"Invitae"[submitter] AND "DMBT1"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 719154	NM_001377530.1(DMBT1):c.1841G>A (p.Arg614Gln)	DMBT1 (R604Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 778417	NM_001377530.1(DMBT1):c.1903G>A (p.Asp635Asn)	DMBT1 (D625N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 786176	NM_001377530.1(DMBT1):c.2002G>A (p.Asp668Asn)	DMBT1 (D668N +1 more)	Single nucleotide variant (missense variant +1 more)	DMBT1-related condition +1 more	GBenign
Select item 773805	NM_001377530.1(DMBT1):c.2008C>T (p.Arg670Cys)	DMBT1 (R660C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1444036	NM_001377530.1(DMBT1):c.2087A>T (p.Asp696Val)	DMBT1 (D696V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 773239	NM_001377530.1(DMBT1):c.2268C>T (p.Thr756=)	DMBT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 768398	NM_001377530.1(DMBT1):c.2343G>A (p.Ser781=)	DMBT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1512379	NM_001377530.1(DMBT1):c.2413C>A (p.His805Asn)	DMBT1 (H805N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 779126	NM_001377530.1(DMBT1):c.2526T>C (p.Ser842=)	DMBT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 730866	NM_001377530.1(DMBT1):c.2922A>G (p.Thr974=)	DMBT1	Single nucleotide variant (synonymous variant)	DMBT1-related condition +1 more	GBenign/Likely benign
Select item 1475777	NM_001377530.1(DMBT1):c.3196G>A (p.Glu1066Lys)	DMBT1 (E1066K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 738647	NM_001377530.1(DMBT1):c.3297A>G (p.Pro1099=)	DMBT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738648	NM_001377530.1(DMBT1):c.3303T>C (p.Pro1101=)	DMBT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 789309	NM_001377530.1(DMBT1):c.4891+6C>T	DMBT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 779938	NM_001377530.1(DMBT1):c.4967A>G (p.Gln1656Arg)	DMBT1 (Q1517R +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 730867	NM_001377530.1(DMBT1):c.5276T>C (p.Leu1759Ser)	DMBT1 (L1002S +3 more)	Single nucleotide variant (missense variant)	DMBT1-related condition +1 more	GBenign
Select item 730868	NM_001377530.1(DMBT1):c.5281G>A (p.Val1761Ile)	DMBT1 (V1622I +3 more)	Single nucleotide variant (missense variant)	DMBT1-related condition +1 more	GBenign
Select item 726422	NM_001377530.1(DMBT1):c.6364C>T (p.Pro2122Ser)	DMBT1 (P1983S +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1382487	NM_001377530.1(DMBT1):c.6623G>A (p.Arg2208Gln)	DMBT1 (R1451Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2422456	NC_000010.10:g.(?_123239371)_(124813281_?)del	BTBD16, FAM24A +15 more	Deletion	FGFR2-related craniosynostosis	GUncertain significance

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Items: 20