"Illumina Laboratory Services, Illumina"[submitter] AND "SRP72"[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 904205	NM_006947.4(SRP72):c.7A>G (p.Ser3Gly)	LOC129992625, SRP72 (S3G)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant aplasia and myelodysplasia	GUncertain significance
Select item 349112	NM_006947.4(SRP72):c.19G>T (p.Gly7Trp)	SRP72, LOC129992625 (G7W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 377137	NM_006947.4(SRP72):c.20G>C (p.Gly7Ala)	LOC129992625, SRP72 (G7A)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 349113	NM_006947.4(SRP72):c.20G>A (p.Gly7Glu)	LOC129992625, SRP72 (G7E)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant aplasia and myelodysplasia +2 more	GConflicting classifications of pathogenicity
Select item 349114	NM_006947.4(SRP72):c.21G>T (p.Gly7=)	LOC129992625, SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 349115	NM_006947.4(SRP72):c.23G>A (p.Gly8Glu)	LOC129992625, SRP72 (G8E)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant aplasia and myelodysplasia +2 more	GConflicting classifications of pathogenicity
Select item 904985	NM_006947.4(SRP72):c.29C>T (p.Ser10Leu)	LOC129992625, SRP72 (S10L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 349116	NM_006947.4(SRP72):c.37G>T (p.Ala13Ser)	SRP72 (A13S)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant aplasia and myelodysplasia +2 more	GConflicting classifications of pathogenicity
Select item 349117	NM_006947.4(SRP72):c.58C>T (p.Arg20Trp)	SRP72 (R20W)	Single nucleotide variant (missense variant +1 more)	SRP72-related condition +3 more	GBenign/Likely benign
Select item 904986	NM_006947.4(SRP72):c.110-5T>G	SRP72	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 349118	NM_006947.4(SRP72):c.133G>A (p.Val45Ile)	SRP72 (V45I)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant aplasia and myelodysplasia +3 more	GConflicting classifications of pathogenicity
Select item 349119	NM_006947.4(SRP72):c.144G>T (p.Leu48=)	SRP72	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 349120	NM_006947.4(SRP72):c.294G>A (p.Leu98=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 349121	NM_006947.4(SRP72):c.406G>A (p.Val136Ile)	SRP72 (V136I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 906572	NM_006947.4(SRP72):c.574C>G (p.Leu192Val)	SRP72 (L192V)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant aplasia and myelodysplasia	GUncertain significance
Select item 349122	NM_006947.4(SRP72):c.686A>G (p.His229Arg)	SRP72 (H229R)	Single nucleotide variant (missense variant +2 more)	SRP72-related condition +2 more	GBenign
Select item 349123	NM_006947.4(SRP72):c.789A>G (p.Leu263=)	SRP72	Single nucleotide variant (synonymous variant +2 more)	SRP72-related condition +3 more	GBenign
Select item 349124	NM_006947.4(SRP72):c.973A>G (p.Lys325Glu)	SRP72 (K325E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 906573	NM_006947.4(SRP72):c.979T>C (p.Ser327Pro)	SRP72 (S327P +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant aplasia and myelodysplasia	GUncertain significance
Select item 349126	NM_006947.4(SRP72):c.1225-6G>A	SRP72	Single nucleotide variant (intron variant)	Autosomal dominant aplasia and myelodysplasia	GLikely benign
Select item 349127	NM_006947.4(SRP72):c.1380T>C (p.Tyr460=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 349128	NM_006947.4(SRP72):c.1410A>G (p.Leu470=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 212305	NM_006947.4(SRP72):c.1589T>C (p.Ile530Thr)	SRP72 (I530T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 907590	NM_006947.4(SRP72):c.1636C>A (p.Gln546Lys)	SRP72 (Q485K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 349129	NM_006947.4(SRP72):c.1640+6dup	SRP72	Duplication (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 349130	NM_006947.4(SRP72):c.1650T>C (p.Asp550=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 349131	NM_006947.4(SRP72):c.1671A>G (p.Lys557=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 349132	NM_006947.4(SRP72):c.1698T>C (p.Tyr566=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 349133	NM_006947.4(SRP72):c.1704A>G (p.Pro568=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 349134	NM_006947.4(SRP72):c.1803G>A (p.Gly601=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 904262	NM_006947.4(SRP72):c.1938C>G (p.His646Gln)	SRP72 (H646Q +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant aplasia and myelodysplasia	GUncertain significance
Select item 349135	NM_006947.4(SRP72):c.2004A>G (p.Lys668=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 349136	NM_006947.4(SRP72):c.*24G>A	SRP72	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant aplasia and myelodysplasia	GBenign
Select item 349137	NM_006947.4(SRP72):c.*125GT[1]	SRP72	Microsatellite (3 prime UTR variant +1 more)	Autosomal dominant aplasia and myelodysplasia	GUncertain significance
Select item 349138	NM_006947.4(SRP72):c.*139G>A	SRP72	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant aplasia and myelodysplasia +1 more	GBenign
Select item 904263	NM_006947.4(SRP72):c.*142A>G	SRP72	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant aplasia and myelodysplasia	GUncertain significance
Select item 349139	NM_006947.4(SRP72):c.*173T>C	SRP72	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant aplasia and myelodysplasia +1 more	GBenign
Select item 349140	NM_006947.4(SRP72):c.*194G>A	SRP72	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant aplasia and myelodysplasia	GUncertain significance
Select item 349141	NM_006947.4(SRP72):c.*221A>G	SRP72	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant aplasia and myelodysplasia	GUncertain significance
Select item 349142	NM_006947.4(SRP72):c.*227G>A	SRP72	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant aplasia and myelodysplasia	GUncertain significance
Select item 349143	NM_006947.4(SRP72):c.*321A>G	SRP72	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant aplasia and myelodysplasia	GUncertain significance
Select item 349144	NM_006947.4(SRP72):c.*386G>A	SRP72	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant aplasia and myelodysplasia	GBenign
Select item 349145	NM_006947.4(SRP72):c.*407T>C	SRP72	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant aplasia and myelodysplasia	GUncertain significance
Select item 349146	NM_006947.4(SRP72):c.*442A>G	SRP72	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant aplasia and myelodysplasia	GBenign
Select item 905054	NM_006947.4(SRP72):c.*473G>A	SRP72	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant aplasia and myelodysplasia	GUncertain significance
Select item 905055	NM_006947.4(SRP72):c.*505C>T	SRP72	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant aplasia and myelodysplasia	GUncertain significance
Select item 349147	NM_006947.4(SRP72):c.*558T>C	SRP72	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant aplasia and myelodysplasia	GBenign
Select item 349148	NM_006947.4(SRP72):c.*606AT[10]	SRP72	Microsatellite (3 prime UTR variant +1 more)	Autosomal dominant aplasia and myelodysplasia	GUncertain significance
Select item 349149	NM_006947.4(SRP72):c.*606A>T	SRP72	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant aplasia and myelodysplasia	GUncertain significance
Select item 349150	NM_006947.4(SRP72):c.622_649del	SRP72	Deletion (3 prime UTR variant +1 more)	Autosomal dominant aplasia and myelodysplasia	GBenign
Select item 906638	NM_006947.4(SRP72):c.*622G>A	SRP72	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant aplasia and myelodysplasia	GUncertain significance
Select item 906639	NM_006947.4(SRP72):c.*624A>G	SRP72	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant aplasia and myelodysplasia	GUncertain significance
Select item 906640	NM_006947.4(SRP72):c.*633T>C	SRP72	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant aplasia and myelodysplasia	GUncertain significance
Select item 349153	NM_006947.4(SRP72):c.*635C>T	SRP72	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant aplasia and myelodysplasia	GUncertain significance
Select item 349152	NM_006947.4(SRP72):c.*637TA[11]	SRP72	Microsatellite (3 prime UTR variant +1 more)	Autosomal dominant aplasia and myelodysplasia +1 more	GConflicting classifications of pathogenicity
Select item 349151	NM_006947.4(SRP72):c.*637TA[9]	SRP72	Microsatellite (3 prime UTR variant +1 more)	Autosomal dominant aplasia and myelodysplasia	GUncertain significance
Select item 349154	NM_006947.4(SRP72):c.*637TA[7]	SRP72	Microsatellite (3 prime UTR variant +1 more)	Autosomal dominant aplasia and myelodysplasia	GUncertain significance
Select item 349155	NM_006947.4(SRP72):c.*732A>G	SRP72	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant aplasia and myelodysplasia	GBenign
Select item 349156	NM_006947.4(SRP72):c.*780C>T	SRP72	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant aplasia and myelodysplasia	GBenign
Select item 349157	NM_006947.4(SRP72):c.*839T>C	SRP72	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant aplasia and myelodysplasia	GUncertain significance
Select item 349158	NM_006947.4(SRP72):c.*972G>A	SRP72	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant aplasia and myelodysplasia	GBenign
Select item 349159	NM_006947.4(SRP72):c.1227_1232del	SRP72	Deletion (3 prime UTR variant +1 more)	Autosomal dominant aplasia and myelodysplasia	GUncertain significance
Select item 907664	NM_006947.4(SRP72):c.*1241C>T	SRP72	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant aplasia and myelodysplasia	GUncertain significance
Select item 349160	NM_006947.4(SRP72):c.*1313C>G	SRP72	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant aplasia and myelodysplasia	GBenign
Select item 907665	NM_006947.4(SRP72):c.*1385A>G	SRP72	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant aplasia and myelodysplasia	GUncertain significance
Select item 907666	NM_006947.4(SRP72):c.*1478C>A	SRP72	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant aplasia and myelodysplasia	GUncertain significance
Select item 907667	NM_006947.4(SRP72):c.*1483A>G	SRP72	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant aplasia and myelodysplasia	GUncertain significance
Select item 349161	NM_006947.4(SRP72):c.*1603A>G	SRP72	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant aplasia and myelodysplasia	GBenign
Select item 349162	NM_006947.4(SRP72):c.*1678C>T	SRP72	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant aplasia and myelodysplasia	GUncertain significance
Select item 349163	NM_006947.4(SRP72):c.*1764A>G	SRP72	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant aplasia and myelodysplasia	GUncertain significance
Select item 349164	NM_006947.4(SRP72):c.*1769T>G	SRP72	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant aplasia and myelodysplasia	GUncertain significance

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Items: 71