C0038644[trait identifier] AND "Robert's Program, Boston Children's Ho - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 530477	NM_001165963.4(SCN1A):c.3886T>A (p.Leu1296Met)	LOC102724058, SCN1A (L1296M +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 1327127	NM_001165963.4(SCN1A):c.2045G>T (p.Gly682Val)	SCN1A (G653V +4 more)	Single nucleotide variant (missense variant +2 more)	SUDDEN INFANT DEATH SYNDROME +2 more	GConflicting classifications of pathogenicity
Select item 47599	NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs)	TTN, TTN-AS1 (R23702fs +4 more)	Deletion (frameshift variant +1 more)	Cardiovascular phenotype +6 more	GPathogenic/Likely pathogenic
Select item 180058	NM_001267550.2(TTN):c.97492+1G>C	TTN, TTN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +6 more	GPathogenic/Likely pathogenic
Select item 1315454	NM_001267550.2(TTN):c.91721A>T (p.Glu30574Val)	TTN, TTN-AS1 (E21509V +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 202789	NM_001267550.2(TTN):c.64898G>A (p.Arg21633Gln)	TTN, TTN-AS1 (R19992Q +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +3 more	GUncertain significance
Select item 1327135	NM_001267550.2(TTN):c.43622C>T (p.Ser14541Leu)	TTN (S11973L +5 more)	Single nucleotide variant (missense variant)	SUDDEN INFANT DEATH SYNDROME	GUncertain significance
Select item 8284	NM_033337.3(CAV3):c.260T>C (p.Leu87Pro)	OXTR, CAV3 (L87P)	Single nucleotide variant (missense variant)	SUDDEN INFANT DEATH SYNDROME +2 more	GUncertain significance
Select item 67974	NM_000335.5(SCN5A):c.5284G>A (p.Val1762Met)	SCN5A (V1762M +5 more)	Single nucleotide variant (missense variant)	SUDDEN INFANT DEATH SYNDROME +2 more	GPathogenic
Select item 67939	NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His)	SCN5A (R1631H +5 more)	Single nucleotide variant (missense variant)	Brugada syndrome +7 more	GConflicting classifications of pathogenicity
Select item 1327132	NM_000335.5(SCN5A):c.4296+1del	SCN5A	Deletion (splice donor variant +1 more)	SUDDEN INFANT DEATH SYNDROME +3 more	GPathogenic/Likely pathogenic
Select item 1327133	NM_000335.5(SCN5A):c.3837+12C>T	SCN5A	Single nucleotide variant (intron variant)	Brugada syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 44580	NM_002667.5(PLN):c.37AGA[1] (p.Arg14del)	CEP85L, PLN (R14del)	Microsatellite (inframe_indel +2 more)	SUDDEN INFANT DEATH SYNDROME +6 more	GConflicting classifications of pathogenicity
Select item 1327131	NM_001458.5(FLNC):c.3964+5G>A	FLNC	Single nucleotide variant (intron variant)	Myofibrillar myopathy 5 +4 more	GUncertain significance
Select item 42742	NM_000256.3(MYBPC3):c.3791G>A (p.Cys1264Tyr)	MYBPC3 (C1264Y)	Single nucleotide variant (missense variant)	SUDDEN INFANT DEATH SYNDROME +6 more	GUncertain significance
Select item 42791	NM_000256.3(MYBPC3):c.821+1G>A	MYBPC3	Single nucleotide variant (splice donor variant)	Primary familial hypertrophic cardiomyopathy +9 more	GPathogenic
Select item 1327129	NM_001330260.2(SCN8A):c.3284G>A (p.Arg1095Gln)	SCN8A (R1095Q)	Single nucleotide variant (missense variant)	SUDDEN INFANT DEATH SYNDROME +1 more	GUncertain significance
Select item 16190	NM_000814.6(GABRB3):c.650G>A (p.Arg217His)	GABRB3 (R132H +2 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 5 +3 more	GConflicting classifications of pathogenicity
Select item 1327130	NM_007202.4(AKAP10):c.850A>G (p.Lys284Glu)	AKAP10 (K284E)	Single nucleotide variant (missense variant)	SUDDEN INFANT DEATH SYNDROME	GUncertain significance
Select item 1327128	NM_000334.4(SCN4A):c.2045C>G (p.Ser682Trp)	GH-LCR, SCN4A (S682W)	Single nucleotide variant (missense variant)	SUDDEN INFANT DEATH SYNDROME	GUncertain significance
Select item 324830	NM_000891.3(KCNJ2):c.119G>A (p.Arg40Gln)	KCNJ2 (R40Q)	Single nucleotide variant (missense variant)	SUDDEN INFANT DEATH SYNDROME +5 more	GConflicting classifications of pathogenicity
Select item 1327136	NM_001083962.2(TCF4):c.562T>A (p.Ser188Thr)	TCF4 (S117T +10 more)	Single nucleotide variant (missense variant +1 more)	SUDDEN INFANT DEATH SYNDROME	GUncertain significance
Select item 1199823	NM_001127222.2(CACNA1A):c.3365G>A (p.Arg1122His)	CACNA1A (R1122H +2 more)	Single nucleotide variant (missense variant)	SUDDEN INFANT DEATH SYNDROME +3 more	GConflicting classifications of pathogenicity
Select item 546467	NM_000363.5(TNNI3):c.556C>T (p.Arg186Trp)	TNNI3 (R186W)	Single nucleotide variant (missense variant)	SUDDEN INFANT DEATH SYNDROME +4 more	GConflicting classifications of pathogenicity
Select item 12426	NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp)	TNNI3 (R145W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GPathogenic
Select item 372392	NM_000219.6(KCNE1):c.173C>T (p.Thr58Ile)	KCNE1 (T58I)	Single nucleotide variant (missense variant)	SUDDEN INFANT DEATH SYNDROME +5 more	GConflicting classifications of pathogenicity
Select item 1327138	NM_001347721.2(DYRK1A):c.1501A>G (p.Ser501Gly)	DYRK1A (S472G +2 more)	Single nucleotide variant (missense variant)	SUDDEN INFANT DEATH SYNDROME	GUncertain significance
Select item 1327137	NM_001242896.3(DEPDC5):c.2105-1G>A	DEPDC5	Single nucleotide variant (splice acceptor variant)	SUDDEN INFANT DEATH SYNDROME	GLikely pathogenic
Select item 1327134	NM_001242896.3(DEPDC5):c.2446C>T (p.Gln816Ter)	DEPDC5 (Q738* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 214936	NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys)	PDHA1 (R378C +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase complex deficiency	GPathogenic FDA Recognized database
Select item 1327126	NM_001099922.3(ALG13):c.2525A>G (p.Gln842Arg)	ALG13 (Q680R +3 more)	Single nucleotide variant (missense variant +1 more)	SUDDEN INFANT DEATH SYNDROME	GUncertain significance

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Items: 31