"Ambry Genetics"[submitter] AND "DAB2"[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2602946	NM_001343.4(DAB2):c.2291C>T (p.Pro764Leu)	DAB2 (P743L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340478	NM_001343.4(DAB2):c.2278A>T (p.Met760Leu)	DAB2 (M739L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079891	NM_001343.4(DAB2):c.2245T>C (p.Ser749Pro)	DAB2 (S749P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270772	NM_001343.4(DAB2):c.2113A>C (p.Asn705His)	DAB2 (N684H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615445	NM_001343.4(DAB2):c.2030G>C (p.Gly677Ala)	DAB2 (G677A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533529	NM_001343.4(DAB2):c.2005C>G (p.Arg669Gly)	DAB2 (R669G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370531	NM_001343.4(DAB2):c.2002G>A (p.Ala668Thr)	DAB2 (A668T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362603	NM_001343.4(DAB2):c.1997T>G (p.Val666Gly)	DAB2 (V645G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079890	NM_001343.4(DAB2):c.1948G>T (p.Asp650Tyr)	DAB2 (D629Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079889	NM_001343.4(DAB2):c.1896C>G (p.Ile632Met)	DAB2 (I611M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079888	NM_001343.4(DAB2):c.1836C>G (p.His612Gln)	DAB2 (H591Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517720	NM_001343.4(DAB2):c.1814C>A (p.Ser605Tyr)	DAB2 (S584Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079887	NM_001343.4(DAB2):c.1770G>T (p.Leu590Phe)	DAB2 (L569F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240429	NM_001343.4(DAB2):c.1729G>A (p.Ala577Thr)	DAB2 (A556T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334239	NM_001343.4(DAB2):c.1615G>A (p.Gly539Ser)	DAB2 (G539S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079886	NM_001343.4(DAB2):c.1586C>T (p.Pro529Leu)	DAB2 (P508L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407271	NM_001343.4(DAB2):c.1583C>T (p.Ala528Val)	DAB2 (A528V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2262760	NM_001343.4(DAB2):c.1483G>A (p.Val495Met)	DAB2, LOC126807370 (V474M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270775	NM_001343.4(DAB2):c.1420G>C (p.Gly474Arg)	DAB2, LOC126807370 (G474R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270773	NM_001343.4(DAB2):c.1405C>G (p.Gln469Glu)	DAB2, LOC126807370 (Q469E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079885	NM_001343.4(DAB2):c.1306A>T (p.Ser436Cys)	DAB2, LOC126807371 (S415C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219140	NM_001343.4(DAB2):c.1274A>G (p.His425Arg)	DAB2, LOC126807371 (H425R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079884	NM_001343.4(DAB2):c.1057C>T (p.Arg353Trp)	DAB2, LOC126807371 (R353W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531468	NM_001343.4(DAB2):c.1034A>G (p.Gln345Arg)	DAB2, LOC126807371 (Q324R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303819	NM_001343.4(DAB2):c.1024T>C (p.Tyr342His)	DAB2, LOC126807371 (Y321H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079883	NM_001343.4(DAB2):c.1003C>T (p.Pro335Ser)	DAB2, LOC126807371 (P314S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490289	NM_001343.4(DAB2):c.1000G>T (p.Gly334Trp)	DAB2, LOC126807371 (G313W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598537	NM_001343.4(DAB2):c.922C>A (p.Pro308Thr)	DAB2, LOC126807371 (P308T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223550	NM_001343.4(DAB2):c.901A>C (p.Thr301Pro)	DAB2, LOC126807371 (T301P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314205	NM_001343.4(DAB2):c.871A>G (p.Asn291Asp)	DAB2, LOC126807371 (N291D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383543	NM_001343.4(DAB2):c.800G>A (p.Arg267Gln)	DAB2, LOC126807371 (R267Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522306	NM_001343.4(DAB2):c.677A>G (p.Asn226Ser)	DAB2 (N226S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306450	NM_001343.4(DAB2):c.661A>G (p.Thr221Ala)	DAB2 (T221A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270771	NM_001343.4(DAB2):c.634C>A (p.Gln212Lys)	DAB2 (Q212K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518866	NM_001343.4(DAB2):c.629T>A (p.Val210Asp)	DAB2 (V210D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596361	NM_001343.4(DAB2):c.617T>C (p.Leu206Pro)	DAB2 (L206P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2532967	NM_001343.4(DAB2):c.553G>A (p.Ala185Thr)	DAB2 (A185T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079894	NM_001343.4(DAB2):c.492C>A (p.Asp164Glu)	DAB2 (D164E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322695	NM_001343.4(DAB2):c.475G>T (p.Val159Phe)	DAB2 (V159F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492788	NM_001343.4(DAB2):c.451A>T (p.Thr151Ser)	DAB2 (T151S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079893	NM_001343.4(DAB2):c.423A>C (p.Glu141Asp)	DAB2 (E141D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277686	NM_001343.4(DAB2):c.397G>T (p.Ala133Ser)	DAB2 (A133S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079892	NM_001343.4(DAB2):c.373G>T (p.Ala125Ser)	DAB2 (A125S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522424	NM_001343.4(DAB2):c.232G>C (p.Gly78Arg)	DAB2 (G78R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552513	NM_001343.4(DAB2):c.65C>A (p.Ala22Glu)	DAB2 (A22E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 45