ClinVar for MedGen (Select 57502) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1343403	NM_000158.4(GBE1):c.2102C>T (p.Pro701Leu)	GBE1 (P701L)	Single nucleotide variant (missense variant)	Polyneuropathy +1 more	GUncertain significance
Select item 982987	NM_001761.3(CCNF):c.290A>G (p.Lys97Arg)	CCNF (K97R)	Single nucleotide variant (5 prime UTR variant +1 more)	Polyneuropathy	GUncertain significance
Select item 973832	NM_020944.3(GBA2):c.1444A>C (p.Asn482His)	GBA2 (N482H)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +4 more	GUncertain significance
Select item 973831	NM_020944.3(GBA2):c.1807T>A (p.Trp603Arg)	GBA2 (W603R)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +3 more	GUncertain significance
Select item 694650	NM_001371279.1(REEP1):c.789G>A (p.Pro263=)	REEP1 (A174T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 689579	NM_030973.4(MED25):c.305+14C>G	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 689557	NM_003119.4(SPG7):c.87G>A (p.Trp29Ter)	LOC130059818, SPG7 (W29*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 7	GPathogenic
Select item 689550	NM_001376.5(DYNC1H1):c.2539-10C>A	DYNC1H1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 689547	NM_170707.4(LMNA):c.1270A>C (p.Thr424Pro)	LMNA (T312P +2 more)	Single nucleotide variant (missense variant)	Polyneuropathy	GUncertain significance
Select item 689545	NM_002693.3(POLG):c.2982G>C (p.Trp994Cys)	POLG, POLGARF (W994C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 689543	NM_030973.4(MED25):c.1086C>T (p.Pro362=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 437001	NM_198994.3(TGM6):c.691C>T (p.Arg231Ter)	TGM6 (R231*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 373982	NM_000123.4(ERCC5):c.2929_2930del (p.Leu977fs)	ERCC5, BIVM-ERCC5 (L977fs +1 more)	Microsatellite (frameshift variant)	Cognitive impairment +7 more	GLikely pathogenic
Select item 373969	NM_006306.4(SMC1A):c.2981A>G (p.Gln994Arg)	SMC1A (Q972R +1 more)	Single nucleotide variant (missense variant)	Pectus excavatum +10 more	GUncertain significance
Select item 221058	NM_030973.4(MED25):c.2088G>A (p.Leu696=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +3 more	GBenign/Likely benign
Select item 4200	NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)	GDAP1 (L239F +3 more)	Single nucleotide variant (missense variant +1 more)	Peripheral axonal neuropathy +11 more	GPathogenic/Likely pathogenic