ClinVar (all) for Orgtrack (Select 505496) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2575238	NM_000251.3(MSH2):c.659_661delinsAAT (p.Gly220_Gly221delinsGluTer)	MSH2	Indel (nonsense +2 more)	Lynch syndrome 1	GLikely pathogenic
Select item 2575237	NM_000251.3(MSH2):c.2291_2297del (p.Trp764fs)	MSH2 (W312fs +8 more)	Deletion (frameshift variant +1 more)	Lynch syndrome 1	GLikely pathogenic
Select item 2412819	NM_000444.6(PHEX):c.250G>C (p.Ala84Pro)	PHEX (A84P)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GPathogenic/Likely pathogenic
Select item 1801719	NM_000051.4(ATM):c.8151+1G>T	ATM, C11orf65	Single nucleotide variant (splice donor variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 1704289	NM_000424.4(KRT5):c.967G>A (p.Val323Met)	KRT5 (V323M)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 2B, generalized intermediate	GLikely pathogenic
Select item 1702988	NM_001844.5(COL2A1):c.1267-2_1269del	COL2A1	Deletion (splice acceptor variant)	Achondrogenesis type II	GPathogenic
Select item 1459147	NM_001793.6(CDH3):c.1086G>A (p.Trp362Ter)	CDH3 (W307* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1454254	NM_000546.6(TP53):c.645del (p.Ser215fs)	TP53 (S176fs +3 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 1454138	NM_001793.6(CDH3):c.661C>T (p.Arg221Ter)	CDH3 (R221* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1322049	NM_001793.6(CDH3):c.160+1G>A	CDH3, CDH3-AS1	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GPathogenic
Select item 932742	NM_000018.4(ACADVL):c.215C>T (p.Ser72Phe)	ACADVL (S95F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 599399	NM_001171.6(ABCC6):c.4041G>A (p.Gln1347=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GPathogenic
Select item 448955	NM_001126108.2(SLC12A3):c.283del (p.Gln95fs)	SLC12A3 (Q95fs)	Deletion (frameshift variant +1 more)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic
Select item 230456	NM_000059.4(BRCA2):c.1909+2T>A	BRCA2	Single nucleotide variant (splice donor variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely pathogenic
Select item 208162	NM_006424.3(SLC34A2):c.212_224del (p.Asn71fs)	SLC34A2 (N70fs +1 more)	Deletion (frameshift variant)	PULMONARY ALVEOLAR MICROLITHIASIS	GPathogenic
Select item 54210	NM_007294.4(BRCA1):c.134+2T>G	BRCA1	Single nucleotide variant (splice donor variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic