"GeneDx"[submitter] AND "DNAH10"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	AACS, ABCB9 +892 more	Copy number gain	See cases	GPathogenic
Select item 57612	GRCh38/hg38 12q24.31-24.33(chr12:122985202-130714574)x1	AACS, ATP6V0A2 +292 more	Copy number loss	See cases	GPathogenic
Select item 402611	NM_001372106.1(DNAH10):c.682T>C (p.Ser228Pro)	DNAH10 (S167P +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2504523	NM_001372106.1(DNAH10):c.4751C>T (p.Thr1584Met)	DNAH10 (T1466M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1177925	NM_001372106.1(DNAH10):c.6292-20T>C	DNAH10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1331110	NM_001372106.1(DNAH10):c.6331C>T (p.Arg2111Trp)	DNAH10 (R1993W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1700506	NM_001372106.1(DNAH10):c.8870G>A (p.Arg2957Gln)	DNAH10 (R2839Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1700841	NM_001372106.1(DNAH10):c.11321C>T (p.Ala3774Val)	DNAH10, LOC126861667 (A3656V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700325	NM_001372106.1(DNAH10):c.11864G>A (p.Arg3955His)	DNAH10 (R3837H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1331109	NM_001372106.1(DNAH10):c.12124G>C (p.Glu4042Gln)	DNAH10, DNAH10OS (E3924Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504194	NM_001372106.1(DNAH10):c.12605T>C (p.Ile4202Thr)	DNAH10, DNAH10OS (I4084T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance