C1868679[trait identifier] AND "Invitae"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 858465	NM_183235.3(RAB27A):c.652G>A (p.Ala218Thr)	RAB27A (A218T)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance
Select item 2078065	NM_183235.3(RAB27A):c.638_642del (p.Glu213fs)	RAB27A (E213fs)	Deletion (frameshift variant)	Griscelli syndrome type 2	GPathogenic
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 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 575435	NM_183235.3(RAB27A):c.621G>A (p.Thr207=)	RAB27A	Single nucleotide variant (synonymous variant)	Griscelli syndrome type 2	GLikely benign
Select item 2116557	NM_183235.3(RAB27A):c.619dup (p.Thr207fs)	RAB27A (T207fs)	Duplication (frameshift variant)	Griscelli syndrome type 2	GUncertain significance
Select item 574733	NM_183235.3(RAB27A):c.620C>T (p.Thr207Met)	RAB27A (T207M)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance
Select item 852095	NM_183235.3(RAB27A):c.613G>T (p.Ala205Ser)	RAB27A (A205S)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2 +1 more	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 1664964	NM_183235.3(RAB27A):c.597G>A (p.Val199=)	RAB27A	Single nucleotide variant (synonymous variant)	Griscelli syndrome type 2	GLikely benign
Select item 1039803	NM_183235.3(RAB27A):c.596T>C (p.Val199Ala)	RAB27A (V199A)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance
Select item 468591	NM_183235.3(RAB27A):c.594G>A (p.Val198=)	RAB27A	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +2 more	GBenign/Likely benign
Select item 1021357	NM_183235.3(RAB27A):c.593T>C (p.Val198Ala)	RAB27A (V198A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 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 1938246	NM_183235.3(RAB27A):c.561G>A (p.Arg187=)	RAB27A	Single nucleotide variant (synonymous variant)	Griscelli syndrome type 2	GLikely benign
Select item 235346	NM_183235.3(RAB27A):c.560G>A (p.Arg187Gln)	RAB27A (R187Q)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 665092	NM_183235.3(RAB27A):c.559C>T (p.Arg187Trp)	RAB27A (R187W)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 577472	NM_183235.3(RAB27A):c.551G>A (p.Arg184Gln)	RAB27A (R184Q)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2 +1 more	GUncertain significance
Select item 436458	NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter)	RAB27A (R184*)	Single nucleotide variant (nonsense)	Autoinflammatory syndrome +2 more	GPathogenic
Select item 655022	NM_183235.3(RAB27A):c.543A>G (p.Ile181Met)	RAB27A (I181M)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GUncertain significance
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 2712479	NM_183235.3(RAB27A):c.532C>T (p.Leu178=)	RAB27A	Single nucleotide variant (synonymous variant)	Griscelli syndrome type 2	GLikely benign
Select item 1356986	NM_183235.3(RAB27A):c.529C>T (p.Leu177Phe)	RAB27A (L177F)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance
Select item 316647	NM_183235.3(RAB27A):c.526A>T (p.Met176Leu)	RAB27A (M176L)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance
Select item 936856	NM_183235.3(RAB27A):c.520A>G (p.Ile174Val)	RAB27A (I174V)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance
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 665149	NM_183235.3(RAB27A):c.518C>G (p.Ala173Gly)	RAB27A (A173G)	Single nucleotide variant (missense variant)	RAB27A-related condition +1 more	GUncertain significance
Select item 417958	NM_183235.3(RAB27A):c.514_518del (p.Gln172fs)	RAB27A (Q172fs)	Deletion (frameshift variant)	Griscelli syndrome type 2 +2 more	GPathogenic
Select item 959518	NM_183235.3(RAB27A):c.498T>G (p.Asn166Lys)	RAB27A (N166K)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance
Select item 849272	NM_183235.3(RAB27A):c.497A>G (p.Asn166Ser)	RAB27A (N166S)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance
Select item 1132315	NM_183235.3(RAB27A):c.489T>C (p.Ser163=)	RAB27A	Single nucleotide variant (synonymous variant)	Griscelli syndrome type 2	GLikely benign
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 1580439	NM_183235.3(RAB27A):c.474C>T (p.Pro158=)	RAB27A	Single nucleotide variant (synonymous variant)	Griscelli syndrome type 2	GLikely benign
Select item 851791	NM_183235.3(RAB27A):c.473C>G (p.Pro158Arg)	RAB27A (P158R)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance
Select item 536464	NM_183235.3(RAB27A):c.468-3C>T	RAB27A	Single nucleotide variant (intron variant)	Autoinflammatory syndrome +1 more	GBenign/Likely benign
Select item 752729	NM_183235.3(RAB27A):c.468-4C>T	RAB27A	Single nucleotide variant (intron 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 2025431	NM_183235.3(RAB27A):c.468-14T>C	RAB27A	Single nucleotide variant (intron 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 641551	NC_000015.10:g.(?_55223869)_(55234954_?)del	RAB27A	Deletion	Griscelli syndrome type 2	GPathogenic
Select item 639378	NC_000015.10:g.(?_55223869)_(55224032_?)del	RAB27A	Deletion	Griscelli syndrome type 2	GPathogenic
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 582014	NM_183235.3(RAB27A):c.467+1G>C	RAB27A	Single nucleotide variant (splice donor variant)	Griscelli syndrome type 2 +1 more	GPathogenic/Likely pathogenic
Select item 967802	NM_183235.3(RAB27A):c.467G>C (p.Gly156Ala)	RAB27A (G156A)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance
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 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 798003	NM_183235.3(RAB27A):c.453C>T (p.Leu151=)	RAB27A	Single nucleotide variant (synonymous variant)	Griscelli syndrome type 2 +1 more	GConflicting classifications of pathogenicity
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 1390483	NM_183235.3(RAB27A):c.435GGA[1] (p.Glu147del)	RAB27A (E147del)	Microsatellite (inframe_deletion)	Griscelli syndrome type 2	GUncertain significance
Select item 1074152	NM_183235.3(RAB27A):c.439G>T (p.Glu147Ter)	RAB27A (E147*)	Single nucleotide variant (nonsense)	Griscelli syndrome type 2	GPathogenic
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 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 856012	NM_183235.3(RAB27A):c.425T>C (p.Val142Ala)	RAB27A (V142A)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance
Select item 839672	NM_183235.3(RAB27A):c.424G>C (p.Val142Leu)	RAB27A (V142L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 640583	NM_183235.3(RAB27A):c.423_424del (p.Arg141fs)	RAB27A (R141fs)	Microsatellite (frameshift variant)	Griscelli syndrome type 2	GPathogenic
Select item 536462	NM_183235.3(RAB27A):c.418C>G (p.Gln140Glu)	RAB27A (Q140E)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1074135	NM_183235.3(RAB27A):c.400_401del (p.Lys134fs)	RAB27A (K134fs)	Deletion (frameshift variant)	Autoinflammatory syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1167070	NM_183235.3(RAB27A):c.399C>T (p.Asn133=)	RAB27A	Single nucleotide variant (synonymous variant)	Griscelli syndrome type 2	GBenign
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 1988866	NM_183235.3(RAB27A):c.390G>A (p.Leu130=)	RAB27A	Single nucleotide variant (synonymous variant)	Griscelli syndrome type 2	GLikely benign
Select item 941674	NM_183235.3(RAB27A):c.383T>C (p.Ile128Thr)	RAB27A (I128T)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance
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 950420	NM_183235.3(RAB27A):c.377del (p.Pro126fs)	RAB27A (P126fs)	Deletion (frameshift variant)	Griscelli syndrome type 2 +1 more	GPathogenic
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 536460	NM_183235.3(RAB27A):c.365A>T (p.Tyr122Phe)	RAB27A (Y122F)	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 5990	NM_183235.3(RAB27A):c.352C>T (p.Gln118Ter)	RAB27A (Q118*)	Single nucleotide variant (nonsense)	Griscelli syndrome type 2 +1 more	GPathogenic
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 2010396	NC_000015.10:g.55224013del	RAB27A	Deletion	Griscelli syndrome type 2	GPathogenic
Select item 1351492	NM_183235.3(RAB27A):c.344G>A (p.Ser115Asn)	RAB27A (S115N)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance
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 885035	NM_183235.3(RAB27A):c.344-10A>G	RAB27A	Single nucleotide variant (intron variant)	Griscelli syndrome type 2	GConflicting classifications of pathogenicity
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 468590	NC_000015.10:g.(?_55228589)_(55234954_?)del	RAB27A	Deletion	Griscelli syndrome type 2	GPathogenic
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 2787747	NM_183235.3(RAB27A):c.343+11T>C	RAB27A	Single nucleotide variant (intron variant)	Griscelli syndrome type 2	GLikely benign
Select item 2167097	NM_183235.3(RAB27A):c.343+10A>G	RAB27A	Single nucleotide variant (intron variant)	RAB27A-related condition +1 more	GLikely benign
Select item 569432	NM_183235.3(RAB27A):c.343+6del	RAB27A	Deletion (intron variant)	Griscelli syndrome type 2	GUncertain significance
Select item 316648	NM_183235.3(RAB27A):c.343+3_343+6del	RAB27A	Microsatellite (splice donor variant)	Griscelli syndrome type 2 +1 more	GUncertain significance
Select item 1405677	NM_183235.3(RAB27A):c.343+3A>G	RAB27A	Single nucleotide variant (intron variant)	Griscelli syndrome type 2	GUncertain significance
Select item 1008019	NM_183235.3(RAB27A):c.342A>T (p.Ile114=)	RAB27A	Single nucleotide variant (synonymous variant)	Griscelli syndrome type 2	GLikely benign
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 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 1409958	NM_183235.3(RAB27A):c.335del (p.Asn112fs)	RAB27A (N112fs)	Deletion (frameshift variant)	Griscelli syndrome type 2	GPathogenic
Select item 1346741	NM_183235.3(RAB27A):c.331A>G (p.Arg111Gly)	RAB27A (R111G)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance
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 1373296	NM_183235.3(RAB27A):c.307A>C (p.Asn103His)	RAB27A (N103H)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance
Select item 885036	NM_183235.3(RAB27A):c.307A>G (p.Asn103Asp)	RAB27A (N103D)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +2 more	GUncertain significance
Select item 1391132	NM_183235.3(RAB27A):c.295T>C (p.Phe99Leu)	RAB27A (F99L)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2	GUncertain significance
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 2173607	NM_183235.3(RAB27A):c.288T>C (p.Leu96=)	RAB27A	Single nucleotide variant (synonymous variant)	Griscelli syndrome type 2	GLikely benign
Select item 748370	NM_183235.3(RAB27A):c.276T>C (p.Ala92=)	RAB27A	Single nucleotide variant (synonymous variant)	Griscelli syndrome type 2	GLikely benign
Select item 566199	NM_183235.3(RAB27A):c.275C>T (p.Ala92Val)	RAB27A (A92V)	Single nucleotide variant (missense variant)	Griscelli syndrome type 2 +1 more	GUncertain significance
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 1556207	NM_183235.3(RAB27A):c.261G>A (p.Ala87=)	RAB27A	Single nucleotide variant (synonymous variant)	Griscelli syndrome type 2	GLikely benign
Select item 1348201	NM_183235.3(RAB27A):c.260C>T (p.Ala87Val)	RAB27A (A87V)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
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

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