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Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 201609	NM_003000.3(SDHB):c.269G>A (p.Arg90Gln)	SDHB (R90Q)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1504060	NM_005373.3(MPL):c.460T>C (p.Trp154Arg)	MPL (W154R)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +4 more	GPathogenic/Likely pathogenic
Select item 132965	NM_006218.4(PIK3CA):c.1769G>A (p.Trp590Ter)	PIK3CA (W590*)	Single nucleotide variant (nonsense)	Familial cancer of breast	Gnot provided
Select item 132967	NM_000142.5(FGFR3):c.2129G>T (p.Gly710Val)	FGFR3 (G710V +3 more)	Single nucleotide variant (missense variant +2 more)	Ovarian neoplasm	Gnot provided
Select item 132968	NM_000142.5(FGFR3):c.2135G>A (p.Arg712His)	FGFR3 (R712H +3 more)	Single nucleotide variant (missense variant +2 more)	Sarcoma	Gnot provided
Select item 30115	NM_004387.4(NKX2-5):c.848C>A (p.Pro283Gln)	NKX2-5 (P283Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +7 more	GUncertain significance
Select item 468246	NM_004387.4(NKX2-5):c.839C>T (p.Pro280Leu)	NKX2-5 (P280L)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 156161	NM_004387.4(NKX2-5):c.809G>A (p.Cys270Tyr)	NKX2-5 (C270Y)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1733674	NM_004387.4(NKX2-5):c.365T>C (p.Leu122Pro)	NKX2-5 (L122P)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1801214	NM_001718.6(BMP6):c.283C>T (p.Pro95Ser)	BMP6	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1801215	NM_001718.6(BMP6):c.287T>C (p.Leu96Pro)	BMP6	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1801216	NM_001718.6(BMP6):c.337C>G (p.Gln113Glu)	BMP6	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 132964	NM_005228.5(EGFR):c.2866G>A (p.Asp956Asn)	EGFR (D956N +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 402264	NM_000260.4(MYO7A):c.2307del (p.Asn769fs)	MYO7A (N758fs +1 more)	Deletion (frameshift variant)	Usher syndrome type 1 +1 more	GPathogenic
Select item 132971	NM_033360.4(KRAS):c.219G>A (p.Arg73=)	KRAS	Single nucleotide variant (synonymous variant)	Sarcoma	Gnot provided
Select item 132970	NM_033360.4(KRAS):c.216G>A (p.Met72Ile)	KRAS (M72I)	Single nucleotide variant (missense variant)	Sarcoma	Gnot provided
Select item 132969	NM_033360.4(KRAS):c.176C>T (p.Ala59Val)	KRAS (A59V)	Single nucleotide variant (missense variant)	Familial cancer of breast	Gnot provided
Select item 65758	NM_145239.3(PRRT2):c.649dup (p.Arg217fs)	MVP-DT, PRRT2 (R217fs)	Duplication (frameshift variant)	Infantile convulsions and choreoathetosis +13 more	GPathogenic/Likely pathogenic
Select item 444396	NM_000546.6(TP53):c.478A>G (p.Met160Val)	TP53 (M121V +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +3 more	GConflicting classifications of pathogenicity
Select item 993576	NM_001042492.3(NF1):c.1139T>G (p.Leu380Arg)	NF1 (L380R)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 132963	NM_004448.4(ERBB2):c.3146G>A (p.Ser1049Asn)	ERBB2 (S1019N +21 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast	Gnot provided
Select item 1330317	NM_000419.5(ITGA2B):c.620C>T (p.Thr207Ile)	ITGA2B (T207I)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	LOC130062818, LOC130062819 +332 more	Copy number gain	See cases	GPathogenic
Select item 59078	GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	ABCA7, ABHD17A +321 more	Copy number gain	See cases	GPathogenic
Select item 57441	GRCh38/hg38 19p13.3(chr19:259395-819679)x3	BSG, BSG-AS1 +74 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic
Select item 152851	GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	ABCA7, ABHD17A +301 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 3045431	NM_198591.4(BSG):c.-89C>A	BSG, BSG-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	BSG-related disorder	GLikely benign
Select item 2307913	NM_001728.4(BSG):c.11C>G (p.Ala4Gly)	BSG (A4G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3042170	NM_001728.4(BSG):c.76G>T (p.Val26Phe)	BSG (V26F)	Single nucleotide variant (missense variant +1 more)	BSG-related disorder	GBenign
Select item 3045172	NM_001728.4(BSG):c.87G>A (p.Pro29=)	BSG	Single nucleotide variant (synonymous variant +1 more)	BSG-related disorder	GLikely benign
Select item 3039551	NM_001728.4(BSG):c.366G>A (p.Ala122=)	BSG	Single nucleotide variant (synonymous variant +1 more)	BSG-related disorder	GLikely benign
Select item 797389	NM_001728.4(BSG):c.416-8C>T	BSG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2483418	NM_001728.4(BSG):c.430A>G (p.Thr144Ala)	BSG (T144A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 713537	NM_001728.4(BSG):c.435C>T (p.Thr145=)	BSG	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3047114	NM_001728.4(BSG):c.444C>T (p.Asp148=)	BSG	Single nucleotide variant (synonymous variant +2 more)	BSG-related disorder	GLikely benign
Select item 3135216	NM_001728.4(BSG):c.520G>C (p.Gly174Arg)	BSG (G58R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2483061	NM_001728.4(BSG):c.524G>C (p.Gly175Ala)	BSG (G59A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3135217	NM_001728.4(BSG):c.536A>G (p.Lys179Arg)	BSG (K179R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3059371	NM_001728.4(BSG):c.543C>T (p.Asp181=)	BSG	Single nucleotide variant (synonymous variant +2 more)	BSG-related disorder	GBenign
Select item 3059477	NM_001728.4(BSG):c.582C>G (p.Ser194=)	BSG	Single nucleotide variant (synonymous variant +1 more)	BSG-related disorder	GBenign
Select item 17751	NM_001728.4(BSG):c.622G>A (p.Glu208Lys)	BSG (E92K +1 more)	Single nucleotide variant (missense variant +1 more)	BLOOD GROUP--OK	GAffects
Select item 2484043	NM_001728.4(BSG):c.635C>T (p.Thr212Met)	BSG (T3M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261914	NM_001728.4(BSG):c.672G>T (p.Lys224Asn)	BSG (K15N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059879	NM_001728.4(BSG):c.675T>C (p.Ala225=)	BSG	Single nucleotide variant (synonymous variant)	BSG-related disorder	GBenign
Select item 3037529	NM_001728.4(BSG):c.720G>A (p.Leu240=)	BSG	Single nucleotide variant (synonymous variant)	BSG-related disorder	GBenign
Select item 3135218	NM_001728.4(BSG):c.766T>C (p.Tyr256His)	BSG (Y140H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605586	NM_001728.4(BSG):c.842G>T (p.Gly281Val)	BSG (G72V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550661	NM_001728.4(BSG):c.845G>A (p.Arg282Gln)	BSG (R166Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785595	NM_001728.4(BSG):c.849A>G (p.Ser283=)	BSG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3135219	NM_001728.4(BSG):c.863A>G (p.Glu288Gly)	BSG (E172G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486676	NM_001728.4(BSG):c.944C>T (p.Thr315Met)	BSG (T106M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041370	NM_001728.4(BSG):c.1026C>T (p.Ile342=)	BSG	Single nucleotide variant (synonymous variant)	BSG-related disorder	GLikely benign
Select item 2345183	NM_001728.4(BSG):c.1045C>T (p.Arg349Trp)	BSG (R140W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060190	NM_001728.4(BSG):c.1095-9G>A	BSG	Single nucleotide variant (intron variant)	BSG-related disorder	GBenign
Select item 2628783	NM_001728.4(BSG):c.1138C>T (p.Arg380Cys)	BSG (R171C +2 more)	Single nucleotide variant (missense variant)	BSG-related disorder	GUncertain significance
Select item 1241595	NM_001728.4(BSG):c.*238C>T	BSG	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 162499	NM_000527.5(LDLR):c.1359-1G>A	MIR6886, LDLR	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 3062384	GRCh37/hg19 19p13.3(chr19:260911-1210337)x1	ABCA7, ARHGAP45 +37 more	Copy number loss	not specified	GPathogenic
Select item 3062378	GRCh37/hg19 19p13.3(chr19:352288-1186507)x3	ABCA7, ARHGAP45 +34 more	Copy number gain	not specified	GUncertain significance
Select item 3024609	GRCh37/hg19 19p13.3(chr19:496500-590577)x3	BSG, CDC34 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2685627	GRCh37/hg19 19p13.3(chr19:260912-713630)x1	BSG, C2CD4C +16 more	Copy number loss	not provided	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 1706510	GRCh37/hg19 19p13.3(chr19:260911-2256387)x3	ABCA7, ABHD17A +77 more	Copy number gain	See cases	GPathogenic
Select item 1703549	GRCh37/hg19 19p13.3(chr19:260911-1319319)	ATP5F1D, ARHGAP45 +43 more	Copy number loss	Peutz-Jeghers syndrome	GPathogenic
Select item 980200	GRCh37/hg19 19p13.3(chr19:414714-713630)x3	ODF3L2, CDC34 +12 more	Copy number gain	not provided	GLikely benign
Select item 980199	GRCh37/hg19 19p13.3(chr19:352288-633755)x3	POLRMT, GZMM +9 more	Copy number gain	not provided	GLikely benign
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 816059	GRCh37/hg19 19p13.3(chr19:260911-3501271)x3	ADAMTSL5, PLEKHJ1 +106 more	Copy number gain	not provided	GPathogenic
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 564605	GRCh37/hg19 19p13.3(chr19:260911-3200875)x3	ABCA7, ABHD17A +102 more	Copy number gain	not provided	GPathogenic
Select item 523266	GRCh37/hg19 19p13.3(chr19:259395-3152419)	NDUFS7, OAZ1 +100 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 444854	GRCh37/hg19 19p13.3(chr19:266117-1094614)x3	ABCA7, ARHGAP45 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442971	GRCh37/hg19 19p13.3(chr19:415092-715725)x3	ABCA7, ARHGAP45 +29 more	Copy number gain	See cases	GLikely benign
Select item 442900	GRCh37/hg19 19p13.3(chr19:260911-1965786)x3	ABCA7, ABHD17A +67 more	Copy number gain	See cases	GLikely pathogenic
Select item 395476	GRCh37/hg19 19p13.3(chr19:548651-579366)x3	BSG, GZMM	Copy number gain	See cases	GBenign
Select item 394467	GRCh37/hg19 19p13.3(chr19:548651-571351)x3	BSG, GZMM	Copy number gain	See cases	GBenign
Select item 253623	GRCh37/hg19 19p13.3(chr19:277373-2555164)x3	ABCA7, ABHD17A +87 more	Copy number gain	See cases	GPathogenic
Select item 252977	GRCh37/hg19 19p13.3(chr19:260912-1163934)x3	ABCA7, ARHGAP45 +36 more	Copy number gain	See cases	GPathogenic
Select item 132966	NM_006218.2:c.1821+51A>T	PIK3CA	Single nucleotide variant	Sarcoma	Gnot provided
Select item 132962	NM_001002295.1:c.1482-5C>T	GATA3	Single nucleotide variant	Familial cancer of breast	Gnot provided

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Items: 86