SRP72[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1810087	NM_006947.4(SRP72):c.37G>A (p.Ala13Thr)	SRP72 (A13T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 349116	NM_006947.4(SRP72):c.37G>T (p.Ala13Ser)	SRP72 (A13S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1631553	NM_006947.4(SRP72):c.40C>T (p.Leu14=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 3018979	NM_006947.4(SRP72):c.41T>C (p.Leu14Pro)	SRP72 (L14P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1336792	NM_006947.4(SRP72):c.42G>C (p.Leu14=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2069673	NM_006947.4(SRP72):c.46A>C (p.Ser16Arg)	SRP72 (S16R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3240544	NM_006947.4(SRP72):c.50A>G (p.Glu17Gly)	SRP72 (E17G)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant aplasia and myelodysplasia	GUncertain significance
Select item 1606639	NM_006947.4(SRP72):c.51A>G (p.Glu17=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1946271	NM_006947.4(SRP72):c.54G>A (p.Val18=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1939458	NM_006947.4(SRP72):c.58C>A (p.Arg20=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 349117	NM_006947.4(SRP72):c.58C>T (p.Arg20Trp)	SRP72 (R20W)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant aplasia and myelodysplasia +2 more	GBenign/Likely benign
Select item 1895874	NM_006947.4(SRP72):c.66C>T (p.Gly22=)	SRP72	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2717867	NM_006947.4(SRP72):c.83C>A (p.Thr28Lys)	SRP72 (T28K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2662274	NM_006947.4(SRP72):c.85C>T (p.Arg29Cys)	SRP72 (R29C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3001044	NM_006947.4(SRP72):c.87C>T (p.Arg29=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2813364	NM_006947.4(SRP72):c.92T>C (p.Leu31Pro)	SRP72 (L31P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1491964	NM_006947.4(SRP72):c.104A>G (p.Asn35Ser)	SRP72 (N35S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1497666	NM_006947.4(SRP72):c.106A>T (p.Lys36Ter)	SRP72 (K36*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2810742	NM_006947.4(SRP72):c.108G>A (p.Lys36=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2820328	NM_006947.4(SRP72):c.109+2T>G	SRP72	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2078092	NM_006947.4(SRP72):c.109+2T>A	SRP72	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1563706	NM_006947.4(SRP72):c.109+19A>G	SRP72	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249910	NM_006947.4(SRP72):c.109+71G>A	SRP72	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189158	NM_006947.4(SRP72):c.109+125A>G	SRP72	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181159	NM_006947.4(SRP72):c.109+202C>G	SRP72	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280086	NM_006947.4(SRP72):c.109+232C>G	SRP72	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2872655	NM_006947.4(SRP72):c.110-19T>G	SRP72	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 904986	NM_006947.4(SRP72):c.110-5T>G	SRP72	Single nucleotide variant (intron variant)	Autosomal dominant aplasia and myelodysplasia +1 more	GConflicting classifications of pathogenicity
Select item 1950775	NM_006947.4(SRP72):c.110-2A>G	SRP72	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1638034	NM_006947.4(SRP72):c.114A>G (p.Leu38=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1417977	NM_006947.4(SRP72):c.121A>C (p.Asn41His)	SRP72 (N41H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2654771	NM_006947.4(SRP72):c.122A>G (p.Asn41Ser)	SRP72 (N41S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2734633	NM_006947.4(SRP72):c.132C>T (p.Asp44=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1004301	NM_006947.4(SRP72):c.133G>T (p.Val45Leu)	SRP72 (V45L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 349118	NM_006947.4(SRP72):c.133G>A (p.Val45Ile)	SRP72 (V45I)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2715733	NM_006947.4(SRP72):c.143T>G (p.Leu48Arg)	SRP72 (L48R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 349119	NM_006947.4(SRP72):c.144G>T (p.Leu48=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
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 1471142	NM_006947.4(SRP72):c.151A>G (p.Lys51Glu)	SRP72 (K51E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1627670	NM_006947.4(SRP72):c.165T>C (p.Leu55=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2759249	NM_006947.4(SRP72):c.168C>A (p.Ile56=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1901526	NM_006947.4(SRP72):c.176del (p.Gly59fs)	SRP72 (G59fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1915724	NM_006947.4(SRP72):c.178A>G (p.Ser60Gly)	SRP72 (S60G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1428940	NM_006947.4(SRP72):c.182T>G (p.Phe61Cys)	SRP72 (F61C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2663350	NM_006947.4(SRP72):c.190G>C (p.Ala64Pro)	SRP72 (A64P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 436861	NM_006947.4(SRP72):c.191C>T (p.Ala64Val)	SRP72 (A64V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2838031	NM_006947.4(SRP72):c.199G>A (p.Val67Ile)	SRP72 (V67I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2578103	NM_006947.4(SRP72):c.206A>G (p.Asn69Ser)	SRP72 (N69S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2823310	NM_006947.4(SRP72):c.219A>G (p.Lys73=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2974701	NM_006947.4(SRP72):c.222G>A (p.Val74=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2811645	NM_006947.4(SRP72):c.226G>A (p.Ala76Thr)	SRP72 (A76T)	Single nucleotide variant (missense variant +1 more)	not provided	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 2975353	NM_006947.4(SRP72):c.230+17G>A	SRP72	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274249	NM_006947.4(SRP72):c.230+122dup	SRP72	Duplication (intron variant)	not provided	GBenign
Select item 1683850	NM_006947.4(SRP72):c.230+128dup	SRP72	Duplication (intron variant)	not provided	GLikely benign
Select item 1248830	NM_006947.4(SRP72):c.230+215_230+216dup	SRP72	Duplication (intron variant)	not provided	GBenign
Select item 1191873	NM_006947.4(SRP72):c.230+216dup	SRP72	Duplication (intron variant)	not provided	GLikely benign
Select item 1221935	NM_006947.4(SRP72):c.230+215_230+216del	SRP72	Deletion (intron variant)	not provided	GBenign
Select item 1258855	NM_006947.4(SRP72):c.230+307_230+310del	SRP72	Deletion (intron variant)	not provided	GBenign
Select item 1257115	NM_006947.4(SRP72):c.231-273G>T	SRP72	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1601286	NM_006947.4(SRP72):c.231-11dup	SRP72	Duplication (intron variant)	not provided	GBenign
Select item 2957792	NM_006947.4(SRP72):c.231-19T>G	SRP72	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1947881	NM_006947.4(SRP72):c.231-11del	SRP72	Deletion (intron variant)	not provided	GBenign
Select item 1909875	NM_006947.4(SRP72):c.231-19T>C	SRP72	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1610757	NM_006947.4(SRP72):c.231-19T>A	SRP72	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2802122	NM_006947.4(SRP72):c.231-9C>T	SRP72	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1402854	NM_006947.4(SRP72):c.231T>C (p.Asn77=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2980790	NM_006947.4(SRP72):c.241dup (p.Ser81fs)	SRP72 (S81fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2745543	NM_006947.4(SRP72):c.242C>T (p.Ser81Phe)	SRP72 (S81F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1337557	NM_006947.4(SRP72):c.249A>G (p.Glu83=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 1373299	NM_006947.4(SRP72):c.250A>G (p.Lys84Glu)	SRP72 (K84E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2056601	NM_006947.4(SRP72):c.255A>G (p.Ala85=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1656467	NM_006947.4(SRP72):c.258T>C (p.Tyr86=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1590612	NM_006947.4(SRP72):c.261C>T (p.Cys87=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1087915	NM_006947.4(SRP72):c.267C>T (p.Tyr89=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2816609	NM_006947.4(SRP72):c.271del (p.Arg90_Leu91insTer)	SRP72	Deletion (nonsense +1 more)	not provided	GUncertain significance
Select item 1945425	NM_006947.4(SRP72):c.274A>G (p.Asn92Asp)	SRP72 (N92D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2899563	NM_006947.4(SRP72):c.278G>A (p.Arg93Lys)	SRP72 (R93K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3003881	NM_006947.4(SRP72):c.288T>A (p.Asn96Lys)	SRP72 (N96K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1313930	NM_006947.4(SRP72):c.289G>A (p.Ala97Thr)	SRP72 (A97T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 349120	NM_006947.4(SRP72):c.294G>A (p.Leu98=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant aplasia and myelodysplasia +1 more	GBenign
Select item 1542856	NM_006947.4(SRP72):c.300A>C (p.Thr100=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2724115	NM_006947.4(SRP72):c.303A>G (p.Ile101Met)	SRP72 (I101M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2849106	NM_006947.4(SRP72):c.305A>C (p.Glu102Ala)	SRP72 (E102A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3341439	NM_006947.4(SRP72):c.308G>A (p.Ser103Asn)	SRP72 (S103N)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant aplasia and myelodysplasia	GUncertain significance
Select item 1935695	NM_006947.4(SRP72):c.314A>G (p.Asn105Ser)	SRP72 (N105S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1520461	NM_006947.4(SRP72):c.325_328del (p.Asp109fs)	SRP72 (D109fs)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2972402	NM_006947.4(SRP72):c.321G>A (p.Gln107=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2087591	NM_006947.4(SRP72):c.332T>C (p.Leu111Pro)	SRP72 (L111P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1717501	NM_006947.4(SRP72):c.340C>T (p.Leu114Phe)	SRP72 (L114F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3363752	NM_006947.4(SRP72):c.347G>A (p.Gly116Glu)	SRP72 (G116E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1720378	NM_006947.4(SRP72):c.352G>A (p.Val118Met)	SRP72 (V118M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2825142	NM_006947.4(SRP72):c.354+6T>G	SRP72	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2840808	NM_006947.4(SRP72):c.354+12T>C	SRP72	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2025836	NM_006947.4(SRP72):c.354+17A>G	SRP72	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295121	NM_006947.4(SRP72):c.354+179A>G	SRP72	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264268	NM_006947.4(SRP72):c.355-279dup	SRP72	Duplication (intron variant)	not provided	GBenign
Select item 1201354	NM_006947.4(SRP72):c.355-139T>C	SRP72	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234539	NM_006947.4(SRP72):c.355-111T>C	SRP72	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2881406	NM_006947.4(SRP72):c.355-13A>G	SRP72	Single nucleotide variant (intron variant)	not provided	GLikely benign

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