy-related small fiber neuropathy	GUncertain significance
Select item 574067	NM_004637.6(RAB7A):c.568A>G (p.Ile190Val)	RAB7A, LOC112872299 (I190V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B +1 more	GConflicting classifications of pathogenicity
Select item 532741	NM_004637.6(RAB7A):c.551A>G (p.Asn184Ser)	LOC112872299, RAB7A (N184S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 464095	NM_004637.6(RAB7A):c.577G>A (p.Asp193Asn)	LOC112872299, RAB7A (D193N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 343160	NM_004637.6(RAB7A):c.552C>T (p.Asn184=)	LOC112872299, RAB7A	Single nucleotide variant (synonymous variant)	RAB7A-related disorder +2 more	GLikely benign

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Items: 33