ClinVar (all) for Orgtrack (Select 509080) - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3343972	NM_003072.5(SMARCA4):c.1943+4A>G	SMARCA4	Single nucleotide variant (intron variant)	Malignant tumor of breast	GUncertain significance
Select item 3343971	NM_004473.4(FOXE1):c.326A>T (p.Asp109Val)	FOXE1 (D109V)	Single nucleotide variant (missense variant)	congenital hypothyreodism	GLikely pathogenic
Select item 3343970	NM_001267550.2(TTN):c.99025T>C (p.Ser33009Pro)	TTN, TTN-AS1 (S23944P +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3343969	NM_000145.4(FSHR):c.1622C>A (p.Ala541Asp)	FSHR (A515D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343968	NM_000453.3(SLC5A5):c.1499_1501delinsT (p.Pro500fs)	SLC5A5 (P500fs)	Indel (frameshift variant)	congenital hypothyreodism	GLikely pathogenic
Select item 3340138	NM_000044.6(AR):c.1421_1425dup (p.Gly476fs)	AR (G476fs)	Duplication (frameshift variant +1 more)	Androgen resistance syndrome	GLikely pathogenic
Select item 3340137	NM_001267550.2(TTN):c.5759T>A (p.Val1920Glu)	TTN (V1874E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340136	NM_001267550.2(TTN):c.41716T>C (p.Trp13906Arg)	TTN (W11338R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340135	NM_001127222.2(CACNA1A):c.5840-15TG[3]	CACNA1A	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 2690996	NM_000295.5(SERPINA1):c.568C>T (p.Gln190Ter)	SERPINA1 (Q190*)	Single nucleotide variant (nonsense)	Alpha-1-antitrypsin deficiency	GPathogenic
Select item 2690995	NM_175914.5(HNF4A):c.194G>T (p.Ser65Ile)	HNF4A (S62I +3 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 2690994	NM_000059.4(BRCA2):c.7288G>T (p.Glu2430Ter)	BRCA2 (E2398* +3 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 2690993	NM_003977.4(AIP):c.619G>C (p.Ala207Pro)	AIP (A148P +1 more)	Single nucleotide variant (missense variant)	Pituitary adenoma predisposition	GUncertain significance
Select item 2690992	NM_001009944.3(PKD1):c.9850T>C (p.Cys3284Arg)	PKD1 (C3284R)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult (ADPKD)	GLikely pathogenic
Select item 2690991	NM_001009944.3(PKD1):c.6139G>A (p.Gly2047Ser)	PKD1 (G2047S)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult (ADPKD)	GLikely pathogenic
Select item 2690990	NM_020919.4(ALS2):c.2410C>A (p.Pro804Thr)	ALS2 (P804T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690989	NM_000263.4(NAGLU):c.196A>T (p.Ser66Cys)	LOC130060903, NAGLU (S66C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690988	NM_002972.4(SBF1):c.5376C>T (p.Gly1792=)	SBF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2578415	NM_000051.4(ATM):c.26T>A (p.Leu9His)	ATM (L9H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578414	NM_001267550.2(TTN):c.64457T>A (p.Ile21486Asn)	TTN, TTN-AS1 (I12421N +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578413	NM_001267550.2(TTN):c.2536T>G (p.Leu846Val)	TTN (L800V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578412	NM_018706.7(DHTKD1):c.1003T>A (p.Ser335Thr)	DHTKD1 (S335T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578411	NM_001267550.2(TTN):c.11311+4284T>C	TTN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2578410	NM_000399.5(EGR2):c.1154T>A (p.Leu385His)	EGR2 (L335H +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2578409	NM_001128164.2(ATXN1):c.1405C>A (p.Gln469Lys)	ATXN1 (Q469K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2578408	NM_000173.7(GP1BA):c.1292_1341del (p.Ala431fs)	GP1BA (A431fs)	Deletion (frameshift variant)	Bernard-Soulier syndrome, type A1	GLikely pathogenic
Select item 2570618	NM_004936.4(CDKN2B):c.209_210del (p.Ala70fs)	CDKN2B, CDKN2B-AS1 (A70fs)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2570617	NM_001267550.2(TTN):c.44005G>A (p.Asp14669Asn)	TTN (D13028N +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2570616	NM_030962.4(SBF2):c.3766G>C (p.Val1256Leu)	SBF2 (V1213L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2570615	NM_001267550.2(TTN):c.71113C>G (p.Pro23705Ala)	TTN, TTN-AS1 (P14765A +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2570614	NM_001267550.2(TTN):c.29964G>T (p.Glu9988Asp)	TTN (E9988D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2570613	NM_001267550.2(TTN):c.50148T>G (p.Thr16716=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2570612	NM_170606.3(KMT2C):c.430T>C (p.Ser144Pro)	KMT2C (S144P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2570611	NM_015346.4(ZFYVE26):c.2551C>A (p.Gln851Lys)	ZFYVE26 (Q851K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2570610	NM_000388.4(CASR):c.509C>G (p.Ser170Cys)	CASR (S170C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2570609	NM_002972.4(SBF1):c.2879C>G (p.Ala960Gly)	SBF1 (A960G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502892	NM_170606.3(KMT2C):c.10636C>G (p.Gln3546Glu)	KMT2C (Q3546E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502891	NM_000044.6(AR):c.2636T>C (p.Phe879Ser)	AR (F347S +1 more)	Single nucleotide variant (missense variant)	Androgen resistance syndrome	GLikely pathogenic
Select item 2502890	NM_000059.4(BRCA2):c.5653T>C (p.Cys1885Arg)	BRCA2 (C1885R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2502889	NM_005609.4(PYGM):c.2427T>G (p.Ser809=)	PYGM	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2502888	NM_001111125.3(IQSEC2):c.548A>C (p.Glu183Ala)	IQSEC2 (E183A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2501666	NM_001267550.2(TTN):c.11311+3658C>T	TTN (L4312F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1464253	NM_000162.5(GCK):c.671T>C (p.Met224Thr)	GCK (M224T +2 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2 +1 more	GConflicting classifications of pathogenicity

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Items: 43