"Ambry Genetics"[submitter] AND "BMP2K"[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3261180	NM_198892.2(BMP2K):c.19A>G (p.Met7Val)	BMP2K (M7V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261179	NM_198892.2(BMP2K):c.44G>A (p.Gly15Asp)	BMP2K (G15D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612410	NM_198892.2(BMP2K):c.59G>C (p.Gly20Ala)	BMP2K (G20A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221997	NM_198892.2(BMP2K):c.71G>A (p.Gly24Asp)	BMP2K (G24D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134530	NM_198892.2(BMP2K):c.98G>C (p.Gly33Ala)	BMP2K (G33A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261178	NM_198892.2(BMP2K):c.130T>C (p.Phe44Leu)	BMP2K (F44L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375461	NM_198892.2(BMP2K):c.149A>C (p.Gln50Pro)	BMP2K (Q50P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554229	NM_198892.2(BMP2K):c.250A>G (p.Asn84Asp)	BMP2K (N84D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261177	NM_198892.2(BMP2K):c.281G>A (p.Arg94Lys)	BMP2K (R94K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134525	NM_198892.2(BMP2K):c.292A>G (p.Ile98Val)	BMP2K (I98V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492992	NM_198892.2(BMP2K):c.340T>A (p.Cys114Ser)	BMP2K (C114S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231524	NM_198892.2(BMP2K):c.376G>A (p.Val126Ile)	BMP2K (V126I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593289	NM_198892.2(BMP2K):c.443C>T (p.Thr148Met)	BMP2K (T148M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261181	NM_198892.2(BMP2K):c.488G>C (p.Cys163Ser)	BMP2K (C163S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134526	NM_198892.2(BMP2K):c.497T>C (p.Val166Ala)	BMP2K (V166A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134527	NM_198892.2(BMP2K):c.523C>A (p.Pro175Thr)	BMP2K (P175T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310527	NM_198892.2(BMP2K):c.686A>G (p.Tyr229Cys)	BMP2K (Y229C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552559	NM_198892.2(BMP2K):c.746T>C (p.Ile249Thr)	BMP2K (I249T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541343	NM_198892.2(BMP2K):c.830A>G (p.Asn277Ser)	BMP2K (N277S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2492832	NM_198892.2(BMP2K):c.853C>T (p.Arg285Cys)	BMP2K (R285C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134528	NM_198892.2(BMP2K):c.865A>T (p.Asn289Tyr)	BMP2K (N289Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134529	NM_198892.2(BMP2K):c.905C>T (p.Pro302Leu)	BMP2K (P302L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528031	NM_198892.2(BMP2K):c.997A>G (p.Ile333Val)	BMP2K (I333V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590953	NM_198892.2(BMP2K):c.1019C>T (p.Pro340Leu)	BMP2K (P340L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134518	NM_198892.2(BMP2K):c.1102A>G (p.Ile368Val)	BMP2K (I368V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245605	NM_198892.2(BMP2K):c.1160T>G (p.Leu387Arg)	BMP2K (L387R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261175	NM_198892.2(BMP2K):c.1212C>A (p.Phe404Leu)	BMP2K (F404L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349161	NM_198892.2(BMP2K):c.1285C>A (p.Gln429Lys)	BMP2K (Q429K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134519	NM_198892.2(BMP2K):c.1370A>G (p.His457Arg)	BMP2K (H457R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134520	NM_198892.2(BMP2K):c.1375C>G (p.His459Asp)	BMP2K (H459D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134521	NM_198892.2(BMP2K):c.1376A>T (p.His459Leu)	BMP2K (H459L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307444	NM_198892.2(BMP2K):c.1594C>G (p.Gln532Glu)	BMP2K (Q532E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310206	NM_198892.2(BMP2K):c.1596G>C (p.Gln532His)	BMP2K (Q532H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384829	NM_198892.2(BMP2K):c.1664C>T (p.Pro555Leu)	BMP2K (P555L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261654	NM_198892.2(BMP2K):c.1732T>C (p.Tyr578His)	BMP2K (Y578H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134523	NM_198892.2(BMP2K):c.1757T>C (p.Val586Ala)	BMP2K (V586A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373191	NM_198892.2(BMP2K):c.1790A>G (p.Asn597Ser)	BMP2K (N597S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491179	NM_198892.2(BMP2K):c.1855C>T (p.Pro619Ser)	BMP2K (P619S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515379	NM_198892.2(BMP2K):c.1898C>G (p.Ser633Cys)	BMP2K (S633C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206641	NM_198892.2(BMP2K):c.1905A>C (p.Leu635Phe)	BMP2K (L635F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378029	NM_198892.2(BMP2K):c.2024A>G (p.Glu675Gly)	BMP2K, PAQR3 (E675G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226894	NM_198892.2(BMP2K):c.2146C>T (p.Pro716Ser)	BMP2K, PAQR3 (P716S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134524	NM_198892.2(BMP2K):c.2317A>G (p.Asn773Asp)	BMP2K, PAQR3 (N736D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276000	NM_198892.2(BMP2K):c.2791G>A (p.Val931Ile)	BMP2K, PAQR3 (V931I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2236573	NM_198892.2(BMP2K):c.3085T>A (p.Ser1029Thr)	BMP2K, PAQR3 (S1029T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 45