ClinVar for Gene (Select 54344) - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3273607	NM_153741.2(DPM3):c.8A>T (p.Lys3Ile)	DPM3 (K3I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247791	NC_000001.10:g.(?_155112418)_(155112826_?)del	DPM3	Deletion	DPM3-congenital disorder of glycosylation	GPathogenic
Select item 3085507	NM_153741.2(DPM3):c.76T>G (p.Leu26Val)	DPM3 (L56V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085506	NM_153741.2(DPM3):c.259C>T (p.Arg87Cys)	DPM3 (R117C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085505	NM_153741.2(DPM3):c.187A>T (p.Thr63Ser)	DPM3 (T63S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2829359	NM_153741.2(DPM3):c.42G>A (p.Leu14=)	DPM3	Single nucleotide variant (synonymous variant)	DPM3-congenital disorder of glycosylation	GLikely benign
Select item 2788399	NM_153741.2(DPM3):c.21G>C (p.Trp7Cys)	DPM3 (W37C +1 more)	Single nucleotide variant (missense variant)	DPM3-congenital disorder of glycosylation	GUncertain significance
Select item 2762867	NM_153741.2(DPM3):c.205del (p.Asp69fs)	DPM3 (D99fs +1 more)	Deletion (frameshift variant)	DPM3-congenital disorder of glycosylation	GPathogenic
Select item 2738555	NM_153741.2(DPM3):c.39C>T (p.Ile13=)	DPM3	Single nucleotide variant (synonymous variant)	DPM3-congenital disorder of glycosylation	GLikely benign
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2441026	NM_153741.2(DPM3):c.18G>C (p.Gln6His)	DPM3 (Q36H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2413473	NM_153741.2(DPM3):c.59C>T (p.Ala20Val)	DPM3 (A20V +1 more)	Single nucleotide variant (missense variant)	DPM3-congenital disorder of glycosylation	GUncertain significance
Select item 2290625	NM_153741.2(DPM3):c.131A>G (p.Tyr44Cys)	DPM3 (Y44C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284460	NM_153741.2(DPM3):c.34G>T (p.Ala12Ser)	DPM3 (A12S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238032	NM_153741.2(DPM3):c.257C>T (p.Ala86Val)	DPM3 (A116V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2143389	NM_153741.2(DPM3):c.104A>G (p.Gln35Arg)	DPM3 (Q35R +1 more)	Single nucleotide variant (missense variant)	DPM3-congenital disorder of glycosylation	GUncertain significance
Select item 2104655	NM_153741.2(DPM3):c.215G>A (p.Arg72His)	DPM3 (R102H +1 more)	Single nucleotide variant (missense variant)	DPM3-congenital disorder of glycosylation	GUncertain significance
Select item 2085263	NM_153741.2(DPM3):c.81C>T (p.Gly27=)	DPM3	Single nucleotide variant (synonymous variant)	DPM3-congenital disorder of glycosylation	GLikely benign
Select item 2061375	NM_153741.2(DPM3):c.193C>T (p.His65Tyr)	DPM3 (H65Y +1 more)	Single nucleotide variant (missense variant)	DPM3-congenital disorder of glycosylation	GUncertain significance
Select item 2048065	NM_153741.2(DPM3):c.11T>C (p.Leu4Ser)	DPM3 (L34S +1 more)	Single nucleotide variant (missense variant)	DPM3-congenital disorder of glycosylation	GUncertain significance
Select item 2043355	NM_153741.2(DPM3):c.5del (p.Thr2fs)	DPM3 (T32fs +1 more)	Deletion (frameshift variant)	DPM3-congenital disorder of glycosylation	GPathogenic
Select item 1989778	NM_153741.2(DPM3):c.27G>A (p.Trp9Ter)	DPM3 (W9* +1 more)	Single nucleotide variant (nonsense)	DPM3-congenital disorder of glycosylation	GPathogenic
Select item 1983276	NM_153741.2(DPM3):c.6G>A (p.Thr2=)	DPM3	Single nucleotide variant (synonymous variant)	DPM3-congenital disorder of glycosylation	GLikely benign
Select item 1981094	NM_153741.2(DPM3):c.179del (p.Arg60fs)	DPM3 (R90fs +1 more)	Deletion (frameshift variant)	DPM3-congenital disorder of glycosylation	GPathogenic
Select item 1608541	NM_153741.2(DPM3):c.111C>T (p.Val37=)	DPM3	Single nucleotide variant (synonymous variant)	DPM3-congenital disorder of glycosylation	GLikely benign
Select item 1493482	NM_153741.2(DPM3):c.29G>A (p.Gly10Glu)	DPM3 (G10E +1 more)	Single nucleotide variant (missense variant)	DPM3-congenital disorder of glycosylation	GUncertain significance
Select item 1491262	NM_153741.2(DPM3):c.44G>T (p.Gly15Val)	DPM3 (G15V +1 more)	Single nucleotide variant (missense variant)	DPM3-congenital disorder of glycosylation	GUncertain significance
Select item 1450274	NC_000001.10:g.(?_154141761)_(156851434_?)dup	MUC1, PMVK +90 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1446016	NM_153741.2(DPM3):c.244C>T (p.Arg82Ter)	DPM3 (R82* +1 more)	Single nucleotide variant (nonsense)	DPM3-congenital disorder of glycosylation	GPathogenic
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	ATP8B2, KCNN3 +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1412853	NC_000001.10:g.(?_155112438)_(155112716_?)dup	DPM3	Duplication	DPM3-congenital disorder of glycosylation	GUncertain significance
Select item 1410172	NM_153741.2(DPM3):c.19T>C (p.Trp7Arg)	DPM3 (W37R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1407462	NM_153741.2(DPM3):c.184G>C (p.Ala62Pro)	DPM3 (A92P +1 more)	Single nucleotide variant (missense variant)	DPM3-congenital disorder of glycosylation	GUncertain significance
Select item 1383874	NM_153741.2(DPM3):c.248C>T (p.Ala83Val)	DPM3 (A113V +1 more)	Single nucleotide variant (missense variant)	DPM3-congenital disorder of glycosylation	GUncertain significance
Select item 1221369	NC_000001.11:g.155139661dup	DPM3	Duplication	not provided	GBenign
Select item 1211162	NC_000001.11:g.155139862C>T	DPM3	Single nucleotide variant	not provided	GLikely benign
Select item 1180421	NC_000001.11:g.155139661del	DPM3	Deletion	not provided	GLikely benign
Select item 1167448	NM_153741.2(DPM3):c.112C>T (p.Leu38=)	DPM3	Single nucleotide variant (synonymous variant)	DPM3-congenital disorder of glycosylation	GBenign
Select item 1074098	NM_153741.2(DPM3):c.229C>T (p.Gln77Ter)	DPM3 (Q107* +1 more)	Single nucleotide variant (nonsense)	DPM3-congenital disorder of glycosylation	GPathogenic
Select item 1060967	NM_153741.2(DPM3):c.129_130del (p.Tyr44fs)	DPM3 (Y44fs +1 more)	Deletion (frameshift variant)	DPM3-congenital disorder of glycosylation	GPathogenic
Select item 1016244	NM_153741.2(DPM3):c.196G>T (p.Asp66Tyr)	DPM3 (D66Y +1 more)	Single nucleotide variant (missense variant)	DPM3-congenital disorder of glycosylation	GUncertain significance
Select item 1004176	NM_153741.2(DPM3):c.257C>A (p.Ala86Asp)	DPM3 (A116D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ATP8B2, AVPR1B +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 956521	NM_153741.2(DPM3):c.208G>A (p.Ala70Thr)	DPM3 (A100T +1 more)	Single nucleotide variant (missense variant)	DPM3-congenital disorder of glycosylation	GUncertain significance
Select item 873568	NM_153741.2(DPM3):c.178C>T (p.Arg60Cys)	DPM3 (R60C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 863136	NM_153741.2(DPM3):c.127G>A (p.Ala43Thr)	DPM3 (A43T +1 more)	Single nucleotide variant (missense variant)	DPM3-congenital disorder of glycosylation	GUncertain significance
Select item 853040	NM_153741.2(DPM3):c.266G>A (p.Gly89Glu)	DPM3 (G119E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 835255	NM_153741.2(DPM3):c.28G>C (p.Gly10Arg)	DPM3 (G10R +1 more)	Single nucleotide variant (missense variant)	DPM3-congenital disorder of glycosylation	GUncertain significance
Select item 832159	NC_000001.11:g.(?_155139952)_(155140340_?)dup	DPM3	Duplication	DPM3-congenital disorder of glycosylation	GUncertain significance
Select item 814131	GRCh37/hg19 1q21.3-22(chr1:154898854-155242457)x3	EFNA4, ENTREP3 +23 more	Copy number gain	not provided	GUncertain significance
Select item 758385	NM_153741.2(DPM3):c.220C>T (p.Leu74=)	DPM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 694292	NM_153741.2(DPM3):c.124C>G (p.Pro42Ala)	DPM3 (P72A +1 more)	Single nucleotide variant (missense variant)	DPM3-congenital disorder of glycosylation +1 more	GPathogenic/Likely pathogenic
Select item 694278	NM_153741.2(DPM3):c.254T>A (p.Leu85Ter)	DPM3 (L85* +1 more)	Single nucleotide variant (nonsense)	DPM3-congenital disorder of glycosylation +1 more	GPathogenic
Select item 661452	NM_153741.2(DPM3):c.95T>C (p.Leu32Ser)	DPM3 (L32S +1 more)	Single nucleotide variant (missense variant)	DPM3-congenital disorder of glycosylation	GUncertain significance
Select item 658481	NM_153741.2(DPM3):c.21G>A (p.Trp7Ter)	DPM3 (W7* +1 more)	Single nucleotide variant (nonsense)	DPM3-congenital disorder of glycosylation	GPathogenic
Select item 657783	NM_153741.2(DPM3):c.176A>C (p.Tyr59Ser)	DPM3 (Y59S +1 more)	Single nucleotide variant (missense variant)	DPM3-congenital disorder of glycosylation	GUncertain significance
Select item 585021	NM_153741.2(DPM3):c.41T>C (p.Leu14Pro)	DPM3 (L44P +1 more)	Single nucleotide variant (missense variant)	DPM3-congenital disorder of glycosylation	GPathogenic
Select item 582811	NM_153741.2(DPM3):c.218A>C (p.Glu73Ala)	DPM3 (E73A +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 538433	NM_153741.2(DPM3):c.48C>T (p.Ser16=)	DPM3	Single nucleotide variant (synonymous variant)	DPM3-congenital disorder of glycosylation	GLikely benign
Select item 538432	NM_153741.2(DPM3):c.55G>T (p.Val19Leu)	DPM3 (V19L +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 538431	NM_153741.2(DPM3):c.185C>T (p.Ala62Val)	DPM3 (A62V +1 more)	Single nucleotide variant (missense variant)	DPM3-congenital disorder of glycosylation	GUncertain significance
Select item 514076	NM_153741.2(DPM3):c.-6+19C>T	DPM3, LOC129931553	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 512572	NM_153741.2(DPM3):c.-11G>C	DPM3, LOC129931553	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 511816	NM_153741.2(DPM3):c.-14G>C	DPM3, LOC129931553	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 495229	Single allele	BGLAP, C1orf43 +90 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 493594	GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3	ADAR, PYGO2 +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 471063	NM_153741.2(DPM3):c.179G>T (p.Arg60Leu)	DPM3 (R60L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 387489	NM_153741.2(DPM3):c.60C>T (p.Ala20=)	DPM3	Single nucleotide variant (synonymous variant)	DPM3-congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 384058	NM_153741.2(DPM3):c.-5-80C>G	DPM3	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 383631	NM_153741.2(DPM3):c.-6+6T>C	DPM3, LOC129931553	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 382791	NM_153741.2(DPM3):c.*2A>G	DPM3	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 374109	NM_153741.2(DPM3):c.137T>A (p.Leu46Gln)	DPM3 (L46Q +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GLikely pathogenic
Select item 292789	NM_153741.2(DPM3):c.249C>A (p.Ala83=)	DPM3	Single nucleotide variant (synonymous variant)	DPM3-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151444	GRCh38/hg38 1q21.3-22(chr1:155006546-155464263)x3	ADAM15, ADAM15-EFNA4 +67 more	Copy number gain	See cases	GUncertain significance
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 60040	GRCh38/hg38 1q21.3-22(chr1:154575689-155292901)x1	LOC129931527, LOC129931528 +91 more	Copy number loss	See cases	GPathogenic
Select item 31765	NM_153741.1(DPM3):c.-35-108C>A	DPM3	Single nucleotide variant	not provided	GBenign
Select item 31764	NM_153741.1(DPM3):c.-35-78T>G	DPM3, LOC129931553	Single nucleotide variant	not provided	GLikely benign
Select item 4702	NM_153741.2(DPM3):c.254T>C (p.Leu85Ser)	DPM3 (L85S +1 more)	Single nucleotide variant (missense variant)	DPM3-congenital disorder of glycosylation	GPathogenic

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Links from Gene

Items: 85