ClinVar for MedGen (Select 340456) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 627534	NM_004423.4(DVL3):c.367G>A (p.Gly123Arg)	DVL3 (G123R)	Single nucleotide variant (missense variant)	Tented upper lip vermilion +10 more	GLikely pathogenic
Select item 598991	NM_004366.6(CLCN2):c.775G>A (p.Val259Ile)	CLCN2 (V259I +1 more)	Single nucleotide variant (missense variant)	Attention deficit hyperactivity disorder +8 more	GUncertain significance
Select item 598982	NM_015311.3(OBSL1):c.3341G>A (p.Trp1114Ter)	OBSL1 (W1114*)	Single nucleotide variant (nonsense)	Coarctation of aorta +12 more	GUncertain significance
Select item 598981	NM_015311.3(OBSL1):c.2980C>T (p.Arg994Cys)	OBSL1 (R994C)	Single nucleotide variant (missense variant)	Heart block +12 more	GUncertain significance
Select item 598968	NM_001379110.1(SLC9A6):c.1662-19_1662-3del	SLC9A6	Deletion (intron variant)	Autism +14 more	GLikely pathogenic
Select item 585297	NM_001348800.3(ZBTB20):c.1955A>T (p.His652Leu)	ZBTB20 (H652L +1 more)	Single nucleotide variant (missense variant +1 more)	Clinodactyly of the 5th finger +4 more	GLikely pathogenic
Select item 559504	GRCh37/hg19 5q31.1(chr5:131484039-132998360)x3	SLC22A4, LEAP2 +19 more	Copy number gain	Blepharophimosis +5 more	GUncertain significance
Select item 523557	NM_001365088.1(SLC12A6):c.752dup (p.Ser252fs)	SLC12A6 (S252fs +4 more)	Duplication (frameshift variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 523523	NM_018486.3(HDAC8):c.584T>G (p.Val195Gly)	HDAC8 (V195G +1 more)	Single nucleotide variant (missense variant +2 more)	Atrial septal defect +5 more	GLikely pathogenic
Select item 523423	NM_001172509.2(SATB2):c.1654_1655del (p.Arg552fs)	SATB2 (R552fs)	Microsatellite (frameshift variant)	Cleft palate +6 more	GPathogenic
Select item 523364	NM_000381.4(MID1):c.1765A>G (p.Asn589Asp)	LOC126863207, MID1 (N589D +1 more)	Single nucleotide variant (missense variant)	Low-set ears +4 more	GUncertain significance
Select item 474640	NM_033124.5(CCDC65):c.494del (p.Glu165fs)	CCDC65 (E22fs +1 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia 27 +3 more	GPathogenic
Select item 454724	NM_001369.3(DNAH5):c.10021C>G (p.Leu3341Val)	DNAH5 (L3341V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +4 more	GUncertain significance
Select item 374174	NM_003221.4(TFAP2B):c.830C>G (p.Ser277Trp)	TFAP2B (S277W)	Single nucleotide variant (missense variant)	Char syndrome +5 more	GUncertain significance
Select item 374132	NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter)	DMD (W3416* +8 more)	Single nucleotide variant (nonsense +1 more)	Qualitative or quantitative defects of dystrophin +11 more	GConflicting classifications of pathogenicity
Select item 279678	NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs)	ANKRD11 (K635fs)	Microsatellite (frameshift variant)	not provided +11 more	GPathogenic/Likely pathogenic
Select item 268025	46;XX;t(6;21)(q14;q21)dn		Translocation	Axial hypotonia +7 more	GLikely pathogenic
Select item 267939	46;XY;inv(2)(q11.2q24.2)dn		Inversion	Ear malformation +16 more	GUncertain significance
Select item 267892	46;XX;t(4;14)(p15.2;q13)dn		Translocation	Clinodactyly of the 5th finger +14 more	GLikely pathogenic
Select item 267834	46;X;t(Y;16)(q11.23;p11.2);t(6;21)(p21.3;p13)dn		Translocation	Abnormal facial skeleton morphology +18 more	GLikely pathogenic
Select item 267806	46;XX;ins(1;2)(p34.2;q22q24)dn		Translocation	Clinodactyly of the 5th finger +5 more	GUncertain significance
Select item 238270	NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile)	DYNC2H1 (L1228I)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 133221	NM_000540.3(RYR1):c.8290G>A (p.Glu2764Lys)	RYR1 (E2764K)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 30465	NM_005105.5(RBM8A):c.67+32G>C	LIX1L-AS1, LOC126805851 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Radial aplasia-thrombocytopenia syndrome +5 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance

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Items: 24