84987[Gene ID] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 58211	GRCh38/hg38 12q13.12(chr12:49840075-50315208)x3	AQP2, AQP5 +43 more	Copy number gain	See cases	GUncertain significance
Select item 1316340	NC_000012.12:g.50112057T>C	COX14	Single nucleotide variant	not provided	GLikely benign
Select item 1317115	NC_000012.12:g.50112104A>C	COX14	Single nucleotide variant	not provided	GLikely benign
Select item 388877	NM_032901.4(COX14):c.-9+15A>G	COX14, LOC130007876	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1291397	NM_032901.4(COX14):c.-8-1619T>C	COX14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227870	NM_032901.4(COX14):c.-8-1526G>A	COX14	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1317515	NM_032901.4(COX14):c.-8-1453C>T	COX14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249856	NM_032901.4(COX14):c.-8-1187T>C	COX14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257599	NM_032901.4(COX14):c.-8-300G>T	COX14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180260	NM_032901.4(COX14):c.-8-132C>T	COX14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 506726	NM_032901.4(COX14):c.-8-14A>G	COX14	Single nucleotide variant (intron variant)	Mitochondrial complex 4 deficiency, nuclear type 10 +1 more	GLikely benign
Select item 1933098	NM_032901.4(COX14):c.3G>A (p.Met1Ile)	COX14 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2333506	NM_032901.4(COX14):c.23C>G (p.Ala8Gly)	COX14 (A8G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2024361	NM_032901.4(COX14):c.32G>C (p.Gly11Ala)	COX14 (G11A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2768831	NM_032901.4(COX14):c.42C>T (p.Thr14=)	COX14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3269041	NM_032901.4(COX14):c.49A>C (p.Thr17Pro)	COX14 (T17P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 31196	NM_032901.4(COX14):c.57G>A (p.Met19Ile)	COX14 (M19I)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 10	GPathogenic
Select item 1346928	NM_032901.4(COX14):c.68C>T (p.Thr23Ile)	COX14 (T23I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1474457	NM_032901.4(COX14):c.74A>G (p.Tyr25Cys)	COX14 (Y25C)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 10 +1 more	GUncertain significance
Select item 214250	NM_032901.4(COX14):c.81dup (p.Tyr28fs)	COX14 (Y28fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1921366	NM_032901.4(COX14):c.81G>A (p.Gly27=)	COX14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2419447	NM_032901.4(COX14):c.82del (p.Tyr28fs)	COX14 (Y28fs)	Deletion (frameshift variant)	not provided +1 more	GUncertain significance
Select item 2465198	NM_032901.4(COX14):c.98G>A (p.Arg33Gln)	COX14 (R33Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2766227	NM_032901.4(COX14):c.108del (p.Tyr37fs)	COX14 (Y37fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 214249	NM_032901.4(COX14):c.121C>T (p.Arg41Cys)	COX14 (R41C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1939917	NM_032901.4(COX14):c.122G>A (p.Arg41His)	COX14 (R41H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1396159	NM_032901.4(COX14):c.134G>A (p.Arg45His)	COX14 (R45H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2191004	NM_032901.4(COX14):c.141C>T (p.Ala47=)	COX14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2129857	NM_032901.4(COX14):c.147A>G (p.Glu49=)	COX14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009894	NM_032901.4(COX14):c.148G>A (p.Glu50Lys)	COX14 (E50K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 559379	NM_032901.4(COX14):c.150A>G (p.Glu50=)	COX14	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1952748	NM_032901.4(COX14):c.151C>T (p.Gln51Ter)	COX14 (Q51*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1480415	NM_032901.4(COX14):c.160T>C (p.Ser54Pro)	COX14 (S54P)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 10 +1 more	GUncertain significance
Select item 2985807	NM_032901.4(COX14):c.164G>T (p.Gly55Val)	COX14 (G55V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1316344	NM_032901.4(COX14):c.*82C>G	COX14	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1317992	NM_032901.4(COX14):c.*93C>T	COX14	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 41