"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "NCAPH2"[ge - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2653398	NM_152299.4(NCAPH2):c.729A>G (p.Pro243=)	NCAPH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653399	NM_005138.3(SCO2):c.790G>A (p.Val264Ile)	NCAPH2, SCO2 (V264I)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 139088	NM_005138.3(SCO2):c.776C>T (p.Ala259Val)	NCAPH2, SCO2 +1 more (A259V)	Single nucleotide variant (3 prime UTR variant +1 more)	Fatal Infantile Cardioencephalomyopathy +4 more	GBenign/Likely benign
Select item 139087	NM_005138.3(SCO2):c.763C>A (p.Arg255=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	Fatal Infantile Cardioencephalomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 378567	NM_005138.3(SCO2):c.537C>G (p.Arg179=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1905868	NM_005138.3(SCO2):c.522T>C (p.Val174=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1541043	NM_005138.3(SCO2):c.516C>T (p.Asp172=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1384299	NM_005138.3(SCO2):c.460G>A (p.Glu154Lys)	NCAPH2, SCO2 (E154K)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 5681	NM_005138.3(SCO2):c.418G>A (p.Glu140Lys)	NCAPH2, SCO2 (E140K)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +4 more	GPathogenic
Select item 1012707	NM_005138.3(SCO2):c.412C>T (p.Pro138Ser)	NCAPH2, SCO2 (P138S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3025219	NM_005138.3(SCO2):c.407T>C (p.Ile136Thr)	NCAPH2, SCO2 (I136T)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1649299	NM_005138.3(SCO2):c.334C>A (p.Arg112=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1012708	NM_005138.3(SCO2):c.300C>T (p.Gly100=)	SCO2, NCAPH2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1701443	NM_005138.3(SCO2):c.296T>G (p.Val99Gly)	NCAPH2, SCO2 (V99G)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2653400	NM_005138.3(SCO2):c.269G>A (p.Arg90Gln)	NCAPH2, SCO2 (R90Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 139083	NM_005138.3(SCO2):c.201C>T (p.Phe67=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 3024623	GRCh37/hg19 22q13.33(chr22:49479980-51304566)x1	ACR, ADM2 +34 more	Copy number loss	not provided	GPathogenic
Select item 3024622	GRCh37/hg19 22q13.32-13.33(chr22:49103529-51220722)x1	ACR, ADM2 +35 more	Copy number loss	not provided	GPathogenic
Select item 2672923	GRCh37/hg19 22q13.2-13.33(chr22:43820992-51218654)x1	ACR, ADM2 +71 more	Copy number loss	not provided	GPathogenic