ClinVar for MedGen (Select 120512) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1683712	NM_001378183.1(PIEZO2):c.8120C>T (p.Pro2707Leu)	PIEZO2 (P2594L +1 more)	Single nucleotide variant (missense variant)	Distal arthrogryposis	GUncertain significance
Select item 1679362	NM_002470.4(MYH3):c.850_851del (p.Tyr284fs)	MYH3 (Y284fs)	Deletion (frameshift variant)	Distal arthrogryposis	GLikely pathogenic
Select item 1679316	NM_002470.4(MYH3):c.3912G>T (p.Arg1304Ser)	MYH3 (R1304S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1441918	NM_002470.4(MYH3):c.3448C>T (p.Arg1150Trp)	MYH3 (R1150W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 995417	NM_002470.4(MYH3):c.2512A>C (p.Lys838Gln)	MYH3 (K838Q)	Single nucleotide variant (missense variant)	Distal arthrogryposis	GLikely pathogenic
Select item 916688	NM_013292.5(MYL11):c.98C>T (p.Ala33Val)	MYL11 (A33V)	Single nucleotide variant (missense variant)	Distal arthrogryposis +1 more	GPathogenic/Likely pathogenic
Select item 916687	NM_013292.5(MYL11):c.487G>A (p.Gly163Ser)	LOC112441444, MYL11 (G163S)	Single nucleotide variant (missense variant)	Distal arthrogryposis +1 more	GPathogenic/Likely pathogenic
Select item 916686	NM_013292.5(MYL11):c.469T>C (p.Cys157Arg)	LOC112441444, MYL11 (C157R)	Single nucleotide variant (missense variant)	Distal arthrogryposis +1 more	GPathogenic/Likely pathogenic
Select item 916685	NM_013292.5(MYL11):c.470G>T (p.Cys157Phe)	LOC112441444, MYL11 (C157F)	Single nucleotide variant (missense variant)	Distal arthrogryposis +1 more	GPathogenic/Likely pathogenic
Select item 598989	NM_206933.4(USH2A):c.5003G>T (p.Gly1668Val)	USH2A, USH2A-AS2 (G1668V)	Single nucleotide variant (missense variant)	Abnormal upper limb bone morphology +15 more	GUncertain significance
Select item 598988	NM_002472.3(MYH8):c.5743A>G (p.Ile1915Val)	MYHAS, MYH8 (I1915V)	Single nucleotide variant (missense variant)	Cognitive impairment +12 more	GUncertain significance
Select item 560516	NM_206933.2(USH2A):c.[2299del;4714C>T]	USH2A (E767fs +1 more)	Deletion (frameshift variant +1 more)	Usher syndrome type 2A	GPathogenic
Select item 523451	NM_002465.4(MYBPC1):c.1678G>C (p.Val560Leu)	MYBPC1 (V560L +6 more)	Single nucleotide variant (missense variant)	Distal arthrogryposis	GLikely pathogenic
Select item 523379	NM_000540.3(RYR1):c.9850T>C (p.Trp3284Arg)	RYR1 (W3284R)	Single nucleotide variant (missense variant)	Distal arthrogryposis	GLikely pathogenic
Select item 523378	NM_000540.3(RYR1):c.1990G>C (p.Glu664Gln)	RYR1 (E664Q)	Single nucleotide variant (missense variant)	Distal arthrogryposis	GLikely pathogenic
Select item 487514	NM_001031710.3(KLHL7):c.618+1G>A	KLHL7	Single nucleotide variant (splice donor variant)	Distal arthrogryposis +1 more	GLikely pathogenic
Select item 306755	NM_002465.4(MYBPC1):c.*266dup	MYBPC1	Duplication (3 prime UTR variant)	Distal arthrogryposis	GUncertain significance
Select item 306754	NM_002465.4(MYBPC1):c.*246dup	MYBPC1	Duplication (3 prime UTR variant)	Distal arthrogryposis	GUncertain significance
Select item 306717	NM_002465.4(MYBPC1):c.122C>T (p.Pro41Leu)	MYBPC1 (P41L +1 more)	Single nucleotide variant (missense variant +1 more)	Distal arthrogryposis	GLikely benign
Select item 306714	NM_002465.4(MYBPC1):c.51_56del (p.Pro18_Pro19del)	MYBPC1	Deletion (inframe_deletion +1 more)	Distal arthrogryposis	GUncertain significance
Select item 252670	NM_006757.4(TNNT3):c.667C>T (p.Arg223Cys)	TNNT3 (R223C +8 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 235839	NM_001378183.1(PIEZO2):c.8514AGA[2] (p.Glu2840del)	PIEZO2 (E2727del +1 more)	Microsatellite (inframe_deletion)	Distal arthrogryposis +2 more	GPathogenic
Select item 12436	NM_003282.4(TNNI2):c.466C>T (p.Arg156Ter)	TNNI2 (R156*)	Single nucleotide variant (nonsense)	Distal arthrogryposis type 2B1 +5 more	GPathogenic
Select item 2351	NM_206933.4(USH2A):c.2299del (p.Glu767fs)	USH2A (E767fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +22 more	GConflicting classifications of pathogenicity

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Items: 24