ClinVar for MedGen (Select 675590) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2443004	NM_002047.4(GARS1):c.1625T>C (p.Ile542Thr)	GARS1 (I488T +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1330212	GRCh37/hg19 1q21.1(chr1:145324298-146018577)x3	ANKRD34A, ANKRD35 +15 more	Copy number gain	Microcephaly +6 more	GUncertain significance
Select item 984796	NM_018972.4(GDAP1):c.311-15G>A	GDAP1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 981178	NM_002109.6(HARS1):c.1458+11T>C	HARS1	Single nucleotide variant (intron variant)	Pes cavus	GUncertain significance
Select item 523416	NM_001145026.2(PTPRQ):c.6475C>T (p.Arg2159Ter)	PTPRQ (R2159*)	Single nucleotide variant (nonsense)	not provided +7 more	GPathogenic
Select item 374099	NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys)	DYNC1H1 (R251C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
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)	Congenital muscular hypertrophy-cerebral syndrome +9 more	GUncertain significance
Select item 373934	NM_000166.6(GJB1):c.502T>G (p.Cys168Gly)	GJB1 (C168G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1 +5 more	GLikely pathogenic
Select item 267882	46;XX;inv(7)(q11.23q36.3)dn		Inversion	Congenital finger flexion contractures +13 more	GPathogenic
Select item 234414	NM_024577.4(SH3TC2):c.3380G>A (p.Arg1127Gln)	SH3TC2 (R1127Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +10 more	GConflicting classifications of pathogenicity
Select item 14176	NM_000530.8(MPZ):c.293G>A (p.Arg98His)	MPZ (R98H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +10 more	GPathogenic/Likely pathogenic
Select item 14029	NM_006158.5(NEFL):c.64C>T (p.Pro22Ser)	NEFL (P22S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +10 more	GPathogenic/Likely pathogenic