"Ambry Genetics"[submitter] AND "KLF9-DT"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2399971	NM_001366145.2(TRPM3):c.5027G>A (p.Arg1676Gln)	KLF9-DT, TRPM3 (R1501Q +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2515734	NM_001366145.2(TRPM3):c.5026C>T (p.Arg1676Trp)	KLF9-DT, TRPM3 (R1513W +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3183338	NM_001366145.2(TRPM3):c.4970C>A (p.Ala1657Glu)	KLF9-DT, TRPM3 (A1482E +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2487115	NM_001366145.2(TRPM3):c.4943A>G (p.Asn1648Ser)	KLF9-DT, TRPM3 (N1483S +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3183337	NM_001366145.2(TRPM3):c.4922T>G (p.Val1641Gly)	KLF9-DT, TRPM3 (V1476G +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2483331	NM_001366145.2(TRPM3):c.4862T>C (p.Ile1621Thr)	KLF9-DT, TRPM3 (I1456T +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3183336	NM_001366145.2(TRPM3):c.4768G>T (p.Asp1590Tyr)	KLF9-DT, TRPM3 (D1425Y +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3183335	NM_001366145.2(TRPM3):c.4687A>G (p.Ile1563Val)	KLF9-DT, TRPM3 (I1410V +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3183334	NM_001366145.2(TRPM3):c.4567C>G (p.Leu1523Val)	KLF9-DT, TRPM3 (L1358V +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3183333	NM_001366145.2(TRPM3):c.4544G>A (p.Arg1515His)	KLF9-DT, TRPM3 (R1375H +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3183332	NM_001366145.2(TRPM3):c.4412T>C (p.Ile1471Thr)	KLF9-DT, TRPM3 (I1306T +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2488489	NM_001366145.2(TRPM3):c.4411A>G (p.Ile1471Val)	KLF9-DT, TRPM3 (I1459V +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2336858	NM_001366145.2(TRPM3):c.4385C>T (p.Pro1462Leu)	KLF9-DT, TRPM3 (P1312L +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2393353	NM_001366145.2(TRPM3):c.4376C>A (p.Thr1459Lys)	KLF9-DT, TRPM3 (T1294K +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3183331	NM_001366145.2(TRPM3):c.4352C>T (p.Ala1451Val)	KLF9-DT, TRPM3 (A1276V +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294061	NM_001366145.2(TRPM3):c.4334C>T (p.Thr1445Ile)	KLF9-DT, TRPM3 (T1280I +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3183330	NM_001366145.2(TRPM3):c.4307T>C (p.Leu1436Pro)	KLF9-DT, TRPM3 (L1271P +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2290951	NM_001366145.2(TRPM3):c.4297G>A (p.Val1433Met)	KLF9-DT, TRPM3 (V1258M +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3183329	NM_001366145.2(TRPM3):c.4286T>C (p.Leu1429Pro)	KLF9-DT, TRPM3 (L1279P +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2338253	NM_001366145.2(TRPM3):c.4277T>C (p.Ile1426Thr)	KLF9-DT, TRPM3 (I1261T +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2341009	NM_001366145.2(TRPM3):c.4201A>G (p.Ile1401Val)	KLF9-DT, TRPM3 (I1391V +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2330026	NM_001366145.2(TRPM3):c.4092G>T (p.Lys1364Asn)	KLF9-DT, TRPM3 (K1224N +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2476528	NM_001366145.2(TRPM3):c.4071A>T (p.Lys1357Asn)	KLF9-DT, TRPM3 (K1204N +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210054	NM_001366145.2(TRPM3):c.4068G>A (p.Met1356Ile)	KLF9-DT, TRPM3 (M1206I +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3183328	NM_001366145.2(TRPM3):c.3977G>A (p.Ser1326Asn)	KLF9-DT, TRPM3 (S1163N +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183327	NM_001366145.2(TRPM3):c.3967C>A (p.Leu1323Ile)	KLF9-DT, TRPM3 (L1158I +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494081	NM_001366145.2(TRPM3):c.3938T>C (p.Phe1313Ser)	KLF9-DT, TRPM3 (F1160S +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183326	NM_001366145.2(TRPM3):c.3881G>A (p.Arg1294His)	KLF9-DT, TRPM3 (R1119H +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183325	NM_001366145.2(TRPM3):c.3880C>T (p.Arg1294Cys)	KLF9-DT, TRPM3 (R1154C +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183324	NM_001366145.2(TRPM3):c.3865G>A (p.Glu1289Lys)	KLF9-DT, TRPM3 (E1304K +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246039	NM_001366145.2(TRPM3):c.3797C>T (p.Ala1266Val)	KLF9-DT, TRPM3 (A1101V +12 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2363353	NM_001366145.2(TRPM3):c.3781G>A (p.Val1261Met)	KLF9-DT, TRPM3 (V1111M +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 32