NDUFC2[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	LOC130006570, LOC130006571 +474 more	Copy number loss	See cases	GPathogenic
Select item 2642196	NM_004549.6(NDUFC2):c.*111G>A	NDUFC2, NDUFC2-KCTD14	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3026373	NM_004549.6(NDUFC2):c.*87T>C	NDUFC2, NDUFC2-KCTD14	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 813296	NM_004549.6(NDUFC2):c.346_*7del (p.His116fs)	NDUFC2, NDUFC2-KCTD14 (H93fs +1 more)	Deletion (frameshift variant +1 more)	Mitochondrial disease	GPathogenic
Select item 2642197	NM_004549.6(NDUFC2):c.259C>T (p.Arg87Cys)	NDUFC2, NDUFC2-KCTD14 (R64C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 813295	NM_004549.6(NDUFC2):c.173A>T (p.His58Leu)	NDUFC2, NDUFC2-KCTD14 (H58L)	Single nucleotide variant (missense variant +1 more)	Mitochondrial disease	GPathogenic
Select item 2685050	GRCh37/hg19 11q14.1(chr11:77541456-77832469)x4	AAMDC, ALG8 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2684649	GRCh37/hg19 11q14.1(chr11:77410576-77785957)x3	AAMDC, INTS4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1808749	GRCh37/hg19 11q14.1(chr11:77211136-78014355)x3	AAMDC, ALG8 +11 more	Copy number gain	not provided	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527653	GRCh37/hg19 11q14.1(chr11:77776112-77921527)	ALG8, KCTD21 +4 more	Copy number loss	not specified	GUncertain significance
Select item 1527652	GRCh37/hg19 11q14.1(chr11:77415541-77785783)	AAMDC, INTS4 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1177498	GRCh37/hg19 11q14.1(chr11:77617820-77784237)x3	INTS4, KCTD14 +3 more	Copy number gain	not provided	Gnot provided
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 980957	GRCh37/hg19 11q14.1(chr11:77575261-77902589)x3	AAMDC, ALG8 +7 more	Copy number gain	not provided	GUncertain significance
Select item 688702	GRCh37/hg19 11q14.1(chr11:77410575-77785783)x3	AAMDC, INTS4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 688177	GRCh37/hg19 11q14.1(chr11:77410575-77785783)x3	AAMDC, INTS4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 21