"PreventionGenetics, part of Exact Sciences"[submitter] AND "SRP72"[ge - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1803128	NM_006947.4(SRP72):c.-10C>T	LOC129992625, SRP72	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal dominant aplasia and myelodysplasia +1 more	GConflicting classifications of pathogenicity
Select item 3050359	NM_006947.4(SRP72):c.9C>T (p.Ser3=)	LOC129992625, SRP72	Single nucleotide variant (synonymous variant +1 more)	SRP72-related disorder	GLikely benign
Select item 1723735	NM_006947.4(SRP72):c.25dup (p.Val9fs)	LOC129992625, SRP72 (V9fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GUncertain significance
Select item 2068186	NM_006947.4(SRP72):c.20G>T (p.Gly7Val)	LOC129992625, SRP72 (G7V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2879586	NM_006947.4(SRP72):c.25G>A (p.Val9Met)	LOC129992625, SRP72 (V9M)	Single nucleotide variant (missense variant +1 more)	SRP72-related disorder +1 more	GUncertain significance
Select item 2790251	NM_006947.4(SRP72):c.33A>G (p.Val11=)	LOC129992625, SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 349117	NM_006947.4(SRP72):c.58C>T (p.Arg20Trp)	SRP72 (R20W)	Single nucleotide variant (missense variant +1 more)	SRP72-related disorder +3 more	GBenign/Likely benign
Select item 349118	NM_006947.4(SRP72):c.133G>A (p.Val45Ile)	SRP72 (V45I)	Single nucleotide variant (missense variant +1 more)	SRP72-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1475386	NM_006947.4(SRP72):c.149G>A (p.Cys50Tyr)	SRP72 (C50Y)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 3031599	NM_006947.4(SRP72):c.230+10T>G	SRP72	Single nucleotide variant (intron variant)	SRP72-related disorder	GLikely benign
Select item 2056601	NM_006947.4(SRP72):c.255A>G (p.Ala85=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1650009	NM_006947.4(SRP72):c.498+8T>C	SRP72	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2633905	NM_006947.4(SRP72):c.521G>A (p.Gly174Asp)	SRP72 (G174D)	Single nucleotide variant (missense variant +1 more)	SRP72-related disorder	GUncertain significance
Select item 3029065	NM_006947.4(SRP72):c.541A>G (p.Asn181Asp)	SRP72 (N181D)	Single nucleotide variant (missense variant +1 more)	SRP72-related disorder	GUncertain significance
Select item 3051459	NM_006947.4(SRP72):c.610+9T>A	SRP72	Single nucleotide variant (intron variant)	SRP72-related disorder	GLikely benign
Select item 3029824	NM_006947.4(SRP72):c.611-4G>A	SRP72	Single nucleotide variant (intron variant)	SRP72-related disorder	GLikely benign
Select item 349122	NM_006947.4(SRP72):c.686A>G (p.His229Arg)	SRP72 (H229R)	Single nucleotide variant (missense variant +2 more)	SRP72-related disorder +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 disorder +3 more	GBenign
Select item 1615245	NM_006947.4(SRP72):c.873G>A (p.Ala291=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	SRP72-related disorder +1 more	GLikely benign
Select item 2970638	NM_006947.4(SRP72):c.912A>G (p.Gln304=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2133051	NM_006947.4(SRP72):c.995C>G (p.Ser332Cys)	SRP72 (S271C +1 more)	Single nucleotide variant (missense variant +1 more)	SRP72-related disorder +1 more	GUncertain significance
Select item 1337444	NM_006947.4(SRP72):c.1005C>T (p.Pro335=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 1053866	NM_006947.4(SRP72):c.1135A>G (p.Met379Val)	SRP72 (M318V +1 more)	Single nucleotide variant (missense variant +1 more)	SRP72-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2956055	NM_006947.4(SRP72):c.1159+6A>G	SRP72	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2633955	NM_006947.4(SRP72):c.1245G>A (p.Met415Ile)	SRP72 (M354I +1 more)	Single nucleotide variant (missense variant +1 more)	SRP72-related disorder	GUncertain significance
Select item 3048608	NM_006947.4(SRP72):c.1272T>C (p.Ser424=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	SRP72-related disorder	GLikely benign
Select item 1337445	NM_006947.4(SRP72):c.1294G>A (p.Ala432Thr)	SRP72 (A371T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2629461	NM_006947.4(SRP72):c.1385G>A (p.Arg462Gln)	SRP72 (R401Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1368145	NM_006947.4(SRP72):c.1428A>G (p.Gln476=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2442672	NM_006947.4(SRP72):c.1452G>A (p.Leu484=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	SRP72-related disorder +1 more	GUncertain significance
Select item 3032419	NM_006947.4(SRP72):c.1515C>T (p.His505=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	SRP72-related disorder	GLikely benign
Select item 1621964	NM_006947.4(SRP72):c.1521A>G (p.Pro507=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	SRP72-related disorder +1 more	GLikely benign
Select item 3050893	NM_006947.4(SRP72):c.1620T>C (p.Asp540=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	SRP72-related disorder	GLikely benign
Select item 1460872	NM_006947.4(SRP72):c.1679-9G>A	SRP72	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 349132	NM_006947.4(SRP72):c.1698T>C (p.Tyr566=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely 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

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Items: 36