ClinVar for MedGen (Select 1798652) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3069113	NM_016030.6(TRAPPC12):c.979C>T (p.Gln327Ter)	TRAPPC12 (Q327*)	Single nucleotide variant (nonsense)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	GPathogenic
Select item 3068100	NM_016030.6(TRAPPC12):c.664G>T (p.Asp222Tyr)	TRAPPC12 (D222Y)	Single nucleotide variant (missense variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	GUncertain significance
Select item 3065808	NM_016030.6(TRAPPC12):c.249_268del (p.Asp84fs)	TRAPPC12 (D84fs)	Deletion (frameshift variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	GLikely pathogenic
Select item 2692483	NM_016030.6(TRAPPC12):c.1164+1G>T	TRAPPC12	Single nucleotide variant (splice donor variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	GLikely pathogenic
Select item 2585068	NM_016030.6(TRAPPC12):c.195_196del (p.Met66fs)	TRAPPC12 (M66fs)	Microsatellite (frameshift variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	GLikely pathogenic
Select item 2585067	NM_016030.6(TRAPPC12):c.1678-2A>G	TRAPPC12	Single nucleotide variant (splice acceptor variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	GLikely pathogenic
Select item 2584443	NM_016030.6(TRAPPC12):c.56del (p.Pro19fs)	TRAPPC12 (P19fs)	Deletion (frameshift variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	GLikely pathogenic
Select item 2507397	NM_016030.6(TRAPPC12):c.1047+72_1047+73delinsCA	TRAPPC12	Indel (intron variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	GBenign
Select item 2437252	NM_016030.6(TRAPPC12):c.2071G>C (p.Glu691Gln)	TRAPPC12, TRAPPC12-AS1 (E691Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	GUncertain significance
Select item 2437251	NM_016030.6(TRAPPC12):c.250_258dup (p.Gly86_Arg87insAspLeuGly)	TRAPPC12	Duplication (inframe_insertion)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	GUncertain significance
Select item 2437250	NM_016030.6(TRAPPC12):c.1693G>A (p.Val565Met)	TRAPPC12 (V565M)	Single nucleotide variant (missense variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	GUncertain significance
Select item 1805705	NM_016030.6(TRAPPC12):c.361G>A (p.Glu121Lys)	TRAPPC12 (E121K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1710180	NM_016030.6(TRAPPC12):c.1677+5G>A	TRAPPC12	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 1699141	NM_016030.6(TRAPPC12):c.1778T>G (p.Ile593Ser)	TRAPPC12 (I593S)	Single nucleotide variant (missense variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	GUncertain significance
Select item 1679937	NM_016030.6(TRAPPC12):c.1776+16C>A	TRAPPC12	Single nucleotide variant (intron variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	GPathogenic
Select item 1675310	NM_016030.6(TRAPPC12):c.1965G>A (p.Val655=)	TRAPPC12-AS1, TRAPPC12	Single nucleotide variant (synonymous variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	GUncertain significance
Select item 1551837	NM_016030.6(TRAPPC12):c.1417+16T>C	TRAPPC12	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1342719	NM_016030.6(TRAPPC12):c.1604C>T (p.Ala535Val)	TRAPPC12 (A535V)	Single nucleotide variant (missense variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	GUncertain significance
Select item 1342264	NM_016030.6(TRAPPC12):c.2181C>T (p.Phe727=)	TRAPPC12, TRAPPC12-AS1	Single nucleotide variant (synonymous variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome +2 more	GBenign
Select item 1339189	NM_001144869.3(LIPT2):c.326G>A (p.Gly109Asp)	LIPT2 (G109D)	Single nucleotide variant (missense variant +1 more)	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities +2 more	GUncertain significance
Select item 1339187	NM_016030.6(TRAPPC12):c.2090T>C (p.Leu697Pro)	TRAPPC12, TRAPPC12-AS1 (L697P)	Single nucleotide variant (missense variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	GUncertain significance
Select item 1339142	NM_016030.6(TRAPPC12):c.1603+5G>C	TRAPPC12	Single nucleotide variant (intron variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome +1 more	GUncertain significance
Select item 1288076	NM_016030.6(TRAPPC12):c.1773G>C (p.Leu591=)	TRAPPC12	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1282559	NM_016030.6(TRAPPC12):c.681T>C (p.Phe227=)	TRAPPC12	Single nucleotide variant (synonymous variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome +2 more	GBenign
Select item 1273981	NM_016030.6(TRAPPC12):c.432C>T (p.Ala144=)	TRAPPC12	Single nucleotide variant (synonymous variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome +2 more	GBenign
Select item 1252377	NM_016030.6(TRAPPC12):c.901A>G (p.Ser301Gly)	TRAPPC12 (S301G)	Single nucleotide variant (missense variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome +2 more	GBenign
Select item 1065828	NM_016030.6(TRAPPC12):c.1892T>G (p.Leu631Arg)	TRAPPC12, TRAPPC12-AS1 (L631R)	Single nucleotide variant (missense variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	GUncertain significance
Select item 1033387	NM_016030.6(TRAPPC12):c.641C>T (p.Ala214Val)	TRAPPC12 (A214V)	Single nucleotide variant (missense variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	GUncertain significance
Select item 1029570	NM_016030.6(TRAPPC12):c.496C>A (p.Arg166Ser)	TRAPPC12 (R166S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1029569	NM_016030.6(TRAPPC12):c.1604-1G>T	TRAPPC12	Single nucleotide variant (splice acceptor variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	GLikely pathogenic
Select item 1029568	NM_016030.6(TRAPPC12):c.1597A>G (p.Arg533Gly)	TRAPPC12 (R533G)	Single nucleotide variant (missense variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	GUncertain significance
Select item 438738	NM_016030.6(TRAPPC12):c.145del (p.Glu49fs)	TRAPPC12 (E49fs)	Deletion (frameshift variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	GLikely pathogenic
Select item 430823	NM_016030.6(TRAPPC12):c.1880C>T (p.Ala627Val)	TRAPPC12, TRAPPC12-AS1 (A627V)	Single nucleotide variant (missense variant)	Progressive childhood encephalopathy +1 more	GPathogenic/Likely pathogenic
Select item 430822	NM_016030.6(TRAPPC12):c.360dup (p.Glu121fs)	TRAPPC12 (E121fs)	Duplication (frameshift variant)	Progressive childhood encephalopathy +1 more	GPathogenic/Likely pathogenic

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Items: 34