ClinVar for Gene (Select 6729) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3365238	NM_003136.4(SRP54):c.599_602del (p.Ser200fs)	SRP54 (S151fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3360929	NM_003136.4(SRP54):c.695A>T (p.Gln232Leu)	SRP54 (Q183L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3244086	NC_000014.8:g.(?_35465916)_(35488300_?)dup	SRP54	Duplication	not provided	GUncertain significance
Select item 3244085	NC_000014.8:g.(?_35488152)_(35498358_?)dup	SRP54	Duplication	not provided	GUncertain significance
Select item 3244084	NC_000014.8:g.(?_35465916)_(35498358_?)dup	SRP54	Duplication	not provided	GUncertain significance
Select item 3244082	NC_000014.8:g.(?_35465916)_(35498358_?)del	SRP54	Deletion	not provided	GUncertain significance
Select item 3170020	NM_003136.4(SRP54):c.1201G>A (p.Gly401Arg)	SRP54 (G352R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3065819	NM_003136.4(SRP54):c.1008T>A (p.Phe336Leu)	SRP54 (F287L +1 more)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 8, autosomal dominant	GLikely benign
Select item 3063339	GRCh37/hg19 14q13.1-13.2(chr14:35059946-35787671)x3	BAZ1A, CFL2 +6 more	Copy number gain	not specified	GUncertain significance
Select item 3063324	GRCh37/hg19 14q12-21.2(chr14:29190489-45325177)x1	AKAP6, AP4S1 +48 more	Copy number loss	not specified	GPathogenic
Select item 3063313	GRCh37/hg19 14q13.2(chr14:35360640-35936592)x3	FAM177A1, NFKBIA +4 more	Copy number gain	not specified	GUncertain significance
Select item 3059805	NM_003136.4(SRP54):c.786-5dup	SRP54	Duplication (intron variant)	SRP54-related disorder	GLikely benign
Select item 3022614	NM_003136.4(SRP54):c.785+18T>C	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021792	NM_003136.4(SRP54):c.1328-6C>T	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020710	NM_003136.4(SRP54):c.486-17T>C	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011705	NM_003136.4(SRP54):c.459C>T (p.Thr153=)	SRP54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011436	NM_003136.4(SRP54):c.795C>T (p.Ala265=)	SRP54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009062	NM_003136.4(SRP54):c.485+11G>A	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997164	NM_003136.4(SRP54):c.486-13C>A	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996807	NM_003136.4(SRP54):c.561T>G (p.Ile187Met)	SRP54 (I138M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992379	NM_003136.4(SRP54):c.1156+16A>C	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987559	NM_003136.4(SRP54):c.1032C>G (p.Pro344=)	SRP54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986049	NM_003136.4(SRP54):c.79-9T>G	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984379	NM_003136.4(SRP54):c.90T>C (p.Ala30=)	SRP54	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2977208	NM_003136.4(SRP54):c.361-12T>G	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974840	NM_003136.4(SRP54):c.79-16A>G	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969145	NM_003136.4(SRP54):c.1332C>T (p.Gly444=)	SRP54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968015	NM_003136.4(SRP54):c.786-5del	SRP54	Deletion (intron variant)	not provided	GLikely benign
Select item 2960750	NM_003136.4(SRP54):c.255+4A>C	SRP54	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2960125	NM_003136.4(SRP54):c.360+14_360+15del	SRP54	Deletion (intron variant)	not provided	GLikely benign
Select item 2955917	NM_003136.4(SRP54):c.1178C>G (p.Ala393Gly)	SRP54 (A344G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2909524	NM_003136.4(SRP54):c.649A>G (p.Ile217Val)	SRP54 (I217V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2898178	NM_003136.4(SRP54):c.1328-5dup	SRP54	Duplication (intron variant)	not provided	GBenign
Select item 2884289	NM_003136.4(SRP54):c.789C>T (p.Val263=)	SRP54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878304	NM_003136.4(SRP54):c.1328-5del	SRP54	Deletion (intron variant)	not provided	GBenign
Select item 2877453	NM_003136.4(SRP54):c.385G>A (p.Gly129Ser)	SRP54 (G80S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2877045	NM_003136.4(SRP54):c.560T>C (p.Ile187Thr)	SRP54 (I187T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872799	NM_003136.4(SRP54):c.90T>G (p.Ala30=)	SRP54	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2870179	NM_003136.4(SRP54):c.1483A>T (p.Met495Leu)	SRP54 (M438L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868790	NM_003136.4(SRP54):c.1419C>T (p.His473=)	SRP54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867426	NM_003136.4(SRP54):c.1327+15C>T	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2866321	NM_003136.4(SRP54):c.1496T>C (p.Met499Thr)	SRP54 (M450T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2865002	NM_003136.4(SRP54):c.887-4A>T	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841331	NM_003136.4(SRP54):c.171-4A>G	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2836832	NM_003136.4(SRP54):c.1184T>G (p.Val395Gly)	SRP54 (V395G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2836423	NM_003136.4(SRP54):c.292A>G (p.Lys98Glu)	SRP54 (K98E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2835459	NM_003136.4(SRP54):c.836T>C (p.Ile279Thr)	SRP54 (I230T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2831534	NM_003136.4(SRP54):c.636+19A>G	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2829612	NM_003136.4(SRP54):c.1065T>G (p.Phe355Leu)	SRP54 (F355L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2826551	NM_003136.4(SRP54):c.1507A>C (p.Asn503His)	SRP54 (N454H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2818129	NM_003136.4(SRP54):c.533A>C (p.Lys178Thr)	SRP54 (K178T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2813220	NM_003136.4(SRP54):c.1223G>C (p.Arg408Thr)	SRP54 (R359T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2808397	NM_003136.4(SRP54):c.1473T>A (p.Ala491=)	SRP54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2803309	NM_003136.4(SRP54):c.1002G>T (p.Glu334Asp)	SRP54 (E334D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2800630	NM_003136.4(SRP54):c.539A>G (p.Lys180Arg)	SRP54 (K131R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2799279	NM_003136.4(SRP54):c.786-11T>C	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790488	NM_003136.4(SRP54):c.78+13T>C	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2787809	NM_003136.4(SRP54):c.786-17T>G	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2787680	NM_003136.4(SRP54):c.846T>C (p.Phe282=)	SRP54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2786982	NM_003136.4(SRP54):c.786-7T>A	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2771647	NM_003136.4(SRP54):c.1423+12G>A	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2768820	NM_003136.4(SRP54):c.510C>G (p.Ile170Met)	SRP54 (I170M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2766018	NM_003136.4(SRP54):c.427+14A>G	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2760691	NM_003136.4(SRP54):c.170+20T>A	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2757354	NM_003136.4(SRP54):c.453T>G (p.Asn151Lys)	SRP54 (N102K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2753606	NM_003136.4(SRP54):c.784G>A (p.Ala262Thr)	SRP54 (A213T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2753249	NM_003136.4(SRP54):c.1105A>T (p.Met369Leu)	SRP54 (M320L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2751954	NM_003136.4(SRP54):c.569A>G (p.Asp190Gly)	SRP54 (D141G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2742632	NM_003136.4(SRP54):c.1328-17T>C	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2718656	NM_003136.4(SRP54):c.256-20_256-10del	SRP54	Deletion (intron variant)	not provided	GLikely benign
Select item 2712049	NM_003136.4(SRP54):c.324A>G (p.Gly108=)	SRP54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2705164	NM_003136.4(SRP54):c.880C>A (p.Leu294Ile)	SRP54 (L294I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2702632	NM_003136.4(SRP54):c.988C>T (p.Arg330Ter)	SRP54 (R330* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2692983	NM_003136.4(SRP54):c.786-14C>T	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2685482	GRCh37/hg19 14q13.1-13.3(chr14:34585231-37477843)x1	BAZ1A, BRMS1L +19 more	Copy number loss	not provided	GPathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2662152	NM_003136.4(SRP54):c.93G>C (p.Met31Ile)	SRP54 (M31I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2644163	NM_003136.4(SRP54):c.1179C>G (p.Ala393=)	SRP54	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2511704	NM_003136.4(SRP54):c.1508A>C (p.Asn503Thr)	SRP54 (N454T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2505814	NM_003136.4(SRP54):c.1488del (p.Gly497fs)	SRP54 (G440fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2502671	NM_003136.4(SRP54):c.5T>G (p.Val2Gly)	SRP54 (V2G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2495055	NM_003136.4(SRP54):c.977A>G (p.Gln326Arg)	SRP54 (Q326R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2424631	NC_000014.8:g.(?_35182071)_(35873850_?)del	BAZ1A, CFL2 +6 more	Deletion	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2331680	NM_003136.4(SRP54):c.821G>C (p.Gly274Ala)	SRP54 (G225A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295868	NM_003136.4(SRP54):c.1424-5T>G	SRP54	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 2250160	NM_003136.4(SRP54):c.916A>G (p.Lys306Glu)	SRP54 (K257E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2193841	NM_003136.4(SRP54):c.1105A>G (p.Met369Val)	SRP54 (M320V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2191588	NM_003136.4(SRP54):c.984G>A (p.Thr328=)	SRP54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2180948	NM_003136.4(SRP54):c.486-9G>A	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2172496	NM_003136.4(SRP54):c.270A>G (p.Gly90=)	SRP54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2172099	NM_003136.4(SRP54):c.1216G>A (p.Val406Ile)	SRP54 (V357I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2135623	NM_003136.4(SRP54):c.786-8T>G	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2130837	NM_003136.4(SRP54):c.255+7G>A	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2130465	NM_003136.4(SRP54):c.485+10T>C	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2126490	NM_003136.4(SRP54):c.973+20G>A	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2121437	NM_003136.4(SRP54):c.103G>A (p.Val35Ile)	SRP54 (V35I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2110639	NM_003136.4(SRP54):c.1423+18G>C	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2097604	NM_003136.4(SRP54):c.666T>C (p.Asp222=)	SRP54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2096215	NM_003136.4(SRP54):c.255+19T>C	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2075419	NM_003136.4(SRP54):c.1328-3C>T	SRP54	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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