"BMP6-related condition"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Search results

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3058879	NM_001718.6(BMP6):c.83G>A (p.Arg28Gln)	BMP6 (R28Q)	Single nucleotide variant (missense variant)	BMP6-related condition	GBenign
Select item 3056390	NM_001718.6(BMP6):c.225G>A (p.Glu75=)	BMP6	Single nucleotide variant (synonymous variant)	BMP6-related condition	GBenign
Select item 3037636	NM_001718.6(BMP6):c.335AGC[8] (p.Gln118_Leu119insGln)	BMP6	Microsatellite (inframe insertion)	BMP6-related condition	GBenign
Select item 1801216	NM_001718.6(BMP6):c.337C>G (p.Gln113Glu)	BMP6	Single nucleotide variant (missense variant)	BMP6-related condition +1 more	GBenign/Likely benign
Select item 3056089	NM_001718.6(BMP6):c.339G>A (p.Gln113=)	BMP6	Single nucleotide variant (synonymous variant)	BMP6-related condition	GBenign
Select item 788354	NM_001718.6(BMP6):c.480C>T (p.Ser160=)	BMP6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3038597	NM_001718.6(BMP6):c.565G>A (p.Ala189Thr)	BMP6 (A189T)	Single nucleotide variant (missense variant)	BMP6-related condition	GBenign
Select item 3053296	NM_001718.6(BMP6):c.567C>T (p.Ala189=)	BMP6	Single nucleotide variant (synonymous variant)	BMP6-related condition	GLikely benign
Select item 3049758	NM_001718.6(BMP6):c.612G>A (p.Gln204=)	BMP6	Single nucleotide variant (synonymous variant)	BMP6-related condition	GLikely benign
Select item 3041229	NM_001718.6(BMP6):c.636G>A (p.Ala212=)	BMP6	Single nucleotide variant (synonymous variant)	BMP6-related condition	GBenign
Select item 3042905	NM_001718.6(BMP6):c.661C>T (p.Leu221=)	BMP6	Single nucleotide variant (synonymous variant)	BMP6-related condition	GLikely benign
Select item 3058627	NM_001718.6(BMP6):c.665-3T>C	BMP6	Single nucleotide variant (intron variant)	BMP6-related condition	GLikely benign
Select item 3053293	NM_001718.6(BMP6):c.877T>C (p.Leu293=)	BMP6	Single nucleotide variant (synonymous variant)	BMP6-related condition	GLikely benign
Select item 3049896	NM_001718.6(BMP6):c.1014C>T (p.His338=)	BMP6	Single nucleotide variant (synonymous variant)	BMP6-related condition	GBenign
Select item 3037229	NM_001718.6(BMP6):c.1029C>T (p.Ala343=)	BMP6	Single nucleotide variant (synonymous variant)	BMP6-related condition	GBenign
Select item 3056887	NM_001718.6(BMP6):c.1062C>T (p.Asp354=)	BMP6	Single nucleotide variant (synonymous variant)	BMP6-related condition	GBenign
Select item 3059297	NM_001718.6(BMP6):c.1104G>C (p.Val368=)	BMP6	Single nucleotide variant (synonymous variant)	BMP6-related condition	GBenign
Select item 3039734	NM_001718.6(BMP6):c.1107C>T (p.His369=)	BMP6	Single nucleotide variant (synonymous variant)	BMP6-related condition	GLikely benign
Select item 3056476	NM_001718.6(BMP6):c.1188G>T (p.Arg396=)	BMP6	Single nucleotide variant (synonymous variant)	BMP6-related condition	GLikely benign
Select item 3053020	NM_001718.6(BMP6):c.1374C>T (p.His458=)	BMP6	Single nucleotide variant (synonymous variant)	BMP6-related condition	GLikely benign
Select item 3058673	NM_001718.6(BMP6):c.1392+7T>G	BMP6	Single nucleotide variant (intron variant)	BMP6-related condition	GLikely benign

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Items: 21