ClinVar for MedGen (Select 52635) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 267802	46;XY;t(11;19)(p11.2;p13.3)dn		Translocation	Hypotonia +15 more	GPathogenic
Select item 201799	NM_020433.5(JPH2):c.856A>G (p.Thr286Ala)	JPH2 (T286A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GLikely benign
Select item 191569	NM_201596.3(CACNB2):c.1816C>G (p.Arg606Gly)	CACNB2 (R552G +9 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GBenign
Select item 190577	NM_001148.6(ANK2):c.11119G>A (p.Asp3707Asn)	ANK2 (D1613N +43 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 178232	NM_001267550.2(TTN):c.28741A>G (p.Ile9581Val)	TTN (I8337V +2 more)	Single nucleotide variant (missense variant +1 more)	TTN-related disorder +8 more	GConflicting classifications of pathogenicity
Select item 178221	NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr)	TTN (P10722T +2 more)	Single nucleotide variant (missense variant +1 more)	TTN-related disorder +10 more	GConflicting classifications of pathogenicity
Select item 67568	NM_000891.3(KCNJ2):c.244C>T (p.Arg82Trp)	KCNJ2 (R82W)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +3 more	GPathogenic
Select item 47814	NM_001267550.2(TTN):c.11969C>T (p.Pro3990Leu)	TTN (P3990L +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +10 more	GBenign
Select item 47639	NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile)	TTN, TTN-AS1 (V33889I +5 more)	Single nucleotide variant (missense variant)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 47520	NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser)	TTN, TTN-AS1 (P30726S +5 more)	Single nucleotide variant (missense variant)	Supraventricular tachycardia +14 more	GConflicting classifications of pathogenicity
Select item 46873	NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu)	TTN (P10875L +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +11 more	GConflicting classifications of pathogenicity
Select item 46599	NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu)	TTN (V5060L +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +10 more	GConflicting classifications of pathogenicity
Select item 43675	NM_000364.3(TNNT2):c.113C>T (p.Ala38Val)	TNNT2 (A28V +2 more)	Single nucleotide variant	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity