C5231391[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 523488	NM_006015.6(ARID1A):c.5090A>G (p.Asp1697Gly)	ARID1A (D1697G +1 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 523448	NM_002016.2(FLG):c.544A>T (p.Lys182Ter)	FLG, FLG-AS1 (K182*)	Single nucleotide variant (nonsense)	Microcephaly +7 more	GPathogenic
Select item 48425	NM_206933.4(USH2A):c.14027A>G (p.Gln4676Arg)	USH2A (Q4676R)	Single nucleotide variant (missense variant)	Congenital sensorineural hearing impairment +9 more	GConflicting classifications of pathogenicity
Select item 48481	NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn)	USH2A (D656N)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely benign FDA Recognized database
Select item 374085	NM_016955.4(SEPSECS):c.388+5G>A	SEPSECS	Single nucleotide variant (intron variant)	Congenital cerebellar hypoplasia +7 more	GLikely pathogenic
Select item 204593	NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)	KIAA0586 (R131fs +3 more)	Deletion (frameshift variant)	Short-rib thoracic dysplasia 14 with polydactyly +6 more	GPathogenic/Likely pathogenic
Select item 374086	NM_001376.5(DYNC1H1):c.7640C>T (p.Pro2547Leu)	DYNC1H1 (P2547L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O +10 more	GConflicting classifications of pathogenicity
Select item 2120	NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)	TSEN54 (A307S)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 4 +14 more	GPathogenic/Likely pathogenic
Select item 523408	NM_001123385.2(BCOR):c.4693A>G (p.Thr1565Ala)	BCOR (T1531A +2 more)	Single nucleotide variant (missense variant)	Congenital cerebellar hypoplasia +4 more	GUncertain significance
Select item 523464	NM_001367721.1(CASK):c.2236+1delinsAT	CASK	Indel (splice donor variant)	Hypertonia +4 more	GLikely pathogenic
Select item 374192	NM_002547.3(OPHN1):c.746T>C (p.Leu249Pro)	OPHN1 (L249P)	Single nucleotide variant (missense variant)	Congenital cerebellar hypoplasia +5 more	GLikely pathogenic
Select item 523297	GRCh37/hg19 Xp22.13-22.12(chrX:19030055-19591281)	SH3KBP1, ADGRG2 +2 more	Copy number gain	Microcephaly +4 more	GUncertain significance