Related gene-specific medical variations for Gene (Select 51142) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361066	NM_016139.4(CHCHD2):c.300G>C (p.Gln100His)	CHCHD2 (Q100H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3266808	NM_016139.4(CHCHD2):c.29C>G (p.Ser10Cys)	CHCHD2, LOC129998502 (S10C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2914692	NM_016139.4(CHCHD2):c.46G>A (p.Ala16Thr)	CHCHD2, LOC129998502 (A16T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2657516	NM_016139.4(CHCHD2):c.32G>A (p.Arg11His)	CHCHD2, LOC129998502 (R11H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2484093	NM_016139.4(CHCHD2):c.38C>T (p.Ala13Val)	CHCHD2, LOC129998502 (A13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2015448	NM_016139.4(CHCHD2):c.45G>C (p.Pro15=)	CHCHD2, LOC129998502	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1432319	NM_016139.4(CHCHD2):c.10G>A (p.Gly4Arg)	CHCHD2, LOC129998502 (G4R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1326121	NM_016139.4(CHCHD2):c.50+104C>A	CHCHD2, LOC129998502	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1275589	NM_016139.4(CHCHD2):c.-9T>G	CHCHD2, LOC129998502	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1271682	NM_016139.4(CHCHD2):c.-34C>A	CHCHD2, LOC129998502	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1249350	NM_016139.4(CHCHD2):c.50+87T>C	CHCHD2, LOC129998502	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1102651	NM_016139.4(CHCHD2):c.40C>T (p.Pro14Ser)	CHCHD2, LOC129998502 (P14S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 703422	NM_016139.4(CHCHD2):c.5C>T (p.Pro2Leu)	CHCHD2, LOC129998502 (P2L)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign