C2267233[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 374077	NM_000302.4(PLOD1):c.1562G>A (p.Trp521Ter)	PLOD1 (W521* +1 more)	Single nucleotide variant (nonsense)	Narrow chest +18 more	GPathogenic
Select item 523237	GRCh37/hg19 1p36.22(chr1:12019879-12028775)	PLOD1	Copy number gain	Severe global developmental delay +7 more	GPathogenic
Select item 137622	NM_022168.4(IFIH1):c.2336G>A (p.Arg779His)	IFIH1 (R779H)	Single nucleotide variant (missense variant)	not provided +10 more	GPathogenic/Likely pathogenic
Select item 523276	GRCh37/hg19 2p15(chr2:61576332-62775261)	B3GNT2, CCT4 +5 more	Copy number gain	Dolichocephaly +3 more	GUncertain significance
Select item 374179	NM_001374828.1(ARID1B):c.1861C>T (p.Gln621Ter)	ARID1B (Q538* +1 more)	Single nucleotide variant (nonsense)	not provided +7 more	GPathogenic
Select item 523291	GRCh37/hg19 8q23.1(chr8:109990022-110168343)	TRHR	Copy number loss	Intellectual disability, mild +8 more	GUncertain significance
Select item 523360	NM_000352.6(ABCC8):c.1024G>T (p.Gly342Trp)	ABCC8 (G342W +1 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +13 more	GConflicting classifications of pathogenicity
Select item 374155	NM_004667.6(HERC2):c.6976del (p.Ile2325_Leu2326insTer)	HERC2	Deletion (nonsense)	Optic nerve hypoplasia +7 more	GPathogenic
Select item 523250	GRCh37/hg19 15q13.2-13.3(chr15:30366065-32899558)	ARHGAP11B, CHRFAM7A +11 more	Copy number gain	Short attention span +12 more	GPathogenic
Select item 523255	GRCh37/hg19 16p11.2(chr16:29656684-30197341)	ASPHD1, C16orf54 +25 more	Copy number gain	Intellectual disability, mild +8 more	GLikely pathogenic
Select item 523275	GRCh37/hg19 22q11.21(chr22:21081260-21431174)	AIFM3, SNAP29 +7 more	Copy number gain	Intellectual disability, mild +8 more	GUncertain significance
Select item 523299	GRCh37/hg19 Xq27.2(chrX:140928436-141157267)	MAGEC1, MAGEC3	Copy number gain	Dolichocephaly +3 more	GUncertain significance