Related gene-specific medical variations for Gene (Select 51112) - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3371487	NM_016030.6(TRAPPC12):c.2098A>G (p.Met700Val)	TRAPPC12, TRAPPC12-AS1 (M700V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3362200	NM_016030.6(TRAPPC12):c.681T>A (p.Phe227Leu)	TRAPPC12 (F227L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3361852	NM_016030.6(TRAPPC12):c.227_228del (p.Pro76fs)	TRAPPC12 (P76fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3361851	NM_016030.6(TRAPPC12):c.997G>A (p.Val333Met)	TRAPPC12 (V333M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3351747	NM_016030.6(TRAPPC12):c.*5C>T	TRAPPC12, TRAPPC12-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	TRAPPC12-related disorder	GLikely benign
Select item 3328524	NM_016030.6(TRAPPC12):c.2071G>A (p.Glu691Lys)	TRAPPC12, TRAPPC12-AS1 (E691K)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3034939	NM_016030.6(TRAPPC12):c.*3G>C	TRAPPC12, TRAPPC12-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	TRAPPC12-related disorder	GLikely benign
Select item 3026437	NM_016030.6(TRAPPC12):c.2160C>T (p.Ala720=)	TRAPPC12, TRAPPC12-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3016712	NM_016030.6(TRAPPC12):c.2172G>C (p.Gly724=)	TRAPPC12, TRAPPC12-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2964999	NM_016030.6(TRAPPC12):c.1878-16G>A	TRAPPC12, TRAPPC12-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2905589	NM_016030.6(TRAPPC12):c.1966-3T>C	TRAPPC12, TRAPPC12-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2551366	NM_016030.6(TRAPPC12):c.2070C>G (p.His690Gln)	TRAPPC12, TRAPPC12-AS1 (H690Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2529325	NM_016030.6(TRAPPC12):c.2120G>A (p.Arg707Gln)	TRAPPC12, TRAPPC12-AS1 (R707Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2504760	NM_016030.6(TRAPPC12):c.2141C>A (p.Ala714Asp)	TRAPPC12, TRAPPC12-AS1 (A714D)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2503263	NM_016030.6(TRAPPC12):c.2039T>C (p.Met680Thr)	TRAPPC12, TRAPPC12-AS1 (M680T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 2347044	NM_016030.6(TRAPPC12):c.1923G>T (p.Arg641Ser)	TRAPPC12, TRAPPC12-AS1 (R641S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2237466	NM_016030.6(TRAPPC12):c.2093C>A (p.Thr698Asn)	TRAPPC12, TRAPPC12-AS1 (T698N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2205631	NM_016030.6(TRAPPC12):c.2161G>A (p.Gly721Ser)	TRAPPC12, TRAPPC12-AS1 (G721S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2183453	NM_016030.6(TRAPPC12):c.1910C>T (p.Ala637Val)	TRAPPC12, TRAPPC12-AS1 (A637V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2175796	NM_016030.6(TRAPPC12):c.1879G>A (p.Ala627Thr)	TRAPPC12, TRAPPC12-AS1 (A627T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2171241	NM_016030.6(TRAPPC12):c.2000T>C (p.Leu667Pro)	TRAPPC12, TRAPPC12-AS1 (L667P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2105039	NM_016030.6(TRAPPC12):c.1966-9C>T	TRAPPC12, TRAPPC12-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1994886	NM_016030.6(TRAPPC12):c.1886T>C (p.Leu629Pro)	TRAPPC12, TRAPPC12-AS1 (L629P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1944514	NM_016030.6(TRAPPC12):c.1959C>T (p.Asn653=)	TRAPPC12, TRAPPC12-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1937762	NM_016030.6(TRAPPC12):c.1966-16G>A	TRAPPC12, TRAPPC12-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1901366	NM_016030.6(TRAPPC12):c.1965+15C>T	TRAPPC12, TRAPPC12-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1705259	NM_016030.6(TRAPPC12):c.1963G>C (p.Val655Leu)	TRAPPC12, TRAPPC12-AS1 (V655L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
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 1657124	NM_016030.6(TRAPPC12):c.1878-19A>T	TRAPPC12, TRAPPC12-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1639868	NM_016030.6(TRAPPC12):c.1983C>T (p.Ala661=)	TRAPPC12, TRAPPC12-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1600070	NM_016030.6(TRAPPC12):c.2157C>T (p.Val719=)	TRAPPC12, TRAPPC12-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1575530	NM_016030.6(TRAPPC12):c.1965+18C>T	TRAPPC12, TRAPPC12-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1554711	NM_016030.6(TRAPPC12):c.2172G>A (p.Gly724=)	TRAPPC12, TRAPPC12-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1342264	NM_016030.6(TRAPPC12):c.2181C>T (p.Phe727=)	TRAPPC12, TRAPPC12-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 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 1027666	NM_016030.6(TRAPPC12):c.361G>T (p.Glu121Ter)	TRAPPC12 (E121*)	Single nucleotide variant (nonsense)	Severe hydrocephalus	GLikely pathogenic
Select item 808661	NM_016030.6(TRAPPC12):c.1965+4A>G	TRAPPC12, TRAPPC12-AS1	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 688945	GRCh37/hg19 2p25.3(chr2:3385474-3418641)x1	TRAPPC12	Copy number loss	not provided	GPathogenic
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

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Links from Gene

Items: 45