LOC101929372[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59275	GRCh38/hg38 22q11.1-11.21(chr22:11121452-18167952)x3	CECR7, GAB4 +116 more	Copy number gain	See cases	GPathogenic
Select item 152141	GRCh38/hg38 22p11.2-q11.1(chr22:16367190-18178957)x4	LOC130066920, LOC130066917 +112 more	Copy number gain	See cases	GPathogenic
Select item 57553	GRCh38/hg38 22q11.1-11.21(chr22:16538125-20363937)x1	ADA2, ARVCF +234 more	Copy number loss	See cases	GPathogenic
Select item 58170	GRCh38/hg38 22q11.1-11.21(chr22:16578056-18134332)x3	ADA2, CECR7 +107 more	Copy number gain	See cases	GPathogenic
Select item 2499656	GRCh38/hg38 22q11.1-11.21(chr22:16804110-18162024)	ADA2, ATP6V1E1 +105 more	Copy number gain	Anomalous pulmonary venous return	GPathogenic
Select item 154503	GRCh38/hg38 22q11.1-11.21(chr22:16916608-18179006)x4	ADA2, ATP6V1E1 +105 more	Copy number gain	See cases	GPathogenic
Select item 154375	GRCh38/hg38 22q11.1-11.21(chr22:16916608-18997006)x4	ADA2, ATP6V1E1 +121 more	Copy number gain	See cases	GPathogenic
Select item 144304	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x1	ADA2, ARVCF +227 more	Copy number loss	See cases	GPathogenic
Select item 144303	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x3	ADA2, ARVCF +227 more	Copy number gain	See cases	GPathogenic
Select item 144200	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20343532)x3	LINC01664, LINC02891 +226 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 59279	GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3	LOC130067034, LOC130067035 +535 more	Copy number gain	See cases	GPathogenic
Select item 57427	GRCh38/hg38 22q11.1-11.21(chr22:16916608-18718532)x3	ADA2, ATP6V1E1 +114 more	Copy number gain	See cases	GPathogenic
Select item 57203	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x1	ADA2, ARVCF +225 more	Copy number loss	See cases	GPathogenic
Select item 57202	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x3	ADA2, ARVCF +225 more	Copy number gain	See cases	GPathogenic
Select item 57029	GRCh38/hg38 22q11.1-11.21(chr22:16916608-21151128)x3	LOC132090637, LOC132090638 +292 more	Copy number gain	See cases	GPathogenic
Select item 150808	GRCh38/hg38 22q11.1-11.21(chr22:16916743-18145439)x3	ADA2, ATP6V1E1 +101 more	Copy number gain	See cases	GPathogenic
Select item 149666	GRCh38/hg38 22q11.1-11.21(chr22:16916743-18718546)x3	ADA2, ATP6V1E1 +114 more	Copy number gain	See cases	GPathogenic
Select item 149401	GRCh38/hg38 22q11.1-11.21(chr22:16916743-18178991)x3	ADA2, ATP6V1E1 +105 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 144589	GRCh38/hg38 22q11.1-11.21(chr22:16916743-19597367)x3	ADA2, ATP6V1E1 +151 more	Copy number gain	See cases	GPathogenic
Select item 2338557	NM_031481.3(SLC25A18):c.122G>A (p.Gly41Glu)	LOC101929372, SLC25A18 (G41E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213224	NM_031481.3(SLC25A18):c.187G>T (p.Gly63Cys)	LOC101929372, SLC25A18 (G63C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3319196	NM_031481.3(SLC25A18):c.237G>T (p.Lys79Asn)	LOC101929372, SLC25A18 (K79N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381856	NM_031481.3(SLC25A18):c.268C>T (p.Arg90Trp)	LOC101929372, SLC25A18 (R90W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212229	NM_031481.3(SLC25A18):c.272G>A (p.Arg91Gln)	LOC101929372, SLC25A18 (R91Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3163601	NM_031481.3(SLC25A18):c.299G>A (p.Arg100Gln)	LOC101929372, SLC25A18 (R100Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298359	NM_031481.3(SLC25A18):c.312G>A (p.Met104Ile)	LOC101929372, SLC25A18 (M104I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163602	NM_031481.3(SLC25A18):c.325G>A (p.Gly109Arg)	LOC101929372, SLC25A18 (G109R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163603	NM_031481.3(SLC25A18):c.376C>T (p.Leu126Phe)	LOC101929372, SLC25A18 (L126F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163604	NM_031481.3(SLC25A18):c.403C>T (p.Arg135Cys)	LOC101929372, SLC25A18 (R135C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220559	NM_031481.3(SLC25A18):c.412G>A (p.Val138Ile)	LOC101929372, SLC25A18 (V138I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406846	NM_031481.3(SLC25A18):c.418C>T (p.His140Tyr)	LOC101929372, SLC25A18 (H140Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331440	NM_031481.3(SLC25A18):c.428C>T (p.Ser143Leu)	LOC101929372, SLC25A18 (S143L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289930	NM_031481.3(SLC25A18):c.470C>T (p.Ser157Leu)	LOC101929372, SLC25A18 (S157L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253776	NM_031481.3(SLC25A18):c.479C>T (p.Thr160Ile)	LOC101929372, SLC25A18 (T160I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350368	NM_031481.3(SLC25A18):c.523C>T (p.Arg175Cys)	LOC101929372, SLC25A18 (R175C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386712	NM_031481.3(SLC25A18):c.583C>T (p.Pro195Ser)	LOC101929372, SLC25A18 (P195S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2349566	NM_031481.3(SLC25A18):c.646G>A (p.Ala216Thr)	LOC101929372, SLC25A18 (A216T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2601833	NM_031481.3(SLC25A18):c.655G>C (p.Ala219Pro)	LOC101929372, SLC25A18 (A219P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2284388	NM_031481.3(SLC25A18):c.656C>T (p.Ala219Val)	LOC101929372, SLC25A18 (A219V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3163606	NM_031481.3(SLC25A18):c.658T>C (p.Ser220Pro)	LOC101929372, SLC25A18 (S220P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2546324	NM_031481.3(SLC25A18):c.662T>G (p.Phe221Cys)	LOC101929372, SLC25A18 (F221C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3163607	NM_031481.3(SLC25A18):c.665C>T (p.Ala222Val)	LOC101929372, SLC25A18 (A222V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3163608	NM_031481.3(SLC25A18):c.695G>T (p.Gly232Val)	LOC101929372, SLC25A18 (G232V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3163609	NM_031481.3(SLC25A18):c.712G>A (p.Ala238Thr)	LOC101929372, SLC25A18 (A238T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance

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Items: 46