Related gene-specific medical variations for Gene (Select 27247) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338690	NFU1, 55.6-KB DEL, EX4-8DEL	NFU1	Deletion	Multiple mitochondrial dysfunctions syndrome 1	GPathogenic
Select item 3338689	NM_001002755.4(NFU1):c.62G>C (p.Arg21Pro)	LOC129934004, NFU1 (R21P)	Single nucleotide variant (missense variant +3 more)	Multiple mitochondrial dysfunctions syndrome 1	GPathogenic
Select item 3338679	NFU1, 1-BP DEL, 146C	NFU1	Deletion	SPASTIC PARAPLEGIA 93, AUTOSOMAL RECESSIVE	GPathogenic
Select item 3299568	NM_001002755.4(NFU1):c.49G>C (p.Gly17Arg)	LOC129934004, NFU1 (G17R)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3198554	NM_001002755.4(NFU1):c.59G>A (p.Arg20Lys)	LOC129934004, NFU1 (R20K)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3198548	NM_001002755.4(NFU1):c.32C>G (p.Ala11Gly)	LOC129934004, NFU1 (A11G)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2407460	NM_001002755.4(NFU1):c.49G>A (p.Gly17Arg)	LOC129934004, NFU1 (G17R)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2177062	NM_001002755.4(NFU1):c.4G>A (p.Ala2Thr)	LOC129934004, NFU1 (A2T)	Single nucleotide variant (missense variant +3 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 2118008	NM_001002755.4(NFU1):c.39T>G (p.Ala13=)	LOC129934004, NFU1	Single nucleotide variant (synonymous variant +3 more)	Multiple mitochondrial dysfunctions syndrome 1	GLikely benign
Select item 2026671	NM_001002755.4(NFU1):c.19C>A (p.Arg7=)	LOC129934004, NFU1	Single nucleotide variant (synonymous variant +3 more)	Multiple mitochondrial dysfunctions syndrome 1	GLikely benign
Select item 1939947	NM_001002755.4(NFU1):c.62+12G>A	LOC129934004, NFU1	Single nucleotide variant (5 prime UTR variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GLikely benign
Select item 1537854	NM_001002755.4(NFU1):c.62+14C>G	LOC129934004, NFU1	Single nucleotide variant (5 prime UTR variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GLikely benign
Select item 1521113	NM_001002755.4(NFU1):c.8C>G (p.Ala3Gly)	LOC129934004, NFU1 (A3G)	Single nucleotide variant (missense variant +3 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 1412325	NM_001002755.4(NFU1):c.20G>T (p.Arg7Leu)	LOC129934004, NFU1 (R7L)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1342045	NM_001002755.4(NFU1):c.17G>A (p.Arg6Lys)	LOC129934004, NFU1 (R6K)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 899272	NM_001002755.4(NFU1):c.-7G>A	LOC129934004, NFU1	Single nucleotide variant (5 prime UTR variant +2 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 898174	NM_001002755.4(NFU1):c.12G>A (p.Thr4=)	LOC129934004, NFU1	Single nucleotide variant (synonymous variant +3 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 804384	NM_001002755.4(NFU1):c.485-1G>C	NFU1	Single nucleotide variant (splice acceptor variant)	Multiple mitochondrial dysfunctions syndrome 1	GLikely pathogenic
Select item 383295	NM_001002755.4(NFU1):c.62+14C>T	LOC129934004, NFU1	Single nucleotide variant (5 prime UTR variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1 +1 more	GLikely benign
Select item 378271	NM_001002755.4(NFU1):c.48C>T (p.Ala16=)	LOC129934004, NFU1	Single nucleotide variant (intron variant +3 more)	not specified	GLikely benign
Select item 336895	NM_001002755.4(NFU1):c.-1G>A	LOC129934004, NFU1	Single nucleotide variant (5 prime UTR variant +2 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 336894	NM_001002755.4(NFU1):c.62+10G>A	LOC129934004, NFU1	Single nucleotide variant (5 prime UTR variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GConflicting classifications of pathogenicity
Select item 138518	NM_001002755.4(NFU1):c.62+9C>T	LOC129934004, NFU1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 138517	NM_001002755.4(NFU1):c.-6A>G	LOC129934004, NFU1	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +1 more	GBenign

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Links from Gene

Items: 24