125988[geneid] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 59085	GRCh38/hg38 19p13.3(chr19:4934885-6501642)x3	LOC130063249, LOC130063250 +124 more	Copy number gain	See cases	GPathogenic
Select item 3126313	NM_205767.3(MICOS13):c.314A>G (p.Tyr105Cys)	MICOS13 (Y127C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3126312	NM_205767.3(MICOS13):c.307C>G (p.Arg103Gly)	MICOS13 (R103G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2171050	NM_205767.3(MICOS13):c.291G>A (p.Val97=)	MICOS13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2415537	NM_205767.3(MICOS13):c.288G>A (p.Ser96=)	MICOS13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3067289	NM_205767.3(MICOS13):c.262A>G (p.Ile88Val)	MICOS13 (I110V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1007450	NM_205767.2(MICOS13):c.260del	MICOS13	Deletion	not provided	GConflicting classifications of pathogenicity
Select item 425157	NM_205767.3(MICOS13):c.260-2A>G	MICOS13	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1682905	NM_205767.3(MICOS13):c.260-15G>A	MICOS13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2071883	NM_205767.3(MICOS13):c.259+7C>A	MICOS13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2190629	NM_205767.3(MICOS13):c.208-3C>A	MICOS13	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2065825	NM_205767.3(MICOS13):c.208-7_208-6del	MICOS13	Deletion (intron variant)	not provided	GBenign
Select item 2783395	NM_205767.3(MICOS13):c.208-20T>G	MICOS13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962000	NM_205767.3(MICOS13):c.207+19G>A	MICOS13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1526386	NM_205767.3(MICOS13):c.150del (p.Ala51fs)	LOC130063256, MICOS13 (A51fs +1 more)	Deletion (frameshift variant)	Combined oxidative phosphorylation deficiency 37 +1 more	GConflicting classifications of pathogenicity
Select item 3006557	NM_205767.3(MICOS13):c.147C>G (p.Pro49=)	LOC130063256, MICOS13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2007490	NM_205767.3(MICOS13):c.136G>A (p.Glu46Lys)	LOC130063256, MICOS13 (E46K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3126314	NM_205767.3(MICOS13):c.78C>A (p.Tyr26Ter)	LOC130063256, MICOS13 (Y26* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GLikely pathogenic
Select item 1948114	NM_205767.3(MICOS13):c.75G>A (p.Val25=)	LOC130063256, MICOS13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2710373	NM_205767.3(MICOS13):c.63C>T (p.Ala21=)	LOC130063256, MICOS13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3032293	NM_205767.3(MICOS13):c.54T>A (p.Ala18=)	LOC130063256, MICOS13	Single nucleotide variant (synonymous variant)	MICOS13-related disorder	GLikely benign
Select item 2851815	NM_205767.3(MICOS13):c.50T>C (p.Val17Ala)	LOC130063256, MICOS13 (V17A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 617631	NM_205767.3(MICOS13):c.44del (p.Gly15fs)	MICOS13 (G15fs +1 more)	Deletion (frameshift variant)	Combined oxidative phosphorylation deficiency 37 +1 more	GConflicting classifications of pathogenicity
Select item 619099	NM_205767.3(MICOS13):c.30-1G>A	MICOS13	Single nucleotide variant (splice acceptor variant)	Combined oxidative phosphorylation deficiency 37	GPathogenic
Select item 3047453	NM_205767.3(MICOS13):c.30-327C>T	MICOS13	Single nucleotide variant (synonymous variant +1 more)	MICOS13-related disorder	GLikely benign
Select item 1932086	NM_205767.3(MICOS13):c.29+19G>A	LOC130063259, MICOS13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1698103	NM_205767.3(MICOS13):c.1A>G (p.Met1Val)	LOC130063260, MICOS13 (M1V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	ABCA7, ABHD17A +202 more	Copy number gain	not provided	GPathogenic
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +151 more	Duplication	not provided	GUncertain significance
Select item 1682753	NC_000019.9:g.(?_5678562)_(5903719_?)dup	CATSPERD, DUS3L +10 more	Duplication	not provided	GUncertain significance
Select item 1682752	NC_000019.9:g.(?_5678562)_(5678679_?)dup	MICOS13	Duplication	not provided	GUncertain significance
Select item 1411282	NC_000019.9:g.(?_5678562)_(5897028_?)dup	CATSPERD, DUS3L +10 more	Duplication	not provided	GUncertain significance
Select item 688736	GRCh37/hg19 19p13.3(chr19:5513058-5776260)x3	CATSPERD, HSD11B1L +6 more	Copy number gain	not provided	GUncertain significance
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253731	GRCh37/hg19 19p13.3(chr19:5680833-5739465)x3	MICOS13, LONP1 +3 more	Copy number gain	See cases	GUncertain significance
Select item 221539	GRCh37/hg19 19p13.3(chr19:5679382-5694843)x3	HSD11B1L, LONP1 +2 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 40