ClinVar for MedGen (Select 357030) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3363143	NM_183235.3(RAB27A):c.514C>T (p.Gln172Ter)	RAB27A (Q172*)	Single nucleotide variant (nonsense)	Griscelli syndrome type 2	GLikely pathogenic
Select item 3341467	NM_183235.3(RAB27A):c.154del	RAB27A	Deletion (splice acceptor variant)	Griscelli syndrome type 2	GLikely pathogenic
Select item 3243802	NC_000015.9:g.(?_55520787)_(55522704_?)del	RAB27A	Deletion	Griscelli syndrome type 2	GPathogenic
Select item 3243801	NC_000015.9:g.(?_55522579)_(55522704_?)del	RAB27A	Deletion	Griscelli syndrome type 2	GPathogenic
Select item 3064868	NM_183235.3(RAB27A):c.148del (p.Arg50fs)	RAB27A (R50fs)	Deletion (frameshift variant)	Griscelli syndrome type 2	GPathogenic
Select item 3010221	NM_183235.3(RAB27A):c.239+9T>A	RAB27A	Single nucleotide variant (intron variant)	Griscelli syndrome type 2	GLikely benign
Select item 3003610	NM_183235.3(RAB27A):c.35T>C (p.Phe12Ser)	RAB27A (F12S)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance
Select item 3002336	NM_183235.3(RAB27A):c.612T>C (p.His204=)	RAB27A	Single nucleotide variant (synonymous variant)	Griscelli syndrome type 2	GLikely benign
Select item 2980992	NM_183235.3(RAB27A):c.468-7C>A	RAB27A	Single nucleotide variant (intron variant)	Griscelli syndrome type 2	GLikely benign
Select item 2968327	NM_183235.3(RAB27A):c.33G>A (p.Lys11=)	RAB27A	Single nucleotide variant (synonymous variant)	Griscelli syndrome type 2	GLikely benign
Select item 2961819	NM_183235.3(RAB27A):c.396A>G (p.Gly132=)	RAB27A	Single nucleotide variant (synonymous variant)	Griscelli syndrome type 2	GLikely benign
Select item 2918581	NM_183235.3(RAB27A):c.240-17T>G	RAB27A	Single nucleotide variant (intron variant)	Griscelli syndrome type 2	GLikely benign
Select item 2917110	NM_183235.3(RAB27A):c.344-7T>C	RAB27A	Single nucleotide variant (intron variant)	Griscelli syndrome type 2	GLikely benign
Select item 2904034	NM_183235.3(RAB27A):c.87T>C (p.Tyr29=)	RAB27A	Single nucleotide variant (synonymous variant)	Griscelli syndrome type 2	GLikely benign
Select item 2876124	NM_183235.3(RAB27A):c.343+17C>T	RAB27A	Single nucleotide variant (intron variant)	Griscelli syndrome type 2	GLikely benign
Select item 2865253	NM_183235.3(RAB27A):c.259G>T (p.Ala87Ser)	RAB27A (A87S)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GLikely pathogenic
Select item 2852056	NM_183235.3(RAB27A):c.467+1G>T	RAB27A	Single nucleotide variant (splice donor variant)	Griscelli syndrome type 2	GLikely pathogenic
Select item 2793091	NM_183235.3(RAB27A):c.154-7G>C	RAB27A	Single nucleotide variant (intron variant)	Griscelli syndrome type 2	GLikely benign
Select item 2787747	NM_183235.3(RAB27A):c.343+11T>C	RAB27A	Single nucleotide variant (intron variant)	Griscelli syndrome type 2	GLikely benign
Select item 2783131	NM_183235.3(RAB27A):c.112T>C (p.Phe38Leu)	RAB27A (F38L)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance
Select item 2751128	NM_183235.3(RAB27A):c.431A>G (p.Lys144Arg)	RAB27A (K144R)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance
Select item 2723173	NM_183235.3(RAB27A):c.239+4T>G	RAB27A	Single nucleotide variant (intron variant)	Griscelli syndrome type 2	GUncertain significance
Select item 2712479	NM_183235.3(RAB27A):c.532C>T (p.Leu178=)	RAB27A	Single nucleotide variant (synonymous variant)	Griscelli syndrome type 2	GLikely benign
Select item 2710378	NM_183235.3(RAB27A):c.465T>A (p.Tyr155Ter)	RAB27A (Y155*)	Single nucleotide variant (nonsense)	Griscelli syndrome type 2	GPathogenic
Select item 2703388	NM_183235.3(RAB27A):c.192A>G (p.Arg64=)	RAB27A	Single nucleotide variant (synonymous variant)	Griscelli syndrome type 2	GLikely benign
Select item 2700453	NM_183235.3(RAB27A):c.239+9T>C	RAB27A	Single nucleotide variant (intron variant)	Griscelli syndrome type 2	GLikely benign
Select item 2573205	NM_183235.3(RAB27A):c.509_510del (p.Ile170fs)	RAB27A (I170fs)	Deletion (frameshift variant)	Griscelli syndrome type 2	GLikely pathogenic
Select item 2501797	NM_183235.3(RAB27A):c.467+3_467+6del	RAB27A	Deletion (splice donor variant)	Griscelli syndrome type 2	GPathogenic
Select item 2435351	NM_183235.3(RAB27A):c.259G>A (p.Ala87Thr)	RAB27A (A87T)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance
Select item 2435350	NM_183235.3(RAB27A):c.337T>C (p.Trp113Arg)	RAB27A (W113R)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance
Select item 2425177	NC_000015.9:g.(?_55497705)_(55727276_?)dup	CCPG1, DNAAF4 +3 more	Duplication	Griscelli syndrome type 2	GUncertain significance
Select item 2173607	NM_183235.3(RAB27A):c.288T>C (p.Leu96=)	RAB27A	Single nucleotide variant (synonymous variant)	Griscelli syndrome type 2	GLikely benign
Select item 2167097	NM_183235.3(RAB27A):c.343+10A>G	RAB27A	Single nucleotide variant (intron variant)	Griscelli syndrome type 2	GLikely benign
Select item 2137719	NM_183235.3(RAB27A):c.220G>C (p.Asp74His)	RAB27A (D74H)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GLikely pathogenic
Select item 2137718	NM_183235.3(RAB27A):c.240-2A>C	RAB27A	Single nucleotide variant (splice acceptor variant)	Griscelli syndrome type 2	GPathogenic
Select item 2137717	NM_183235.3(RAB27A):c.428T>C (p.Val143Ala)	RAB27A (V143A)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GLikely pathogenic
Select item 2137716	NM_183235.3(RAB27A):c.476A>G (p.Tyr159Cys)	RAB27A (Y159C)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GLikely pathogenic
Select item 2137715	NM_183235.3(RAB27A):c.662G>A (p.Cys221Tyr)	RAB27A (C221Y)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance
Select item 2116557	NM_183235.3(RAB27A):c.619dup (p.Thr207fs)	RAB27A (T207fs)	Duplication (frameshift variant)	Griscelli syndrome type 2	GUncertain significance
Select item 2110878	NM_183235.3(RAB27A):c.592G>T (p.Val198Leu)	RAB27A (V198L)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance
Select item 2099459	NM_183235.3(RAB27A):c.154-7G>A	RAB27A	Single nucleotide variant (intron variant)	Griscelli syndrome type 2	GLikely benign
Select item 2093389	NM_183235.3(RAB27A):c.91G>A (p.Asp31Asn)	RAB27A (D31N)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance
Select item 2089534	NM_183235.3(RAB27A):c.351A>G (p.Leu117=)	RAB27A	Single nucleotide variant (synonymous variant)	Griscelli syndrome type 2	GLikely benign
Select item 2078065	NM_183235.3(RAB27A):c.638_642del (p.Glu213fs)	RAB27A (E213fs)	Deletion (frameshift variant)	Griscelli syndrome type 2	GPathogenic
Select item 2070790	NM_183235.3(RAB27A):c.273T>G (p.Asp91Glu)	RAB27A (D91E)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance
Select item 2061484	NM_183235.3(RAB27A):c.93T>C (p.Asp31=)	RAB27A	Single nucleotide variant (synonymous variant)	Griscelli syndrome type 2	GLikely benign
Select item 2052140	NM_183235.3(RAB27A):c.254C>T (p.Thr85Met)	RAB27A (T85M)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance
Select item 2048141	NM_183235.3(RAB27A):c.355A>G (p.Met119Val)	RAB27A (M119V)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance
Select item 2047437	NM_183235.3(RAB27A):c.147_148del (p.Arg50fs)	RAB27A (R50fs)	Deletion (frameshift variant)	Griscelli syndrome type 2	GPathogenic
Select item 2025431	NM_183235.3(RAB27A):c.468-14T>C	RAB27A	Single nucleotide variant (intron variant)	Griscelli syndrome type 2	GLikely benign
Select item 2024872	NM_183235.3(RAB27A):c.57T>C (p.Gly19=)	RAB27A	Single nucleotide variant (synonymous variant)	Griscelli syndrome type 2	GLikely benign
Select item 2010396	NC_000015.10:g.55224013del	RAB27A	Deletion	Griscelli syndrome type 2	GPathogenic
Select item 1992236	NM_183235.3(RAB27A):c.153+14C>A	RAB27A	Single nucleotide variant (intron variant)	Griscelli syndrome type 2	GLikely benign
Select item 1988866	NM_183235.3(RAB27A):c.390G>A (p.Leu130=)	RAB27A	Single nucleotide variant (synonymous variant)	Griscelli syndrome type 2	GLikely benign
Select item 1971904	NM_183235.3(RAB27A):c.181G>C (p.Ala61Pro)	RAB27A (A61P)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance
Select item 1961056	NM_183235.3(RAB27A):c.229G>A (p.Gly77Arg)	RAB27A (G77R)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GLikely pathogenic
Select item 1953396	NM_183235.3(RAB27A):c.568G>A (p.Asp190Asn)	RAB27A (D190N)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance
Select item 1947552	NM_183235.3(RAB27A):c.368G>A (p.Cys123Tyr)	RAB27A (C123Y)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance
Select item 1938246	NM_183235.3(RAB27A):c.561G>A (p.Arg187=)	RAB27A	Single nucleotide variant (synonymous variant)	Griscelli syndrome type 2	GLikely benign
Select item 1901744	NM_183235.3(RAB27A):c.309T>C (p.Asn103=)	RAB27A	Single nucleotide variant (synonymous variant)	Griscelli syndrome type 2	GLikely benign
Select item 1718882	NM_183235.3(RAB27A):c.542T>A (p.Ile181Lys)	RAB27A (I181K)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance
Select item 1694156	NM_183235.3(RAB27A):c.239+1G>T	RAB27A	Single nucleotide variant (splice donor variant)	Griscelli syndrome type 2 +1 more	GPathogenic
Select item 1694155	NM_183235.3(RAB27A):c.153+10A>G	RAB27A	Single nucleotide variant (intron variant)	Griscelli syndrome type 2 +1 more	GConflicting classifications of pathogenicity
Select item 1690311	NC_000015.9:g.55514530_55552423dup	RAB27A	Duplication	Griscelli syndrome type 2	GPathogenic
Select item 1690310	NM_183235.3(RAB27A):c.467+5G>A	RAB27A	Single nucleotide variant (intron variant)	Griscelli syndrome type 2	GPathogenic
Select item 1690309	NM_183235.3(RAB27A):c.136T>A (p.Phe46Ile)	RAB27A (F46I)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 1690308	NM_183235.3(RAB27A):c.400A>G (p.Lys134Glu)	RAB27A (K134E)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GPathogenic
Select item 1690307	NM_183235.3(RAB27A):c.598C>T (p.Arg200Ter)	RAB27A (R200*)	Single nucleotide variant (nonsense)	Griscelli syndrome type 2	GPathogenic
Select item 1673624	NM_183235.3(RAB27A):c.252A>G (p.Leu84=)	RAB27A	Single nucleotide variant (synonymous variant)	Griscelli syndrome type 2	GLikely benign
Select item 1664964	NM_183235.3(RAB27A):c.597G>A (p.Val199=)	RAB27A	Single nucleotide variant (synonymous variant)	Griscelli syndrome type 2	GLikely benign
Select item 1645351	NM_183235.3(RAB27A):c.255G>A (p.Thr85=)	RAB27A	Single nucleotide variant (synonymous variant)	Griscelli syndrome type 2	GLikely benign
Select item 1639114	NM_183235.3(RAB27A):c.148A>C (p.Arg50=)	RAB27A	Single nucleotide variant (synonymous variant)	Griscelli syndrome type 2	GLikely benign
Select item 1637579	NM_183235.3(RAB27A):c.519A>G (p.Ala173=)	RAB27A	Single nucleotide variant (synonymous variant)	Griscelli syndrome type 2	GLikely benign
Select item 1597734	NM_183235.3(RAB27A):c.153+20A>G	RAB27A	Single nucleotide variant (intron variant)	Griscelli syndrome type 2	GLikely benign
Select item 1594073	NM_183235.3(RAB27A):c.240-5C>T	RAB27A	Single nucleotide variant (intron variant)	Griscelli syndrome type 2	GLikely benign
Select item 1580439	NM_183235.3(RAB27A):c.474C>T (p.Pro158=)	RAB27A	Single nucleotide variant (synonymous variant)	Griscelli syndrome type 2	GLikely benign
Select item 1579479	NM_183235.3(RAB27A):c.468-16T>C	RAB27A	Single nucleotide variant (intron variant)	Griscelli syndrome type 2	GLikely benign
Select item 1577777	NM_183235.3(RAB27A):c.153+12A>T	RAB27A	Single nucleotide variant (intron variant)	Griscelli syndrome type 2	GLikely benign
Select item 1570775	NM_183235.3(RAB27A):c.239+15G>C	RAB27A	Single nucleotide variant (intron variant)	Griscelli syndrome type 2	GLikely benign
Select item 1565378	NM_183235.3(RAB27A):c.289C>T (p.Leu97=)	RAB27A	Single nucleotide variant (synonymous variant)	Griscelli syndrome type 2	GLikely benign
Select item 1560102	NM_183235.3(RAB27A):c.239+19T>C	RAB27A	Single nucleotide variant (intron variant)	Griscelli syndrome type 2	GLikely benign
Select item 1556207	NM_183235.3(RAB27A):c.261G>A (p.Ala87=)	RAB27A	Single nucleotide variant (synonymous variant)	Griscelli syndrome type 2	GLikely benign
Select item 1545125	NM_183235.3(RAB27A):c.240-9T>C	RAB27A	Single nucleotide variant (intron variant)	Griscelli syndrome type 2	GLikely benign
Select item 1532457	NM_183235.3(RAB27A):c.344-13C>G	RAB27A	Single nucleotide variant (intron variant)	Griscelli syndrome type 2	GLikely benign
Select item 1523424	NM_183235.3(RAB27A):c.130A>G (p.Ile44Val)	RAB27A (I44V)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2 +1 more	GUncertain significance
Select item 1519012	NM_183235.3(RAB27A):c.239G>C (p.Arg80Thr)	RAB27A (R80T)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GPathogenic
Select item 1504505	NM_183235.3(RAB27A):c.445A>G (p.Ile149Val)	RAB27A (I149V)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance
Select item 1484982	NM_183235.3(RAB27A):c.627G>C (p.Gln209His)	RAB27A (Q209H)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance
Select item 1483643	NM_183235.3(RAB27A):c.49G>A (p.Asp17Asn)	RAB27A (D17N)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance
Select item 1483499	NM_183235.3(RAB27A):c.121A>C (p.Thr41Pro)	RAB27A (T41P)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GLikely pathogenic
Select item 1461437	NM_183235.3(RAB27A):c.379G>A (p.Asp127Asn)	RAB27A (D127N)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance
Select item 1459351	NC_000015.9:g.(?_55526960)_(55613608_?)del	PIGB, RAB27A	Deletion	Griscelli syndrome type 2	GPathogenic
Select item 1453208	NM_183235.3(RAB27A):c.460A>T (p.Lys154Ter)	RAB27A (K154*)	Single nucleotide variant (nonsense)	Griscelli syndrome type 2	GPathogenic
Select item 1443147	NM_183235.3(RAB27A):c.454G>A (p.Ala152Thr)	RAB27A (A152T)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance
Select item 1424911	NM_183235.3(RAB27A):c.636A>C (p.Glu212Asp)	RAB27A (E212D)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance
Select item 1422906	NM_183235.3(RAB27A):c.340A>G (p.Ile114Val)	RAB27A (I114V)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance
Select item 1419009	NM_183235.3(RAB27A):c.239+5G>C	RAB27A	Single nucleotide variant (intron variant)	Griscelli syndrome type 2	GUncertain significance
Select item 1409958	NM_183235.3(RAB27A):c.335del (p.Asn112fs)	RAB27A (N112fs)	Deletion (frameshift variant)	Griscelli syndrome type 2	GPathogenic
Select item 1408103	NM_183235.3(RAB27A):c.227C>T (p.Ala76Val)	RAB27A (A76V)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GPathogenic
Select item 1405677	NM_183235.3(RAB27A):c.343+3A>G	RAB27A	Single nucleotide variant (intron variant)	Griscelli syndrome type 2	GUncertain significance

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