C0333068[trait identifier] AND "Lupski Lab, Baylor-Hopkins CMG, Baylor - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 816819	NM_001393986.1(PRDM2):c.4283_4295del (p.Leu1428fs)	PRDM2 (L1227fs +1 more)	Deletion (frameshift variant +1 more)	Flexion contracture	GLikely pathogenic
Select item 816846	NM_152372.4(MYOM3):c.3534+56G>A	MYOM3	Single nucleotide variant (intron variant)	Flexion contracture	GLikely benign
Select item 816847	NM_152372.4(MYOM3):c.1684G>A (p.Val562Ile)	MYOM3 (V562I)	Single nucleotide variant (missense variant)	Flexion contracture	GUncertain significance
Select item 816798	NM_177402.5(SYT2):c.1081G>C (p.Asp361His)	SYT2 (D361H)	Single nucleotide variant (missense variant)	Flexion contracture	GUncertain significance
Select item 816794	NM_017727.5(TMEM214):c.899G>A (p.Arg300Gln)	TMEM214 (R255Q +1 more)	Single nucleotide variant (missense variant)	Flexion contracture	GUncertain significance
Select item 816788	NM_001009921.3(VPS8):c.3130G>A (p.Val1044Ile)	VPS8 (V1031I +4 more)	Single nucleotide variant (missense variant +1 more)	Flexion contracture	GUncertain significance
Select item 816793	NM_001004356.3(FGFRL1):c.124C>T (p.Arg42Trp)	FGFRL1 (R42W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 816807	NM_005245.4(FAT1):c.6026A>G (p.Asn2009Ser)	FAT1 (N2009S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 816810	NM_001031711.3(ERGIC1):c.782G>A (p.Gly261Asp)	ERGIC1 (G261D)	Single nucleotide variant (missense variant)	Flexion contracture	GLikely pathogenic
Select item 816805	NM_005523.6(HOXA11):c.304G>A (p.Val102Met)	HOXA11, LOC107126281 (V102M)	Single nucleotide variant (missense variant)	Flexion contracture	GUncertain significance
Select item 816838	NM_003970.4(MYOM2):c.621C>G (p.Ser207Arg)	MYOM2 (S207R)	Single nucleotide variant (missense variant)	Flexion contracture	GUncertain significance
Select item 816824	NM_003970.4(MYOM2):c.2797C>T (p.Gln933Ter)	LOC126860282, MYOM2 (Q933*)	Single nucleotide variant (nonsense)	Flexion contracture	GUncertain significance
Select item 816790	NM_015310.4(PSD3):c.437T>C (p.Ile146Thr)	PSD3 (I113T +1 more)	Single nucleotide variant (missense variant)	Flexion contracture	GUncertain significance
Select item 816839	NM_000113.3(TOR1A):c.506T>C (p.Phe169Ser)	TOR1A (F169S)	Single nucleotide variant (missense variant)	Early-onset generalized limb-onset dystonia	GUncertain significance
Select item 816822	NM_153810.5(CACUL1):c.910_911del (p.Leu304fs)	CACUL1 (L304fs)	Microsatellite (frameshift variant)	Flexion contracture	GLikely pathogenic
Select item 816803	NM_003297.4(NR2C1):c.544+1G>C	NR2C1	Single nucleotide variant (splice donor variant)	Flexion contracture	GLikely pathogenic
Select item 816840	NM_003239.5(TGFB3):c.171del (p.Glu58fs)	TGFB3 (E58fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 816850	NM_001036.6(RYR3):c.2000A>G (p.Asp667Gly)	RYR3 (D667G)	Single nucleotide variant (missense variant)	Congenital myopathy 20 +1 more	GConflicting classifications of pathogenicity
Select item 461891	NM_001036.6(RYR3):c.2486G>A (p.Arg829His)	RYR3 (R829H)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 655096	NM_001036.6(RYR3):c.8939G>T (p.Arg2980Leu)	RYR3 (R2980L)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GUncertain significance
Select item 653564	NM_001036.6(RYR3):c.11164+1G>A	RYR3	Single nucleotide variant (splice donor variant)	Epileptic encephalopathy	GUncertain significance
Select item 590978	NM_006901.4(MYO9A):c.6845G>A (p.Gly2282Glu)	MYO9A (G2282E)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 24, presynaptic +1 more	GConflicting classifications of pathogenicity
Select item 590979	NM_006901.4(MYO9A):c.608A>G (p.Tyr203Cys)	MYO9A (Y203C)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 24, presynaptic +1 more	GUncertain significance
Select item 816800	NM_002018.4(FLII):c.2755C>T (p.Arg919Trp)	FLII (R864W +2 more)	Single nucleotide variant (missense variant)	Flexion contracture	GUncertain significance
Select item 816829	NM_019112.4(ABCA7):c.3076C>T (p.Arg1026Cys)	ABCA7 (R1026C)	Single nucleotide variant (missense variant)	Flexion contracture	GUncertain significance
Select item 816830	NM_019112.4(ABCA7):c.4045C>T (p.Arg1349Trp)	ABCA7 (R1349W)	Single nucleotide variant (missense variant)	Flexion contracture	GLikely benign
Select item 816796	NM_019112.4(ABCA7):c.5092C>T (p.Arg1698Trp)	ABCA7 (R1698W)	Single nucleotide variant (missense variant)	Flexion contracture	GUncertain significance
Select item 816791	NM_032447.5(FBN3):c.8357G>A (p.Gly2786Asp)	FBN3 (G2786D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 816792	NM_032447.5(FBN3):c.1883C>T (p.Ser628Phe)	FBN3 (S628F)	Single nucleotide variant (missense variant)	Flexion contracture	GLikely benign
Select item 816809	NM_020971.3(SPTBN4):c.6433G>A (p.Ala2145Thr)	SPTBN4 (A2145T)	Single nucleotide variant (missense variant)	Flexion contracture	GUncertain significance
Select item 816858	NM_004533.4(MYBPC2):c.707C>T (p.Thr236Ile)	MYBPC2 (T236I)	Single nucleotide variant (missense variant)	Flexion contracture	GUncertain significance
Select item 816859	NM_004533.4(MYBPC2):c.764G>C (p.Ser255Thr)	MYBPC2 (S255T)	Single nucleotide variant (missense variant)	Flexion contracture	GUncertain significance
Select item 816820	NM_004533.4(MYBPC2):c.920T>C (p.Val307Ala)	MYBPC2 (V307A)	Single nucleotide variant (missense variant)	Flexion contracture	GUncertain significance
Select item 816821	NM_004533.4(MYBPC2):c.3194C>T (p.Ala1065Val)	MYBPC2 (A1065V)	Single nucleotide variant (missense variant)	Flexion contracture	GUncertain significance
Select item 816786	NM_020884.7(MYH7B):c.3824G>A (p.Arg1275Gln)	MYH7B (R1275Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 816815	NM_004147.4(DRG1):c.118C>T (p.Arg40Ter)	DRG1 (R40*)	Single nucleotide variant (nonsense)	Flexion contracture	GLikely pathogenic
Select item 816802	NM_021242.6(MID1IP1):c.297C>G (p.Asn99Lys)	MID1IP1 (N99K)	Single nucleotide variant (missense variant)	Flexion contracture	GUncertain significance

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Items: 37