"PreventionGenetics, part of Exact Sciences"[submitter] AND "KLF9-DT"[ - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3033457	NM_001366145.2(TRPM3):c.5070C>G (p.Ser1690=)	KLF9-DT, TRPM3	Single nucleotide variant (synonymous variant +1 more)	TRPM3-related disorder	GLikely benign
Select item 2659246	NM_001366145.2(TRPM3):c.4970C>T (p.Ala1657Val)	KLF9-DT, TRPM3 (A1482V +9 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 3057944	NM_001366145.2(TRPM3):c.4938C>T (p.Arg1646=)	KLF9-DT, TRPM3	Single nucleotide variant (synonymous variant +1 more)	TRPM3-related disorder	GLikely benign
Select item 3039489	NM_001366145.2(TRPM3):c.4919C>T (p.Thr1640Ile)	KLF9-DT, TRPM3 (T1465I +9 more)	Single nucleotide variant (missense variant +1 more)	TRPM3-related disorder	GBenign
Select item 3042146	NM_001366145.2(TRPM3):c.4889A>T (p.Asn1630Ile)	KLF9-DT, TRPM3 (N1455I +9 more)	Single nucleotide variant (missense variant +1 more)	TRPM3-related disorder	GBenign
Select item 3039881	NM_001366145.2(TRPM3):c.4642G>A (p.Gly1548Arg)	KLF9-DT, TRPM3 (G1373R +9 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 3048440	NM_001366145.2(TRPM3):c.4477G>C (p.Glu1493Gln)	KLF9-DT, TRPM3 (E1318Q +9 more)	Single nucleotide variant (missense variant +1 more)	TRPM3-related disorder	GLikely benign
Select item 3045822	NM_001366145.2(TRPM3):c.4440C>T (p.Asp1480=)	KLF9-DT, TRPM3	Single nucleotide variant (synonymous variant +1 more)	TRPM3-related disorder	GLikely benign
Select item 3042958	NM_001366145.2(TRPM3):c.4317C>T (p.Gly1439=)	KLF9-DT, TRPM3	Single nucleotide variant (synonymous variant +1 more)	TRPM3-related disorder	GLikely benign
Select item 3040634	NM_001366145.2(TRPM3):c.4296C>T (p.Ser1432=)	KLF9-DT, TRPM3	Single nucleotide variant (synonymous variant +1 more)	TRPM3-related disorder	GLikely benign
Select item 2659248	NM_001366145.2(TRPM3):c.3860G>A (p.Arg1287Gln)	KLF9-DT, TRPM3 (R1112Q +12 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3044121	NM_001366145.2(TRPM3):c.3831G>T (p.Thr1277=)	KLF9-DT, TRPM3	Single nucleotide variant (synonymous variant)	TRPM3-related disorder	GBenign
Select item 3042561	NM_001366145.2(TRPM3):c.3810C>A (p.Asp1270Glu)	KLF9-DT, TRPM3 (D1095E +12 more)	Single nucleotide variant (missense variant)	TRPM3-related disorder	GLikely benign
Select item 3033476	NM_001366145.2(TRPM3):c.3708-7C>T	KLF9-DT, TRPM3	Single nucleotide variant (intron variant)	TRPM3-related disorder	GLikely benign
Select item 3059561	NM_001366145.2(TRPM3):c.3575-7del	KLF9-DT, TRPM3	Deletion (intron variant)	TRPM3-related disorder	GBenign