ClinVar for MedGen (Select 1765507) - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382513	NM_001303256.3(MORC2):c.2255C>G (p.Ala752Gly)	MORC2 (A690G +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy +1 more	GUncertain significance
Select item 3235749	NM_001303256.3(MORC2):c.810C>G (p.Cys270Trp)	MORC2 (C208W +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy	GLikely pathogenic
Select item 3067924	NM_001303256.3(MORC2):c.1604+1G>T	MORC2	Single nucleotide variant (splice donor variant)	Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy	GUncertain significance
Select item 2910880	NM_001303256.3(MORC2):c.2950G>A (p.Glu984Lys)	MORC2 (E922K +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Z +1 more	GUncertain significance
Select item 2864528	NM_001303256.3(MORC2):c.2023C>G (p.Arg675Gly)	MORC2 (R675G +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Z +1 more	GUncertain significance
Select item 2749315	NM_001303256.3(MORC2):c.318G>A (p.Ser106=)	MORC2	Single nucleotide variant (synonymous variant)	Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy +1 more	GUncertain significance
Select item 1802195	NM_001303256.3(MORC2):c.3031G>A (p.Asp1011Asn)	MORC2 (D1008N +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Z +1 more	GLikely pathogenic
Select item 1802171	NM_001303256.3(MORC2):c.317C>T (p.Ser106Leu)	MORC2 (S106L +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy	GLikely pathogenic
Select item 1709145	NM_001303256.3(MORC2):c.187A>G (p.Met63Val)	MORC2 (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy	GUncertain significance
Select item 1708087	NM_024528.4(NKAP):c.370G>A (p.Glu124Lys)	NKAP (E124K)	Single nucleotide variant (missense variant)	Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy	GUncertain significance
Select item 1708086	NM_001303256.3(MORC2):c.733G>A (p.Ala245Thr)	MORC2 (A183T +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy +1 more	GUncertain significance
Select item 1701728	NM_001303256.3(MORC2):c.3094G>T (p.Asp1032Tyr)	MORC2 (D1029Y +2 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy	GUncertain significance
Select item 1699240	NM_001303256.3(MORC2):c.259T>C (p.Ser87Pro)	MORC2 (S25P +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy	GPathogenic
Select item 1679796	NM_001303256.3(MORC2):c.2188T>A (p.Ser730Thr)	MORC2 (S668T +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Z +1 more	GUncertain significance
Select item 1676254	NM_001303256.3(MORC2):c.1316T>G (p.Leu439Arg)	MORC2 (L377R +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy	GUncertain significance
Select item 1526341	NM_001303256.3(MORC2):c.2193+15C>T	MORC2	Single nucleotide variant (intron variant)	Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy +2 more	GBenign/Likely benign
Select item 1356161	NM_001303256.3(MORC2):c.1462C>T (p.Arg488Trp)	MORC2 (R488W +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Z +1 more	GUncertain significance
Select item 1285570	NM_001303256.3(MORC2):c.395G>A (p.Arg132His)	MORC2 (R132H +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy	GLikely pathogenic
Select item 1264281	NM_001303256.3(MORC2):c.158-12del	MORC2	Deletion (intron variant)	Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy +2 more	GBenign
Select item 1205232	NM_001303256.3(MORC2):c.2841+20C>T	MORC2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2Z +2 more	GBenign/Likely benign
Select item 1174103	NM_001303256.3(MORC2):c.1238T>C (p.Val413Ala)	MORC2 (V351A +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy	GLikely pathogenic
Select item 1168330	NM_001303256.3(MORC2):c.378C>G (p.Thr126=)	MORC2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1168329	NM_001303256.3(MORC2):c.1437A>G (p.Pro479=)	MORC2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1164340	NM_001303256.3(MORC2):c.96C>T (p.Ala32=)	MORC2	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease axonal type 2Z +2 more	GBenign
Select item 994215	NM_001303256.3(MORC2):c.699-20T>C	MORC2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 993973	NM_001303256.3(MORC2):c.226+18T>C	MORC2	Single nucleotide variant (intron variant)	Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy +2 more	GBenign/Likely benign
Select item 992666	NM_001303256.3(MORC2):c.1292C>T (p.Ala431Val)	MORC2 (A369V +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Z	GLikely pathogenic
Select item 992297	NM_001303256.3(MORC2):c.328C>T (p.Arg110Cys)	MORC2 (R110C +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy +2 more	GConflicting classifications of pathogenicity
Select item 985095	NM_001303256.3(MORC2):c.1265A>G (p.Glu422Gly)	MORC2 (E360G +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy +1 more	GConflicting classifications of pathogenicity
Select item 804228	NM_001303256.3(MORC2):c.71C>T (p.Thr24Ile)	MORC2 (T24I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GLikely pathogenic
Select item 804164	NM_001303256.3(MORC2):c.79G>A (p.Glu27Lys)	MORC2 (E27K)	Single nucleotide variant (missense variant +1 more)	MORC2-related neurodevelopmental disorders +6 more	GPathogenic
Select item 772516	NM_001303256.3(MORC2):c.3030+9G>C	MORC2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 772359	NM_001303256.3(MORC2):c.894A>G (p.Val298=)	MORC2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 766527	NM_001303256.3(MORC2):c.63A>G (p.Thr21=)	MORC2	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease axonal type 2Z +2 more	GBenign/Likely benign
Select item 574569	NM_001303256.3(MORC2):c.1729G>T (p.Ala577Ser)	MORC2 (A515S +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy +1 more	GUncertain significance
Select item 546916	NM_001303256.3(MORC2):c.286C>G (p.Gln96Glu)	MORC2 (Q96E +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Z +2 more	GUncertain significance
Select item 475601	NM_001303256.3(MORC2):c.966A>T (p.Gly322=)	MORC2	Single nucleotide variant (synonymous variant)	Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy +2 more	GBenign
Select item 475598	NM_001303256.3(MORC2):c.234T>G (p.Ala78=)	MORC2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 475597	NM_001303256.3(MORC2):c.626A>G (p.Asn209Ser)	MORC2 (N147S +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Z +1 more	GBenign/Likely benign
Select item 475587	NM_001303256.3(MORC2):c.2747+5_2747+6del	MORC2	Deletion (intron variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 475582	NM_001303256.3(MORC2):c.2469G>C (p.Arg823=)	MORC2	Single nucleotide variant (synonymous variant)	Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy +2 more	GBenign/Likely benign
Select item 475579	NM_001303256.3(MORC2):c.2238A>G (p.Glu746=)	MORC2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2Z +2 more	GBenign/Likely benign
Select item 475578	NM_001303256.3(MORC2):c.2044G>A (p.Val682Ile)	MORC2 (V682I +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy +3 more	GBenign/Likely benign
Select item 475576	NM_001303256.3(MORC2):c.1768C>T (p.Leu590=)	MORC2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2Z +2 more	GBenign/Likely benign
Select item 475575	NM_001303256.3(MORC2):c.1737+4C>T	MORC2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2Z +2 more	GBenign/Likely benign
Select item 475574	NM_001303256.3(MORC2):c.1499-9T>C	MORC2	Single nucleotide variant (intron variant)	Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy +2 more	GBenign
Select item 422103	NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys)	MORC2 (R132C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Z +6 more	GConflicting classifications of pathogenicity
Select item 218307	NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp)	MORC2 (R252W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Z +3 more	GPathogenic/Likely pathogenic

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Items: 48