LOC129992625[gene] - ClinVar

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Items: 42

	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

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Items: 42