ClinVar for MedGen (Select 151862) - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233357	NM_001035006.5(RPL17):c.452del (p.Thr151fs)	RPL17, RPL17-C18orf32 (T113fs +3 more)	Deletion (frameshift variant)	High forehead +9 more	GLikely pathogenic
Select item 2571628	NM_001352702.2(PTK2):c.2563C>T (p.Arg855Ter)	PTK2 (R124* +34 more)	Single nucleotide variant (nonsense +1 more)	Failure to thrive +10 more	GUncertain significance
Select item 2430245	NM_002235.5(KCNA6):c.1367T>A (p.Val456Asp)	KCNA6 (V456D)	Single nucleotide variant (missense variant +1 more)	Inversion of nipple +10 more	GLikely pathogenic
Select item 1706642	NM_015571.4(SENP6):c.469C>T (p.Arg157Ter)	SENP6 (R157*)	Single nucleotide variant (nonsense +1 more)	Epicanthus +3 more	GLikely benign
Select item 1684526	NM_153827.5(MINK1):c.3206T>G (p.Leu1069Arg)	MINK1 (L1032R +4 more)	Single nucleotide variant (missense variant)	Autism +4 more	GUncertain significance
Select item 523499	NM_012330.4(KAT6B):c.3399_3402del (p.Arg1133fs)	KAT6B (R438fs +7 more)	Deletion (frameshift variant)	Blepharophimosis +9 more	GLikely pathogenic
Select item 523459	NM_001372066.1(TFAP2A):c.1043_1044del (p.Lys348fs)	TFAP2A (K340fs +2 more)	Deletion (frameshift variant)	Hypertelorism +13 more	GPathogenic
Select item 523287	GRCh37/hg19 7q36.3(chr7:156656444-156866708)	LMBR1, MNX1 +1 more	Copy number gain	Abnormality of the pulmonary veins +8 more	GUncertain significance
Select item 523286	GRCh37/hg19 7q36.3(chr7:156333296-156556779)	LMBR1, RNF32	Copy number gain	Abnormality of the pulmonary veins +8 more	GUncertain significance
Select item 374054	NM_001083962.2(TCF4):c.500-1G>A	TCF4	Single nucleotide variant (splice acceptor variant)	Global developmental delay +7 more	GPathogenic
Select item 268042	46;XY;t(18;20)(q21.1;p11.23)dn		Translocation	Atrial septal defect, ostium secundum type +26 more	GUncertain significance
Select item 268035	46;XX;t(19;21)(q13.3;q22.3)dn		Translocation	Thin upper lip vermilion +22 more	GPathogenic
Select item 268018	46;XY;t(2;10)(p25;q26)dn		Translocation	Joint hypermobility +6 more	GPathogenic
Select item 268007	46;XX;t(5;17)(p15.31~32;q25.3)dn		Translocation	Hypotonia +10 more	GUncertain significance
Select item 267941	46;XY;inv(6)(p22q13)dn		Inversion	Atrial septal defect +22 more	GPathogenic
Select item 267937	46;XY;t(5;15)(q11.2;q24)		Translocation	Coarse hair +13 more	GPathogenic
Select item 267927	46;XY;t(4;14)(p14;q11.2)dn		Translocation	Gastrostomy tube feeding in infancy +28 more	GUncertain significance
Select item 267905	46;XY;t(4;14;4;1)(q28.2;q13.1;28.2q21;p32.3)dn		Translocation	Inability to walk +17 more	GLikely pathogenic
Select item 267867	46;XX;t(6;15)(q23;q22)dn		Translocation	Speech articulation difficulties +12 more	GLikely pathogenic
Select item 267862	46;XY;t(1;3)(p22;q21)dn		Translocation	Corpus callosum, agenesis of +24 more	GUncertain significance
Select item 267860	46;X;t(X;12)(p11.2;q24.33)dn		Translocation	Wide mouth +11 more	GLikely pathogenic
Select item 267854	46;XX;inv(2)(p23q31)dn		Inversion	Upturned corners of mouth +8 more	GPathogenic
Select item 267832	46;XX;t(1;5)(p31;q33)dn		Translocation	Medial flaring of the eyebrow +13 more	GLikely pathogenic
Select item 267828	46;XY;t(7;19)(q32;q13.1)dn		Translocation	Achalasia +13 more	GPathogenic
Select item 267825	46;XY;t(1;9;5)(compleX)dn		Translocation	Alopecia areata +10 more	GLikely pathogenic
Select item 267824	46;XX;t(5;13)(q15;q32)dn		Translocation	Hypotonia +4 more	GUncertain significance
Select item 267821	46;XX;t(3;12)(q13.2;q14)dn		Translocation	Thin upper lip vermilion +16 more	GPathogenic
Select item 267817	46;XY;t(1;5)(p35.3;q31.3)dn		Translocation	Coarctation of aorta +17 more	GPathogenic
Select item 267812	46;XY;t(3;7)(q23;p15.3);inv(10)(p11.23q25.3)dn		Complex	Hydrocele testis +10 more	GPathogenic
Select item 267806	46;XX;ins(1;2)(p34.2;q22q24)dn		Translocation	Clinodactyly of the 5th finger +5 more	GUncertain significance
Select item 267799	46;XY;t(3;17)(p14.3;q24.3)dn		Translocation	Epicanthus +15 more	GLikely pathogenic
Select item 242882	NM_013275.6(ANKRD11):c.5317G>T (p.Glu1773Ter)	ANKRD11 (E1773*)	Single nucleotide variant (nonsense)	Cryptorchidism +9 more	GPathogenic
Select item 205892	NM_172107.4(KCNQ2):c.1004C>T (p.Pro335Leu)	KCNQ2 (P335L)	Single nucleotide variant (missense variant)	Epicanthus +6 more	GPathogenic/Likely pathogenic
Select item 195928	NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys)	MYH7 (E1223K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +11 more	GConflicting classifications of pathogenicity
Select item 161122	NM_152296.5(ATP1A3):c.410C>T (p.Ser137Phe)	ATP1A3 (S137F +2 more)	Single nucleotide variant (missense variant)	Epicanthus +7 more	GPathogenic
Select item 40555	NM_002834.5(PTPN11):c.1502G>A (p.Arg501Lys)	PTPN11 (R501K +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome +10 more	GPathogenic
Select item 31946	NM_020297.4(ABCC9):c.3460C>T (p.Arg1154Trp)	ABCC9 (R1154W +1 more)	Single nucleotide variant (missense variant)	Hypertrichotic osteochondrodysplasia Cantu type +18 more	GPathogenic/Likely pathogenic
Select item 18309	NM_001111067.4(ACVR1):c.617G>A (p.Arg206His)	ACVR1 (R206H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic

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Items: 38