"BDP1-related condition"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3058688	NM_018429.3(BDP1):c.852G>A (p.Glu284=)	BDP1	Single nucleotide variant (synonymous variant)	BDP1-related condition	GLikely benign
Select item 3040300	NM_018429.3(BDP1):c.2122T>C (p.Leu708=)	BDP1	Single nucleotide variant (synonymous variant)	BDP1-related condition	GLikely benign
Select item 513992	NM_018429.3(BDP1):c.2190A>G (p.Glu730=)	BDP1	Single nucleotide variant (synonymous variant)	BDP1-related condition +1 more	GLikely benign
Select item 804558	NM_018429.3(BDP1):c.2210A>G (p.Lys737Arg)	BDP1 (K737R)	Single nucleotide variant (missense variant)	BDP1-related condition +1 more	GLikely benign
Select item 3045179	NM_018429.3(BDP1):c.2307T>C (p.Pro769=)	BDP1	Single nucleotide variant (synonymous variant)	BDP1-related condition	GLikely benign
Select item 1278987	NM_018429.3(BDP1):c.2510T>G (p.Ile837Ser)	BDP1 (I837S)	Single nucleotide variant (missense variant)	BDP1-related condition +1 more	GBenign
Select item 682988	NM_018429.3(BDP1):c.2788G>A (p.Glu930Lys)	BDP1 (E930K)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1232100	NM_018429.3(BDP1):c.3043A>C (p.Thr1015Pro)	BDP1 (T1015P)	Single nucleotide variant (missense variant)	BDP1-related condition +1 more	GBenign/Likely benign
Select item 3058052	NM_018429.3(BDP1):c.3105A>G (p.Ile1035Met)	BDP1 (I1035M)	Single nucleotide variant (missense variant)	BDP1-related condition	GLikely benign
Select item 1236605	NM_018429.3(BDP1):c.3212G>C (p.Ser1071Thr)	BDP1 (S1071T)	Single nucleotide variant (missense variant)	BDP1-related condition +1 more	GBenign
Select item 1318238	NM_018429.3(BDP1):c.3364G>A (p.Gly1122Arg)	BDP1 (G1122R)	Single nucleotide variant (missense variant)	BDP1-related condition +1 more	GLikely benign
Select item 1247603	NM_018429.3(BDP1):c.3797A>C (p.Glu1266Ala)	BDP1 (E1266A)	Single nucleotide variant (missense variant)	BDP1-related condition +1 more	GBenign/Likely benign
Select item 3054127	NM_018429.3(BDP1):c.4065T>G (p.Ile1355Met)	BDP1 (I1355M)	Single nucleotide variant (missense variant)	BDP1-related condition	GLikely benign
Select item 2578979	NM_018429.3(BDP1):c.4671C>A (p.Phe1557Leu)	BDP1 (F1557L)	Single nucleotide variant (missense variant)	BDP1-related condition +1 more	GLikely benign
Select item 1315765	NM_018429.3(BDP1):c.5053G>C (p.Ala1685Pro)	BDP1 (A1685P)	Single nucleotide variant (missense variant)	BDP1-related condition +1 more	GLikely benign
Select item 684186	NM_018429.3(BDP1):c.5548C>T (p.Arg1850Trp)	BDP1 (R1850W)	Single nucleotide variant (missense variant)	BDP1-related condition +1 more	GBenign/Likely benign
Select item 1317870	NM_018429.3(BDP1):c.6144T>A (p.Thr2048=)	BDP1	Single nucleotide variant (synonymous variant)	BDP1-related condition +1 more	GLikely benign
Select item 1316321	NM_018429.3(BDP1):c.6370A>G (p.Ser2124Gly)	BDP1 (S2124G)	Single nucleotide variant (missense variant)	BDP1-related condition +1 more	GLikely benign
Select item 3035410	NM_018429.3(BDP1):c.6390G>A (p.Gly2130=)	BDP1	Single nucleotide variant (synonymous variant)	BDP1-related condition	GLikely benign
Select item 3036613	NM_018429.3(BDP1):c.6413-4T>C	BDP1	Single nucleotide variant (intron variant)	BDP1-related condition	GLikely benign
Select item 512839	NM_018429.3(BDP1):c.7258C>G (p.Gln2420Glu)	BDP1 (Q2420E)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1316161	NM_018429.3(BDP1):c.7575C>T (p.Val2525=)	BDP1	Single nucleotide variant (synonymous variant)	BDP1-related condition +1 more	GLikely benign
Select item 682762	NM_018429.3(BDP1):c.7664A>G (p.Asn2555Ser)	BDP1 (N2555S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign

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Items: 23