ClinVar for MedGen (Select 21844) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 691681	NM_001267550.2(TTN):c.85646C>T (p.Thr28549Ile)	TTN, TTN-AS1 (T19609I +5 more)	Single nucleotide variant (missense variant)	Ventricular fibrillation	GUncertain significance
Select item 523473	NM_004387.4(NKX2-5):c.711C>A (p.Tyr237Ter)	NKX2-5 (Y237*)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary dilated cardiomyopathy +4 more	GPathogenic
Select item 518526	NM_000722.4(CACNA2D1):c.1648G>T (p.Asp550Tyr)	CACNA2D1 (D550Y +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome +6 more	GConflicting classifications of pathogenicity
Select item 374137	NM_004415.4(DSP):c.2528C>A (p.Ser843Ter)	DSP (S843*)	Single nucleotide variant (nonsense)	Cardiomyopathy +5 more	GPathogenic
Select item 222715	NM_002471.4(MYH6):c.2612G>A (p.Arg871His)	MYH6 (R871H)	Single nucleotide variant (missense variant)	Atrial septal defect 3 +7 more	GUncertain significance
Select item 222577	NM_004415.4(DSP):c.3134G>A (p.Arg1045Gln)	DSP (R1045Q)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 222568	NM_001943.5(DSG2):c.3265G>A (p.Gly1089Ser)	DSG2-AS1, DSG2 (G1089S)	Single nucleotide variant (missense variant)	Ventricular fibrillation	GUncertain significance
Select item 222521	NM_201596.3(CACNB2):c.334-8C>T	CACNB2	Single nucleotide variant (intron variant)	Ventricular fibrillation +1 more	GConflicting classifications of pathogenicity
Select item 222488	NM_005751.5(AKAP9):c.5272G>C (p.Asp1758His)	AKAP9 (D1758H)	Single nucleotide variant (missense variant)	Ventricular fibrillation	GUncertain significance
Select item 201978	NM_001005242.3(PKP2):c.964G>T (p.Gly322Cys)	PKP2 (G322C)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +6 more	GConflicting classifications of pathogenicity
Select item 201214	NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp)	RYR2 (R420W)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 191858	NM_001267550.2(TTN):c.89708C>G (p.Thr29903Ser)	TTN, TTN-AS1 (T27335S +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 191555	NM_005751.5(AKAP9):c.9092A>G (p.Gln3031Arg)	AKAP9 (Q3031R +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +5 more	GBenign/Likely benign
Select item 190821	NM_000891.3(KCNJ2):c.973C>T (p.Arg325Cys)	KCNJ2 (R325C)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 190484	NM_005751.5(AKAP9):c.4825_4826delinsCA (p.Arg1609Gln)	AKAP9 (R1609Q)	Indel (missense variant)	Ventricular fibrillation +3 more	GConflicting classifications of pathogenicity
Select item 188476	NM_000152.5(GAA):c.676C>G (p.Leu226Val)	GAA (L226V)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely benign FDA Recognized database
Select item 180563	NM_017636.4(TRPM4):c.1682A>C (p.Asp561Ala)	TRPM4 (D561A +4 more)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 180530	NM_003098.3(SNTA1):c.1210G>A (p.Ala404Thr)	SNTA1 (A404T)	Single nucleotide variant (missense variant)	Ventricular fibrillation	GUncertain significance
Select item 180509	NM_001037.5(SCN1B):c.448+112G>A	SCN1B (R187H)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 180289	NM_201596.3(CACNB2):c.1056G>A (p.Ala352=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4 +1 more	GUncertain significance
Select item 180262	NM_005751.5(AKAP9):c.3580G>A (p.Ala1194Thr)	AKAP9 (A1194T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 180257	NM_001103.4(ACTN2):c.82C>T (p.Arg28Cys)	ACTN2 (R28C)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 67645	NM_000335.5(SCN5A):c.1199G>C (p.Gly400Ala)	SCN5A (G400A)	Single nucleotide variant (missense variant)	Ventricular fibrillation	Gnot provided
Select item 47670	NM_001267550.2(TTN):c.104377A>C (p.Met34793Leu)	TTN, TTN-AS1 (M34793L +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +9 more	GBenign/Likely benign
Select item 47561	NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr)	TTN, TTN-AS1 (A31885T +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +10 more	GConflicting classifications of pathogenicity
Select item 47137	NM_001267550.2(TTN):c.58636G>C (p.Glu19546Gln)	TTN, TTN-AS1 (E19546Q +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +8 more	GConflicting classifications of pathogenicity
Select item 47124	NM_001267550.2(TTN):c.57464G>A (p.Arg19155Lys)	TTN, TTN-AS1 (R19155K +5 more)	Single nucleotide variant (missense variant +1 more)	Tibial muscular dystrophy +9 more	GBenign/Likely benign
Select item 43683	NM_001018005.2(TPM1):c.240+4430G>A	LOC130057222, TPM1 +1 more (G3R)	Single nucleotide variant (non-coding transcript variant +2 more)	Ventricular fibrillation +2 more	GConflicting classifications of pathogenicity
Select item 43044	NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr)	LOC126861897, MHRT +1 more (A1637T)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GLikely benign FDA Recognized database
Select item 42487	NM_000218.3(KCNQ1):c.160_168dup (p.Ile54_Pro56dup)	KCNQ1	Duplication (inframe_insertion)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 36641	NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys)	MYH7 (N1327K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely benign FDA Recognized database
Select item 18060	NM_001148.6(ANK2):c.11791G>A (p.Glu3931Lys)	ANK2 (E1813K +50 more)	Single nucleotide variant (missense variant +1 more)	Ventricular fibrillation +7 more	GBenign/Likely benign
Select item 9383	NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu)	SCN5A (S1710L +5 more)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +11 more	GPathogenic/Likely pathogenic
Select item 5541	NM_005472.5(KCNE3):c.248G>A (p.Arg83His)	KCNE3, LIPT2 (R83H)	Single nucleotide variant (missense variant)	Brugada syndrome 6 +8 more	GConflicting classifications of pathogenicity

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Items: 34