"PreventionGenetics, part of Exact Sciences"[submitter] AND "DNAH14"[g - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3033978	NM_001367479.1(DNAH14):c.55G>T (p.Glu19Ter)	DNAH14 (E19*)	Single nucleotide variant (nonsense)	DNAH14-related disorder	GLikely benign
Select item 3052480	NM_001367479.1(DNAH14):c.295A>G (p.Arg99Gly)	DNAH14 (R99G)	Single nucleotide variant (missense variant +1 more)	DNAH14-related disorder	GLikely benign
Select item 3056432	NM_001367479.1(DNAH14):c.651+1G>A	DNAH14	Single nucleotide variant (splice donor variant +1 more)	DNAH14-related disorder	GLikely benign
Select item 3030715	NM_001367479.1(DNAH14):c.2028A>G (p.Arg676=)	DNAH14	Single nucleotide variant (synonymous variant)	DNAH14-related disorder	GLikely benign
Select item 3049223	NM_001367479.1(DNAH14):c.2113A>G (p.Met705Val)	DNAH14 (M705V)	Single nucleotide variant (missense variant)	DNAH14-related disorder	GLikely benign
Select item 2639946	NM_001367479.1(DNAH14):c.3397del (p.Met1133fs)	DNAH14 (M1133fs)	Deletion (frameshift variant)	DNAH14-related disorder +1 more	GBenign/Likely benign
Select item 3041663	NM_001367479.1(DNAH14):c.4255-50TA[7]	DNAH14	Microsatellite (intron variant)	DNAH14-related disorder	GLikely benign
Select item 3042918	NM_001367479.1(DNAH14):c.6568dup (p.Ile2190fs)	DNAH14 (I2190fs)	Duplication (frameshift variant)	DNAH14-related disorder	GLikely benign
Select item 3029448	NM_001367479.1(DNAH14):c.12571C>T (p.Gln4191Ter)	DNAH14 (Q4191*)	Single nucleotide variant (nonsense)	DNAH14-related disorder	GUncertain significance
Select item 2639959	NM_001367479.1(DNAH14):c.13690G>A (p.Ala4564Thr)	DNAH14 (A4564T)	Single nucleotide variant (missense variant)	DNAH14-related disorder +1 more	GLikely benign
Select item 2639960	NM_001367479.1(DNAH14):c.13854A>T (p.Ter4618Tyr)	DNAH14	Single nucleotide variant (stop lost)	DNAH14-related disorder +1 more	GLikely benign