Related gene-specific medical variations for Gene (Select 1755) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3083067	NM_001377530.1(DMBT1):c.7237G>A (p.Val2413Ile)	DMBT1, LOC126861068 (V2413I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083066	NM_001377530.1(DMBT1):c.7202G>A (p.Arg2401His)	DMBT1, LOC126861068 (R2271H +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3083065	NM_001377530.1(DMBT1):c.7001T>C (p.Ile2334Thr)	DMBT1, LOC126861068 (I1577T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044019	NM_001377530.1(DMBT1):c.7236C>T (p.Tyr2412=)	DMBT1, LOC126861068	Single nucleotide variant (synonymous variant)	DMBT1-related disorder	GLikely benign
Select item 3039562	NM_001377530.1(DMBT1):c.7201C>T (p.Arg2401Cys)	DMBT1, LOC126861068 (R1644C +4 more)	Single nucleotide variant (missense variant)	DMBT1-related disorder	GLikely benign
Select item 3035013	NM_001377530.1(DMBT1):c.7025G>A (p.Arg2342His)	DMBT1, LOC126861068 (R1585H +4 more)	Single nucleotide variant (missense variant)	DMBT1-related disorder	GBenign
Select item 2640942	NM_001377530.1(DMBT1):c.7212C>T (p.Tyr2404=)	DMBT1, LOC126861068	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640941	NM_001377530.1(DMBT1):c.7071C>G (p.Thr2357=)	DMBT1, LOC126861068	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640940	NM_001377530.1(DMBT1):c.7024C>T (p.Arg2342Cys)	DMBT1, LOC126861068 (R1585C +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2538350	NM_001377530.1(DMBT1):c.7324T>C (p.Ser2442Pro)	DMBT1, LOC126861068 (S2312P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510815	NM_001377530.1(DMBT1):c.7033G>A (p.Val2345Ile)	DMBT1, LOC126861068 (V2345I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464530	NM_001377530.1(DMBT1):c.7123G>A (p.Glu2375Lys)	DMBT1, LOC126861068 (E1618K +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2383970	NM_001377530.1(DMBT1):c.7078A>G (p.Ile2360Val)	DMBT1, LOC126861068 (I2231V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371327	NM_001377530.1(DMBT1):c.7066G>A (p.Asp2356Asn)	DMBT1, LOC126861068 (D2217N +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2329859	NM_001377530.1(DMBT1):c.6986C>T (p.Ala2329Val)	DMBT1, LOC126861068 (A2200V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1340843	GRCh37/hg19 10q26.13(chr10:124323752-124382444)x1	DMBT1	Copy number loss	not provided	GLikely benign
Select item 563694	GRCh37/hg19 10q26.13(chr10:124319674-124382030)x1	DMBT1	Copy number loss	not provided	GLikely benign
Select item 100857	NM_001377530.1(DMBT1):c.1012T>C (p.Ser338Pro)	DMBT1 (S338P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance