ClinVar for MedGen (Select 214590) - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3257758	NM_004333.6(BRAF):c.1798_1799delinsAA	BRAF (V600E +15 more)	Single nucleotide variant (missense variant)	Neoplasm	OOncogenic
Select item 2691257	NM_001243133.2(NLRP3):c.29G>T (p.Arg10Met)	NLRP3 (R10M +1 more)	Single nucleotide variant (missense variant)	Cerebral arteriovenous malformation	GPathogenic
Select item 2203757	NM_004557.4(NOTCH4):c.4855C>A (p.Leu1619Met)	NOTCH4 (L1619M)	Single nucleotide variant (missense variant +1 more)	Cerebral arteriovenous malformation	GUncertain significance
Select item 1046139	NM_004985.5(KRAS):c.388_389delinsAT (p.Ala130Ile)	KRAS (A130I)	Indel (missense variant)	Autoimmune lymphoproliferative syndrome type 4 +12 more	GUncertain significance
Select item 690297	NM_004333.6(BRAF):c.1906C>T (p.Gln636Ter)	BRAF (Q636* +7 more)	Single nucleotide variant (nonsense)	Cerebral arteriovenous malformation	GPathogenic
Select item 626130	NM_033360.4(KRAS):c.112-5C>T	KRAS	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 4 +12 more	GConflicting classifications of pathogenicity
Select item 620625	NM_033360.4(KRAS):c.101_106del	KRAS	Deletion (3 prime UTR variant +1 more)	RASopathy +14 more	GConflicting classifications of pathogenicity
Select item 545112	NM_005228.5(EGFR):c.1881-858G>T	EGFR (E631*)	Single nucleotide variant (nonsense +1 more)	Cerebral arteriovenous malformation +1 more	GConflicting classifications of pathogenicity
Select item 545111	NM_001284236.3(ZFYVE16):c.3442G>T (p.Asp1148Tyr)	ZFYVE16 (D1148Y)	Single nucleotide variant (missense variant +1 more)	Cerebral arteriovenous malformation	GLikely pathogenic
Select item 545110	NM_024870.4(PREX2):c.3355G>A (p.Ala1119Thr)	PREX2 (A1119T)	Single nucleotide variant (missense variant)	Cerebral arteriovenous malformation	GLikely pathogenic
Select item 545109	NM_017563.5(IL17RD):c.676G>A (p.Gly226Ser)	IL17RD (G226S +1 more)	Single nucleotide variant (missense variant)	Cerebral arteriovenous malformation	GLikely pathogenic
Select item 545108	NM_001792.5(CDH2):c.2075A>G (p.Asn692Ser)	CDH2 (N692S +1 more)	Single nucleotide variant (missense variant)	Cerebral arteriovenous malformation	GLikely pathogenic
Select item 545107	NM_001395002.1(MAP4K4):c.1694G>A (p.Arg565Gln)	MAP4K4 (R565Q +5 more)	Single nucleotide variant (missense variant +1 more)	Cerebral arteriovenous malformation	GLikely pathogenic
Select item 545106	NM_001367977.2(SCUBE2):c.2057G>A (p.Cys686Tyr)	NRIP3-DT, SCUBE2 (C531Y +2 more)	Single nucleotide variant (missense variant +1 more)	Cerebral arteriovenous malformation	GLikely pathogenic
Select item 545105	NM_000362.5(TIMP3):c.311T>C (p.Leu104Pro)	SYN3, TIMP3 (L104P)	Single nucleotide variant (missense variant +1 more)	Cerebral arteriovenous malformation	GLikely pathogenic
Select item 545104	NM_001114753.3(ENG):c.920dup (p.Asn307fs)	ENG (N307fs +1 more)	Duplication (frameshift variant)	Hereditary hemorrhagic telangiectasia +1 more	GPathogenic
Select item 545103	NM_014319.5(LEMD3):c.2639C>G (p.Thr880Ser)	LEMD3 (T879S +1 more)	Single nucleotide variant (missense variant)	Cerebral arteriovenous malformation	GPathogenic
Select item 545102	NM_006513.4(SARS1):c.971T>C (p.Ile324Thr)	SARS1 (I324T)	Single nucleotide variant (missense variant)	Cerebral arteriovenous malformation	GPathogenic
Select item 545101	NM_031220.4(PITPNM3):c.274C>T (p.Arg92Ter)	PITPNM3 (R92* +1 more)	Single nucleotide variant (nonsense)	Cerebral arteriovenous malformation	GPathogenic
Select item 523543	NM_032119.4(ADGRV1):c.5188A>T (p.Ile1730Phe)	ADGRV1 (I1730F)	Single nucleotide variant (missense variant +1 more)	Cerebral arteriovenous malformation +3 more	GUncertain significance
Select item 523531	NM_021098.3(CACNA1H):c.6884C>T (p.Ser2295Phe)	CACNA1H (S2295F +1 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 6 +6 more	GConflicting classifications of pathogenicity
Select item 523482	NM_001374353.1(GLI2):c.2593A>T (p.Thr865Ser)	GLI2 (T882S +2 more)	Single nucleotide variant (missense variant)	Arteriovenous malformation +10 more	GUncertain significance
Select item 496491	NM_033360.4(KRAS):c.4+5G>A	KRAS	Single nucleotide variant (intron variant)	Lung cancer +12 more	GBenign/Likely benign
Select item 468331	NM_007217.4(PDCD10):c.474+5G>A	PDCD10	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 3 +6 more	GPathogenic/Likely pathogenic
Select item 379556	NM_033360.4(KRAS):c.5-18A>G	KRAS	Single nucleotide variant (intron variant)	not provided +13 more	GBenign/Likely benign
Select item 180861	NM_033360.4(KRAS):c.389C>T (p.Ala130Val)	KRAS (A130V)	Single nucleotide variant (missense variant)	Noonan syndrome 3 +15 more	GUncertain significance
Select item 180145	NM_017563.5(IL17RD):c.572C>T (p.Pro191Leu)	IL17RD (P191L +1 more)	Single nucleotide variant (missense variant)	Delayed puberty +2 more	GConflicting classifications of pathogenicity
Select item 180052	NM_004985.5(KRAS):c.451-5652C>T	KRAS	Single nucleotide variant (intron variant)	Cardiofaciocutaneous syndrome 2 +12 more	GLikely benign
Select item 177714	NM_004985.5(KRAS):c.112-9C>T	KRAS	Single nucleotide variant (intron variant)	RASopathy +12 more	GLikely benign
Select item 138061	NM_033360.4(KRAS):c.90C>T (p.Asp30=)	KRAS	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign FDA Recognized database
Select item 45119	NM_004985.5(KRAS):c.24A>G (p.Val8=)	KRAS	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign FDA Recognized database
Select item 45117	NM_004985.5(KRAS):c.183A>T (p.Gln61His)	KRAS (Q61H)	Single nucleotide variant (missense variant)	Gastric adenocarcinoma +14 more	GPathogenic/Likely pathogenic
Select item 40452	NM_004985.5(KRAS):c.65A>G (p.Gln22Arg)	KRAS (Q22R)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 13961	NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)	BRAF (V600E +7 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GPathogenic/Likely pathogenic STier I - Strong OOncogenic
Select item 12587	NM_004985.5(KRAS):c.458A>T (p.Asp153Val)	KRAS (D153V)	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 12583	NM_004985.5(KRAS):c.35G>T (p.Gly12Val)	KRAS (G12V)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +5 more	GPathogenic OOncogenic
Select item 12582	NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)	KRAS (G12D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GPathogenic/Likely pathogenic OOncogenic

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Items: 37