C1837658[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 374178	NM_001206744.2(TPO):c.1558C>T (p.His520Tyr)	TPO (H520Y +1 more)	Single nucleotide variant (missense variant)	Deficiency of iodide peroxidase +7 more	GLikely pathogenic
Select item 159398	NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln)	NSD1 (R2017Q +5 more)	Single nucleotide variant (missense variant)	Macrocephaly +16 more	GPathogenic/Likely pathogenic
Select item 523284	GRCh37/hg19 7q11.23(chr7:72772522-74133319)	CLDN3, CLDN4 +23 more	Copy number loss	Decreased body weight +14 more	GPathogenic
Select item 190467	NM_005592.4(MUSK):c.1724T>C (p.Ile575Thr)	MUSK (I575T +3 more)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +5 more	GPathogenic/Likely pathogenic
Select item 374195	NM_005592.4(MUSK):c.2365G>A (p.Gly789Ser)	MUSK (G789S +3 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 195928	NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys)	MYH7 (E1223K)	Single nucleotide variant (missense variant)	Cardiomyopathy +11 more	GConflicting classifications of pathogenicity
Select item 374190	NM_001376.5(DYNC1H1):c.6994C>T (p.Arg2332Cys)	DYNC1H1 (R2332C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GPathogenic/Likely pathogenic
Select item 523257	GRCh37/hg19 17p11.2(chr17:16842163-20217777)	COPS3, DRC3 +47 more	Copy number gain	Delayed gross motor development +3 more	GPathogenic
Select item 523256	GRCh37/hg19 17p11.2(chr17:16782546-20294038)	TRIM16L, MED9 +47 more	Copy number loss	Pes valgus +9 more	GPathogenic
Select item 374168	NM_000540.3(RYR1):c.3535C>T (p.Arg1179Trp)	RYR1 (R1179W)	Single nucleotide variant (missense variant)	Pelvic girdle muscle weakness +8 more	GConflicting classifications of pathogenicity
Select item 374164	NM_000540.3(RYR1):c.7111G>A (p.Glu2371Lys)	RYR1 (E2371K)	Single nucleotide variant (missense variant)	Proximal amyotrophy +6 more	GConflicting classifications of pathogenicity
Select item 133012	NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln)	RYR1 (R3772Q +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely pathogenic FDA Recognized database
Select item 30986	NM_015338.6(ASXL1):c.1210C>T (p.Arg404Ter)	ASXL1 (R404* +1 more)	Single nucleotide variant (nonsense)	dystrophia +14 more	GPathogenic
Select item 41912	NM_001029896.2(WDR45):c.697C>T (p.Arg233Ter)	WDR45 (R234* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +8 more	GPathogenic
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 143406	NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer)	MECP2	Deletion (frameshift variant)	Rett syndrome	GPathogenic FDA Recognized database
Select item 156053	NM_001110792.2(MECP2):c.413+1G>T	MECP2	Single nucleotide variant (splice donor variant)	Rett syndrome +4 more	GPathogenic
Select item 523296	GRCh37/hg19 Xp11.21(chrX:56488503-57276424)	SPIN2A, SPIN2B +2 more	Copy number gain	Cognitive impairment +5 more	GUncertain significance