ClinVar for MedGen (Select 746019) - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2571628	NM_001352702.2(PTK2):c.2563C>T (p.Arg855Ter)	PTK2 (R124* +34 more)	Single nucleotide variant (nonsense +1 more)	Autism +10 more	GUncertain significance
Select item 2570691	NM_001171876.2(MCF2):c.2462G>T (p.Gly821Val)	MCF2 (G821V +4 more)	Single nucleotide variant (missense variant)	Failure to thrive +1 more	GUncertain significance
Select item 1804056	NM_003601.4(SMARCA5):c.1301_1306del (p.Ile434_Leu435del)	SMARCA5	Deletion (inframe_deletion)	Microcephaly +3 more	GPathogenic
Select item 1804031	NM_002804.5(PSMC3):c.910C>T (p.Arg304Trp)	PSMC3 (R304W)	Single nucleotide variant (missense variant)	Microcephaly +11 more	GPathogenic
Select item 1684631	Single allele	LINC01922, LINC01927 +279 more	Deletion	Nystagmus +10 more	GPathogenic
Select item 1684521	NM_001105539.3(ZBTB10):c.466C>T (p.Arg156Ter)	ZBTB10 (R156*)	Single nucleotide variant (nonsense +1 more)	Astigmatism +7 more	GUncertain significance
Select item 1684509	NM_001400265.1(MTCL3):c.2332G>C (p.Gly778Arg)	MTCL3, SOGA3-KIAA0408 (G778R)	Single nucleotide variant (non-coding transcript variant +1 more)	Decreased body weight +6 more	GUncertain significance
Select item 1683711	NM_001378183.1(PIEZO2):c.64+1G>A	PIEZO2	Single nucleotide variant (splice donor variant)	Congenital ichthyosiform erythroderma +3 more	GLikely pathogenic
Select item 1678525	NM_001144061.2(COPB1):c.2102A>G (p.Gln701Arg)	COPB1 (Q701R)	Single nucleotide variant (missense variant)	Short stature +3 more	GPathogenic
Select item 1338810	NM_000193.4(SHH):c.86G>C (p.Gly29Ala)	SHH (G29A)	Single nucleotide variant (missense variant)	Anemia +9 more	GUncertain significance
Select item 1330212	GRCh37/hg19 1q21.1(chr1:145324298-146018577)x3	ANKRD34A, ANKRD35 +15 more	Copy number gain	Microcephaly +6 more	GUncertain significance
Select item 1330175	GRCh37/hg19 16p12.2(chr16:21751992-22546976)x1	UQCRC2, VWA3A +9 more	Copy number loss	Abnormal foot morphology +4 more	GPathogenic
Select item 1184622	NM_024706.5(ZNF668):c.1111C>T (p.Arg371Ter)	ZNF668 (R371* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies +4 more	GPathogenic
Select item 1184621	NM_024706.5(ZNF668):c.955C>T (p.Gln319Ter)	ZNF668 (Q319* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies +5 more	GPathogenic
Select item 1174006	NM_025150.5(TARS2):c.968T>G (p.Phe323Cys)	TARS2 (F323C)	Single nucleotide variant (missense variant +2 more)	Failure to thrive +2 more	GUncertain significance
Select item 1120267	NM_018017.4(CCDC186):c.767C>G (p.Ser256Ter)	CCDC186 (S256*)	Single nucleotide variant (nonsense +1 more)	Severe global developmental delay +9 more	GPathogenic
Select item 982316	NM_004818.3(DDX23):c.1886T>G (p.Ile629Ser)	DDX23 (I629S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 981245	NM_001983.4(ERCC1):c.321+61_525+132del	ERCC1	Deletion (splice acceptor variant +1 more)	Cutaneous photosensitivity +4 more	GPathogenic
Select item 978472	NM_001983.4(ERCC1):c.466C>T (p.Arg156Trp)	ERCC1 (R156W)	Single nucleotide variant (missense variant)	Cutaneous photosensitivity +5 more	GConflicting classifications of pathogenicity
Select item 978468	NM_014845.6(FIG4):c.2432C>G (p.Ser811Ter)	FIG4 (S811*)	Single nucleotide variant (nonsense)	Failure to thrive +4 more	GLikely pathogenic
Select item 929503	NM_005632.2:c.2904+1_2905-45del	CAPN15	Deletion	imperforated anus +10 more	GLikely pathogenic
Select item 812956	Single allele	ABCG4, ACRV1 +169 more	Deletion	Neurodevelopmental delay +7 more	GLikely pathogenic
Select item 812763	NM_004733.4(SLC33A1):c.963+1G>A	SLC33A1	Single nucleotide variant (splice donor variant +1 more)	Global developmental delay +2 more	GLikely pathogenic
Select item 659092	NM_012479.4(YWHAG):c.169C>T (p.Arg57Cys)	YWHAG (R57C)	Single nucleotide variant (missense variant)	not provided +10 more	GPathogenic
Select item 599000	NM_000494.4(COL17A1):c.4145_4148del (p.Glu1382fs)	COL17A1 (E1382fs)	Microsatellite (frameshift variant)	Anonychia +16 more	GPathogenic
Select item 598986	NM_001127.4(AP1B1):c.637G>A (p.Glu213Lys)	AP1B1 (E213K +1 more)	Single nucleotide variant (missense variant)	Sensory neuropathy +7 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 598965	NM_001038.6(SCNN1A):c.1427G>A (p.Arg476Gln)	SCNN1A (R476Q +2 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 590777	NM_001378418.1(TCF20):c.3605dup (p.Pro1203fs)	TCF20 (P1203fs)	Duplication (frameshift variant)	Failure to thrive +4 more	GPathogenic
Select item 545432	NM_024494.3(WNT2B):c.205C>T (p.Arg69Ter)	WNT2B (R50* +1 more)	Single nucleotide variant (nonsense +1 more)	Diarrhea 9 +5 more	GPathogenic
Select item 523333	NM_000117.3(EMD):c.184dup (p.Ser62fs)	EMD (S62fs)	Duplication (frameshift variant)	Myopathy +2 more	GPathogenic
Select item 523274	GRCh37/hg19 22q11.21(chr22:18894835-21505417)	CLTCL1, COMT +45 more	Copy number loss	Pes planus +13 more	GPathogenic
Select item 468927	NM_017636.4(TRPM4):c.1376G>A (p.Arg459His)	TRPM4 (R459H +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 424782	NM_002180.2(IGHMBP2):c.[660A>C];[92G>A]			Autosomal recessive distal spinal muscular atrophy 1	GLikely pathogenic
Select item 420362	NM_145199.3(LIPT1):c.369del (p.Lys123fs)	LIPT1, MITD1 (K123fs)	Deletion (frameshift variant +1 more)	Hypotonia +7 more	GConflicting classifications of pathogenicity
Select item 409952	NM_030973.4(MED25):c.1778_1779del (p.Gln593fs)	MED25 (Q593fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 2 +8 more	GUncertain significance
Select item 375373	NM_138615.3(DHX30):c.2344C>T (p.Arg782Trp)	DHX30 (R782W +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with severe motor impairment and absent language +1 more	GPathogenic
Select item 374795	NM_005157.6(ABL1):c.677A>G (p.Tyr226Cys)	ABL1 (Y226C +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 374794	NM_005157.6(ABL1):c.1009G>A (p.Ala337Thr)	ABL1 (A337T +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects and skeletal malformations syndrome +4 more	GPathogenic
Select item 316268	NM_000338.3(SLC12A1):c.2255C>T (p.Ala752Val)	SLC12A1 (A752V)	Single nucleotide variant (missense variant)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 268004	46;XX;t(16;22)(q23.2;q13.3)		Translocation	Failure to thrive	GUncertain significance
Select item 267979	46;XX;t(7;18)(p15;q21.1)		Translocation	Failure to thrive +2 more	GUncertain significance
Select item 267977	46;XY;t(6;14)(q21;q32.1)		Translocation	Failure to thrive	GUncertain significance
Select item 267972	46;XY;inv(17)(q24q25)		Inversion	Failure to thrive	GUncertain significance
Select item 267966	46;XX;t(2;5)(q33;p15.3)		Translocation	Oppositional defiant disorder +5 more	GUncertain significance
Select item 267925	46;XX;t(1;2)(q42.3;q24.2)dn		Translocation	Inversion of nipple +13 more	GUncertain significance
Select item 267910	46;XX;t(11;17)(q13;q25)dn		Translocation	Growth delay +7 more	GUncertain significance
Select item 267899	46;XY;t(3;4)(q25.3;q21.3)		Translocation	Colorectal polyposis +3 more	GUncertain significance
Select item 267883	46;X;inv(X)(p11.4q24)dn		Inversion	Thrombocytopenia +9 more	GPathogenic
Select item 267882	46;XX;inv(7)(q11.23q36.3)dn		Inversion	Congenital finger flexion contractures +13 more	GPathogenic
Select item 267881	46;XX;t(1;5)(p23;q15)dn		Translocation	Microcephaly +3 more	GLikely pathogenic
Select item 267857	46;XX;inv(5)(q14q35)dn		Inversion	Global developmental delay +14 more	GPathogenic
Select item 267856	46;XY;t(7;15)(q21;q26)dn		Translocation	Abnormal facial shape +16 more	GLikely pathogenic
Select item 267833	46;XY;t(6;12)(q14;q24);20p+dn		Complex	Growth delay +14 more	GPathogenic
Select item 267830	46;X;t(X;5)(q24;q13)dn		Translocation	Limb joint contracture +20 more	GPathogenic
Select item 267815	46;X;t(X;5)(p11.23;q35)dn		Translocation	High myopia +14 more	GPathogenic
Select item 267798	46;XY;t(9;16)(p24;q22)dn		Translocation	Alveolar capillary dysplasia with pulmonary venous misalignment +5 more	GPathogenic
Select item 252930	NM_138927.4(SON):c.6233del (p.Pro2078fs)	SON (P106fs +1 more)	Deletion (frameshift variant +1 more)	Global developmental delay +1 more	GLikely pathogenic
Select item 252929	NM_138927.4(SON):c.5753_5756del (p.Val1918fs)	SON (V1918fs)	Deletion (frameshift variant +2 more)	ZTTK syndrome +5 more	GPathogenic/Likely pathogenic
Select item 252928	NM_138927.4(SON):c.3852_3856del (p.Met1284fs)	SON (M1284fs)	Deletion (frameshift variant +2 more)	ZTTK syndrome +3 more	GPathogenic/Likely pathogenic
Select item 252927	NM_138927.4(SON):c.3073dup (p.Met1025fs)	SON (M1025fs)	Duplication (frameshift variant +2 more)	Global developmental delay +1 more	GLikely pathogenic
Select item 252926	NM_138927.4(SON):c.286C>T (p.Gln96Ter)	SON (Q96*)	Single nucleotide variant (nonsense +2 more)	Global developmental delay +2 more	GPathogenic/Likely pathogenic
Select item 242499	NM_002180.3(IGHMBP2):c.92G>A (p.Trp31Ter)	IGHMBP2 (W31*)	Single nucleotide variant (nonsense)	Clonus +8 more	GPathogenic
Select item 224716	NM_002074.5(GNB1):c.284T>C (p.Leu95Pro)	GNB1 (L95P)	Single nucleotide variant (5 prime UTR variant +1 more)	Hypotonia +2 more	GPathogenic/Likely pathogenic
Select item 224715	NM_002074.5(GNB1):c.239T>A (p.Ile80Asn)	GNB1 (I80N)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 42 +2 more	GPathogenic
Select item 224712	NM_002074.5(GNB1):c.228T>G (p.Asp76Glu)	GNB1 (D76E)	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodevelopmental Disability +7 more	GPathogenic/Likely pathogenic
Select item 221553	NM_015160.3(PMPCA):c.1066G>A (p.Gly356Ser)	PMPCA (G356S +2 more)	Single nucleotide variant (missense variant)	Global brain atrophy +12 more	GPathogenic
Select item 221552	NM_015160.3(PMPCA):c.1129G>A (p.Ala377Thr)	PMPCA (A377T +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 2 +13 more	GPathogenic
Select item 210291	NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=)	ARID1B	Single nucleotide variant (synonymous variant)	ARID1B-related condition +5 more	GPathogenic/Likely pathogenic
Select item 208722	NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)	GNB1 (I80T)	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodevelopmental disorder +7 more	GPathogenic/Likely pathogenic
Select item 183353	NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser)	ISCA2 (G77S)	Single nucleotide variant (missense variant +1 more)	Fatal multiple mitochondrial dysfunctions syndrome +2 more	GPathogenic/Likely pathogenic
Select item 183344	NM_005219.5(DIAPH1):c.2332C>T (p.Gln778Ter)	DIAPH1 (Q769* +1 more)	Single nucleotide variant (nonsense)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GPathogenic
Select item 183292	NM_022140.5(EPB41L4A):c.1298C>T (p.Ser433Leu)	EPB41L4A (S433L)	Single nucleotide variant (missense variant +1 more)	Failure to thrive +1 more	GLikely pathogenic
Select item 183277	NM_015087.5(SPART):c.1450dup (p.Thr484fs)	SPART (T484fs)	Duplication (frameshift variant)	Troyer syndrome	GPathogenic
Select item 144006	NM_007315.4(STAT1):c.1154C>T (p.Thr385Met)	STAT1 (T385M +9 more)	Single nucleotide variant (missense variant)	Inherited Immunodeficiency Diseases +17 more	GPathogenic
Select item 96314	NM_001267550.2(TTN):c.89386G>A (p.Val29796Met)	TTN, TTN-AS1 (V27228M +5 more)	Single nucleotide variant (missense variant)	not specified +18 more	GConflicting classifications of pathogenicity
Select item 39575	m.15923A>G	MT-TT	Single nucleotide variant	Mitochondrial disease +7 more	GConflicting classifications of pathogenicity
Select item 17463	NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys)	COL7A1 (R2069C)	Single nucleotide variant (missense variant)	COL7A1-related condition +23 more	GPathogenic/Likely pathogenic
Select item 17462	NM_000094.4(COL7A1):c.706C>T (p.Arg236Ter)	COL7A1 (R236*)	Single nucleotide variant (nonsense)	not provided +15 more	GPathogenic
Select item 13329	NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp)	PTPN11 (Y62D +1 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 2276	NM_014874.4(MFN2):c.280C>T (p.Arg94Trp)	MFN2 (R94W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +19 more	GPathogenic

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Items: 81