C1535926[trait identifier] AND "Broad Center for Mendelian Genomics, B - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 208722	NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)	GNB1 (I80T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +7 more	GPathogenic/Likely pathogenic
Select item 440915	NM_015836.4(WARS2):c.37T>G (p.Trp13Gly)	LOC129931299, WARS2 +1 more (W13G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 3061811	NM_001252102.2(KIF21B):c.1061T>C (p.Phe354Ser)	KIF21B (F354S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 3061818	NM_207312.3(TUBA3E):c.1277C>A (p.Ala426Glu)	MZT2B, TUBA3E (A426E)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 224144	NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs)	LOC129935026, TBR1 (T532fs)	Microsatellite (frameshift variant)	Severe global developmental delay +12 more	GPathogenic/Likely pathogenic
Select item 2578020	NM_012290.5(TLK1):c.1435C>G (p.Gln479Glu)	TLK1 (Q383E +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 265201	NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp)	ITPR1 (R269W)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 431106	NM_015021.3(ZNF292):c.3066_3069del (p.Glu1022fs)	ZNF292 (E882fs +1 more)	Deletion (frameshift variant)	Intellectual disability +1 more	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	AGAP3, AGK +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	DYNC2I1, EN2 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	DMTN, DOK2 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2579176	GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3	CCN3, CCN4 +558 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 691560	NM_032536.4(NTNG2):c.446T>C (p.Met149Thr)	NTNG2 (M149T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 691557	NM_032536.4(NTNG2):c.1076C>G (p.Ser359Cys)	NTNG2 (S359C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 3061809	NM_017588.3(WDR5):c.354+2dup	WDR5	Duplication (splice donor variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 2412716	NM_001204077.2(UBE4A):c.1214_1215del (p.Asn405fs)	UBE4A (N405fs +1 more)	Deletion (frameshift variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2578021	NM_001354969.2(MDM1):c.1227dup (p.Lys410Ter)	MDM1 (K120* +5 more)	Duplication (nonsense)	Neurodevelopmental disorder +1 more	GUncertain significance
Select item 2579167	GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1	MIR4538, MIR4539 +397 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 3061810	NM_006035.4(CDC42BPB):c.4471A>G (p.Thr1491Ala)	CDC42BPB (T1465A +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 190122	NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs)	MAGEL2 (Q666fs)	Duplication (frameshift variant)	Schaaf-Yang syndrome +5 more	GPathogenic
Select item 2579288	GRCh38/hg38 20q13.33(chr20:62632017-63794804)x1	ARFGAP1, ARFRP1 +165 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 3051	NM_000487.6(ARSA):c.465+1G>A	ARSA	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder +5 more	GPathogenic

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Items: 25