SRP72[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 57074	GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	AASDH, ADGRL3 +244 more	Copy number gain	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 58028	GRCh38/hg38 4q12-13.2(chr4:51831622-66991489)x3	AASDH, ADGRL3 +177 more	Copy number gain	See cases	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC123477761 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 58030	GRCh38/hg38 4q12-13.1(chr4:51899860-59984479)x3	LOC129992618, LOC129992619 +143 more	Copy number gain	See cases	GPathogenic
Select item 59423	GRCh38/hg38 4q12-13.1(chr4:52639018-59984479)x1	AASDH, ARL9 +136 more	Copy number loss	See cases	GPathogenic
Select item 59424	GRCh38/hg38 4q12-13.1(chr4:54198601-62270115)x1	AASDH, ADGRL3 +100 more	Copy number loss	See cases	GPathogenic
Select item 148576	GRCh38/hg38 4q12(chr4:56248102-57218522)x4	AASDH, ARL9 +39 more	Copy number gain	See cases	GUncertain significance
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	GUncertain significance
Select item 3363870	NM_006947.4(SRP72):c.2T>C (p.Met1Thr)	LOC129992625, SRP72 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 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 2001809	NM_006947.4(SRP72):c.17G>C (p.Ser6Thr)	LOC129992625, SRP72 (S6T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1938027	NM_006947.4(SRP72):c.18C>T (p.Ser6=)	LOC129992625, SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1723735	NM_006947.4(SRP72):c.25dup (p.Val9fs)	LOC129992625, SRP72 (V9fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2189018	NM_006947.4(SRP72):c.19G>A (p.Gly7Arg)	LOC129992625, SRP72 (G7R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 436864	NM_006947.4(SRP72):c.19G>C (p.Gly7Arg)	LOC129992625, SRP72 (G7R)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 349112	NM_006947.4(SRP72):c.19G>T (p.Gly7Trp)	LOC129992625, SRP72 (G7W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 2068186	NM_006947.4(SRP72):c.20G>T (p.Gly7Val)	LOC129992625, SRP72 (G7V)	Single nucleotide variant (missense variant +1 more)	SRP72-related disorder +1 more	GUncertain significance
Select item 377137	NM_006947.4(SRP72):c.20G>C (p.Gly7Ala)	LOC129992625, SRP72 (G7A)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant aplasia and myelodysplasia +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 1337488	NM_006947.4(SRP72):c.21G>A (p.Gly7=)	LOC129992625, SRP72	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1336014	NM_006947.4(SRP72):c.21G>C (p.Gly7=)	LOC129992625, SRP72	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
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 2654770	NM_006947.4(SRP72):c.22G>A (p.Gly8Arg)	LOC129992625, SRP72 (G8R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1314214	NM_006947.4(SRP72):c.22G>C (p.Gly8Arg)	LOC129992625, SRP72 (G8R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1020162	NM_006947.4(SRP72):c.23G>C (p.Gly8Ala)	LOC129992625, SRP72 (G8A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 349115	NM_006947.4(SRP72):c.23G>A (p.Gly8Glu)	LOC129992625, SRP72 (G8E)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2891770	NM_006947.4(SRP72):c.24G>T (p.Gly8=)	LOC129992625, SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2502092	NM_006947.4(SRP72):c.24_25delinsT (p.Val9fs)	LOC129992625, SRP72 (V9fs)	Indel (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1589529	NM_006947.4(SRP72):c.24G>A (p.Gly8=)	LOC129992625, SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2980555	NM_006947.4(SRP72):c.25G>T (p.Val9Leu)	LOC129992625, SRP72 (V9L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2879586	NM_006947.4(SRP72):c.25G>A (p.Val9Met)	LOC129992625, SRP72 (V9M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2061158	NM_006947.4(SRP72):c.25G>C (p.Val9Leu)	LOC129992625, SRP72 (V9L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1667839	NM_006947.4(SRP72):c.30A>T (p.Ser10=)	LOC129992625, SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1588456	NM_006947.4(SRP72):c.30A>G (p.Ser10=)	LOC129992625, SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1464601	NM_006947.4(SRP72):c.31G>A (p.Val11Ile)	LOC129992625, SRP72 (V11I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2799531	NM_006947.4(SRP72):c.33A>T (p.Val11=)	LOC129992625, SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2790251	NM_006947.4(SRP72):c.33A>G (p.Val11=)	SRP72, LOC129992625	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1354699	NM_006947.4(SRP72):c.35C>T (p.Pro12Leu)	LOC129992625, SRP72 (P12L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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

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