ClinVar for Gene (Select 5873) - 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 3353400	NM_183235.3(RAB27A):c.586del (p.Glu196fs)	RAB27A (E196fs)	Deletion (frameshift variant)	RAB27A-related disorder	GPathogenic
Select item 3347079	NM_183235.3(RAB27A):c.240-47_240delinsTATTTCATACGAAATTTATA	RAB27A	Indel (splice acceptor variant)	RAB27A-related disorder	GLikely pathogenic
Select item 3341467	NM_183235.3(RAB27A):c.154del	RAB27A	Deletion (splice acceptor variant)	Griscelli syndrome type 2	GLikely pathogenic
Select item 3337506	NM_183235.3(RAB27A):c.89del (p.Thr30fs)	RAB27A (T30fs)	Deletion (frameshift variant)	not provided	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 3150658	NM_183235.3(RAB27A):c.67A>T (p.Thr23Ser)	RAB27A (T23S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3150657	NM_183235.3(RAB27A):c.420G>C (p.Gln140His)	RAB27A (Q140H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3150656	NM_183235.3(RAB27A):c.280G>A (p.Gly94Ser)	RAB27A (G94S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064868	NM_183235.3(RAB27A):c.148del (p.Arg50fs)	RAB27A (R50fs)	Deletion (frameshift variant)	Griscelli syndrome type 2	GPathogenic
Select item 3063389	GRCh37/hg19 15q21.3(chr15:55527872-55621439)x1	PIGB, RAB27A	Copy number loss	not specified	GUncertain significance
Select item 3036071	NM_183235.3(RAB27A):c.96T>C (p.Gly32=)	RAB27A	Single nucleotide variant (synonymous variant)	RAB27A-related disorder	GLikely benign
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 2685517	GRCh37/hg19 15q21.3-22.2(chr15:54020810-62086530)x1	ADAM10, ALDH1A2 +35 more	Copy number loss	not provided	GPathogenic
Select item 2685513	GRCh37/hg19 15q21.1-21.3(chr15:49390592-56800964)x1	TMOD2, USP50 +43 more	Copy number loss	not provided	GPathogenic
Select item 2671585	Single allele	PIGB, RAB27A	Deletion	not provided	GLikely pathogenic
Select item 2621312	NM_183235.3(RAB27A):c.653C>A (p.Ala218Glu)	RAB27A (A218E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2425233	NC_000015.9:g.(?_55497705)_(55790527_?)del	CCPG1, DNAAF4 +3 more	Deletion	not provided	GPathogenic
Select item 2425177	NC_000015.9:g.(?_55497705)_(55727276_?)dup	CCPG1, DNAAF4 +3 more	Duplication	Griscelli syndrome type 2	GUncertain significance
Select item 2283959	NM_183235.3(RAB27A):c.599G>A (p.Arg200Gln)	RAB27A (R200Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283873	NM_183235.3(RAB27A):c.592G>A (p.Val198Met)	RAB27A (V198M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241941	NM_183235.3(RAB27A):c.173C>A (p.Pro58Gln)	RAB27A (P58Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225057	NM_183235.3(RAB27A):c.317G>A (p.Ser106Asn)	RAB27A (S106N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1809173	GRCh37/hg19 15q21.3(chr15:55346224-55967397)x3	CCPG1, DNAAF4 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +81 more	Copy number gain	not provided	GPathogenic
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 1694161	NM_183235.3(RAB27A):c.609T>C (p.Gly203=)	RAB27A	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome	GUncertain significance
Select item 1694160	NM_183235.3(RAB27A):c.596T>A (p.Val199Glu)	RAB27A (V199E)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 1694158	NM_183235.3(RAB27A):c.422_424del (p.Arg141_Val142delinsIle)	RAB27A	Deletion (inframe_indel)	Autoinflammatory syndrome	GLikely pathogenic
Select item 1694157	NM_183235.3(RAB27A):c.-3A>C	RAB27A	Single nucleotide variant (5 prime UTR variant)	Autoinflammatory syndrome	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

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