Related gene-specific medical variations for Gene (Select 4720) - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358544	NM_001377299.1(NDUFS2):c.95+9G>A	LOC129931761, NDUFS2	Single nucleotide variant (intron variant)	NDUFS2-related disorder	GLikely benign
Select item 3267578	NM_005099.6(ADAMTS4):c.76C>A (p.Leu26Ile)	ADAMTS4, NDUFS2 (L26I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267568	NM_005099.6(ADAMTS4):c.183C>G (p.Ile61Met)	ADAMTS4, NDUFS2 (I61M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267553	NM_005099.6(ADAMTS4):c.551A>G (p.Lys184Arg)	ADAMTS4, NDUFS2 (K184R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267534	NM_005099.6(ADAMTS4):c.344C>T (p.Ala115Val)	ADAMTS4, NDUFS2 (A115V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267512	NM_005099.6(ADAMTS4):c.211G>A (p.Val71Ile)	ADAMTS4, NDUFS2 (V71I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3077485	NM_005099.6(ADAMTS4):c.625A>G (p.Arg209Gly)	NDUFS2, ADAMTS4 (R209G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077476	NM_005099.6(ADAMTS4):c.43C>T (p.Arg15Cys)	ADAMTS4, NDUFS2 (R15C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3077466	NM_005099.6(ADAMTS4):c.301G>A (p.Gly101Ser)	ADAMTS4, NDUFS2 (G101S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077431	NM_005099.6(ADAMTS4):c.227G>A (p.Gly76Asp)	ADAMTS4, NDUFS2 (G76D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077421	NM_005099.6(ADAMTS4):c.221G>A (p.Gly74Asp)	ADAMTS4, NDUFS2 (G74D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3024829	NM_005099.6(ADAMTS4):c.298T>C (p.Ser100Pro)	NDUFS2, ADAMTS4 (S100P)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2901771	NM_001377299.1(NDUFS2):c.16G>A (p.Ala6Thr)	LOC129931761, NDUFS2 (A6T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2888421	NM_001377299.1(NDUFS2):c.75A>G (p.Arg25=)	LOC129931761, NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2610824	NM_001377299.1(NDUFS2):c.53T>G (p.Leu18Arg)	LOC129931761, NDUFS2 (L18R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605864	NM_005099.6(ADAMTS4):c.41G>A (p.Gly14Glu)	ADAMTS4, NDUFS2 (G14E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598261	NM_005099.6(ADAMTS4):c.527C>G (p.Pro176Arg)	ADAMTS4, NDUFS2 (P176R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537579	NM_005099.6(ADAMTS4):c.545G>A (p.Arg182His)	ADAMTS4, NDUFS2 (R182H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523435	NM_005099.6(ADAMTS4):c.205G>A (p.Gly69Ser)	ADAMTS4, NDUFS2 (G69S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512660	NM_005099.6(ADAMTS4):c.272C>T (p.Thr91Met)	ADAMTS4, NDUFS2 (T91M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2434092	NM_001377299.1(NDUFS2):c.1004A>T (p.Glu335Val)	NDUFS2 (E309V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2374200	NM_005099.6(ADAMTS4):c.25G>A (p.Gly9Arg)	ADAMTS4, NDUFS2 (G9R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2353295	NM_005099.6(ADAMTS4):c.251G>A (p.Arg84His)	ADAMTS4, NDUFS2 (R84H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307086	NM_005099.6(ADAMTS4):c.376A>G (p.Thr126Ala)	NDUFS2, ADAMTS4 (T126A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299180	NM_005099.6(ADAMTS4):c.20A>G (p.His7Arg)	ADAMTS4, NDUFS2 (H7R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279296	NM_005099.6(ADAMTS4):c.548G>A (p.Arg183Gln)	ADAMTS4, NDUFS2 (R183Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257408	NM_005099.6(ADAMTS4):c.184G>A (p.Val62Met)	ADAMTS4, NDUFS2 (V62M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255821	NM_001377299.1(NDUFS2):c.80C>G (p.Pro27Arg)	LOC129931761, NDUFS2 (P27R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2192777	NM_001377299.1(NDUFS2):c.25G>A (p.Gly9Ser)	LOC129931761, NDUFS2 (G9S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2136289	NM_001377299.1(NDUFS2):c.59C>T (p.Pro20Leu)	LOC129931761, NDUFS2 (P20L)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 6 +1 more	GUncertain significance
Select item 1991136	NM_001377299.1(NDUFS2):c.95+11G>A	LOC129931761, NDUFS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1948439	NM_001377299.1(NDUFS2):c.63G>T (p.Gly21=)	LOC129931761, NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1537297	NM_001377299.1(NDUFS2):c.60T>G (p.Pro20=)	LOC129931761, NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1324786	NM_001377299.1(NDUFS2):c.646C>T (p.Arg216Ter)	NDUFS2 (R216*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 516382	NM_001377299.1(NDUFS2):c.39C>A (p.Val13=)	LOC129931761, NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 514078	NM_004550.5(NDUFS2):c.-26T>A	LOC129931761, NDUFS2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 507519	NM_004550.5(NDUFS2):c.-45T>C	LOC129931761, NDUFS2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 391385	NM_001377299.1(NDUFS2):c.95+8C>T	LOC129931761, NDUFS2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 293270	NM_001377299.1(NDUFS2):c.95+14C>T	LOC129931761, NDUFS2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 293269	NM_001377299.1(NDUFS2):c.58C>A (p.Pro20Thr)	NDUFS2, LOC129931761 (P20T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 293268	NM_004550.5(NDUFS2):c.-28C>T	NDUFS2, LOC129931761	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 235676	NM_001377299.1(NDUFS2):c.736C>A (p.Gln246Lys)	NDUFS2 (Q246K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 214790	NM_001377299.1(NDUFS2):c.95+9G>C	LOC129931761, NDUFS2	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 6 +2 more	GBenign/Likely benign
Select item 214789	NM_001377299.1(NDUFS2):c.70G>C (p.Val24Leu)	LOC129931761, NDUFS2 (V24L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 214788	NM_001377299.1(NDUFS2):c.30C>A (p.Phe10Leu)	LOC129931761, NDUFS2 (F10L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 138489	NM_004550.5(NDUFS2):c.-20C>T	LOC129931761, NDUFS2	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity

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Links from Gene

Items: 46