"Ambry Genetics"[submitter] AND "CHCHD3"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3266814	NM_017812.4(CHCHD3):c.677G>A (p.Gly226Glu)	CHCHD3 (G226E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532420	NM_017812.4(CHCHD3):c.602C>A (p.Thr201Asn)	CHCHD3 (T201N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515806	NM_017812.4(CHCHD3):c.583C>T (p.Arg195Cys)	CHCHD3 (R200C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494429	NM_017812.4(CHCHD3):c.448G>A (p.Glu150Lys)	CHCHD3 (E155K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490847	NM_017812.4(CHCHD3):c.395G>A (p.Arg132Gln)	CHCHD3 (R132Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266809	NM_017812.4(CHCHD3):c.370G>T (p.Ala124Ser)	CHCHD3 (A129S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329853	NM_017812.4(CHCHD3):c.358G>A (p.Ala120Thr)	CHCHD3 (A120T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144063	NM_017812.4(CHCHD3):c.350G>A (p.Arg117His)	CHCHD3 (R117H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266812	NM_017812.4(CHCHD3):c.325G>A (p.Glu109Lys)	CHCHD3 (E109K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214201	NM_017812.4(CHCHD3):c.259C>G (p.Gln87Glu)	CHCHD3 (Q87E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389203	NM_017812.4(CHCHD3):c.238G>A (p.Glu80Lys)	CHCHD3 (E80K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266813	NM_017812.4(CHCHD3):c.155C>T (p.Ala52Val)	CHCHD3 (A52V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144062	NM_017812.4(CHCHD3):c.119C>T (p.Ser40Phe)	CHCHD3 (S40F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621679	NM_017812.4(CHCHD3):c.104G>A (p.Arg35Gln)	CHCHD3 (R35Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance