Related gene-specific medical variations for Gene (Select 22880) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2433783	NM_001303256.3(MORC2):c.1669C>T (p.Gln557Ter)	MORC2 (Q495* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2433782	NM_001303256.3(MORC2):c.2331A>T (p.Ser777=)	MORC2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2433781	NM_001303256.3(MORC2):c.13A>C (p.Asn5His)	MORC2 (N5H)	Single nucleotide variant (missense variant +1 more)	not provided	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 1676373	NM_014941.3(MORC2):c.2194+34G>C	MORC2	Single nucleotide variant	not provided	GLikely benign
Select item 1330695	NM_001303256.3(MORC2):c.1214+18A>G	MORC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1330396	NM_001303256.3(MORC2):c.905-11C>T	MORC2	Single nucleotide variant (intron variant)	not provided	GLikely 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 694963	NM_001303256.3(MORC2):c.158-4A>T	MORC2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 694962	NM_001303256.3(MORC2):c.227-8C>G	MORC2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 694960	NM_001303256.3(MORC2):c.1033G>A (p.Glu345Lys)	MORC2 (E283K +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
Select item 694958	NM_001303256.3(MORC2):c.1229T>G (p.Val410Gly)	MORC2 (V348G +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 694957	NM_001303256.3(MORC2):c.1369+8_1369+9del	MORC2	Deletion (intron variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 694956	NM_001303256.3(MORC2):c.2795del (p.Lys932fs)	MORC2 (K932fs +1 more)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 623987	NM_001303256.3(MORC2):c.1128C>A (p.His376Gln)	MORC2 (H376Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign