ClinVar for MedGen (Select 745757) - ClinVar

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Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2571641	NM_005428.4(VAV1):c.909del (p.Asp303fs)	VAV1 (D271fs +1 more)	Deletion (frameshift variant)	Hearing impairment +10 more	GUncertain significance
Select item 2570668	NM_024657.5(MORC4):c.676A>G (p.Asn226Asp)	MORC4 (N226D)	Single nucleotide variant (missense variant)	Clinodactyly +4 more	GUncertain significance
Select item 2570667	NM_005938.4(FOXO4):c.449G>A (p.Trp150Ter)	FOXO4 (W95* +1 more)	Single nucleotide variant (nonsense)	Clinodactyly +4 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 1802172	NM_000243.3(MEFV):c.[2080A>G];[2177T>C]			Familial Mediterranean fever	GPathogenic
Select item 1707508	NM_014633.5(CTR9):c.85G>A (p.Glu29Lys)	CTR9 (E29K)	Single nucleotide variant (missense variant)	Limb undergrowth +7 more	GUncertain significance
Select item 1684498	NM_001256012.3(MYH10):c.2338C>T (p.Arg780Ter)	MYH10 (R749* +3 more)	Single nucleotide variant (nonsense)	Obesity +4 more	GUncertain significance
Select item 1332907	NM_022552.5(DNMT3A):c.1647C>A (p.Cys549Ter)	DNMT3A (C326* +3 more)	Single nucleotide variant (nonsense +1 more)	Obesity +6 more	GPathogenic
Select item 1172659	NM_014991.6(WDFY3):c.5114_5115del (p.Lys1705fs)	WDFY3 (K1705fs)	Deletion (frameshift variant)	Macrocephaly +1 more	GLikely pathogenic
Select item 1172605	NM_001170629.2(CHD8):c.5061del (p.Phe1687fs)	CHD8 (F1408fs +1 more)	Deletion (frameshift variant)	Macrocephaly	GPathogenic
Select item 1064659	NC_000019.10:g.42227530_42259211del	ERF, GSK3A +8 more	Deletion	Macrocephaly	GPathogenic
Select item 997831	NM_000264.5(PTCH1):c.2265_2268del (p.Leu756fs)	LOC100507346, PTCH1 (L605fs +4 more)	Deletion (non-coding transcript variant +1 more)	PTCH1-related disorder	GLikely pathogenic
Select item 996015	NM_018840.5(RAB5IF):c.75G>A (p.Trp25Ter)	LOC130065793, RAB5IF +1 more (W25*)	Single nucleotide variant (nonsense +2 more)	Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 +11 more	GPathogenic/Likely pathogenic
Select item 931615	NM_005909.5(MAP1B):c.4022C>T (p.Thr1341Ile)	MAP1B (T1215I +1 more)	Single nucleotide variant (missense variant)	Macrocephaly +2 more	GUncertain significance
Select item 917744	NM_002745.5(MAPK1):c.521C>T (p.Ala174Val)	MAPK1 (A174V)	Single nucleotide variant (missense variant)	Abnormal facial shape +5 more	GPathogenic
Select item 916131	NC_000006.12:g.106539151_106629957del	LOC129389600, LOC129996910 +5 more	Deletion	Global developmental delay +3 more	GUncertain significance
Select item 916015	NM_032730.5(RTN4IP1):c.263T>G (p.Val88Gly)	RTN4IP1 (V88G)	Single nucleotide variant (missense variant +1 more)	Global developmental delay +4 more	GUncertain significance
Select item 915989	GRCh37/hg19 14q13.2(chr14:35546356-35546423)	FAM177A1	Copy number loss	Mild obesity +3 more	GUncertain significance
Select item 870572	NM_001170629.2(CHD8):c.1732C>T (p.Arg578Cys)	CHD8 (R299C +1 more)	Single nucleotide variant (missense variant)	Fatigable weakness +5 more	GConflicting classifications of pathogenicity
Select item 850869	NM_004958.4(MTOR):c.5345A>G (p.His1782Arg)	MTOR (H1782R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 694731	NM_001384.5(DPH2):c.260G>T (p.Ser87Ile)	DPH2 (E27* +2 more)	Single nucleotide variant (missense variant +2 more)	Global developmental delay +2 more	GUncertain significance
Select item 684727	NM_000396.4(CTSK):c.905G>A (p.Trp302Ter)	CTSK (W302*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 626213	NM_004958.4(MTOR):c.7216G>A (p.Val2406Met)	MTOR (V2406M)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 617564	NM_182931.3(KMT2E):c.3070C>T (p.Gln1024Ter)	KMT2E (Q1024*)	Single nucleotide variant (nonsense)	See cases	GLikely pathogenic
Select item 598966	NM_007327.4(GRIN1):c.2531G>T (p.Arg844Leu)	GRIN1 (R844L +1 more)	Single nucleotide variant (missense variant)	Macrocephaly +6 more	GPathogenic/Likely pathogenic
Select item 598951	NM_000202.8(IDS):c.248T>G (p.Val83Gly)	IDS (V83G)	Single nucleotide variant (missense variant +2 more)	Joint contracture of the hand +6 more	GConflicting classifications of pathogenicity
Select item 598948	NM_001365999.1(SZT2):c.5025-2A>G	SZT2	Single nucleotide variant (splice acceptor variant)	Central hypotonia +8 more	GLikely pathogenic
Select item 598946	NM_003470.3(USP7):c.383+1G>C	USP7	Single nucleotide variant (splice donor variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 598945	NM_003470.3(USP7):c.333C>G (p.His111Gln)	USP7 (H111Q +3 more)	Single nucleotide variant (missense variant +1 more)	Generalized hypotonia +5 more	GUncertain significance
Select item 562125	GRCh38/hg38 9p23-22.3(chr9:14098660-14324148)x1	LOC124225049, LOC124225050 +3 more	Copy number loss	Intellectual disability +1 more	GPathogenic
Select item 560030	NM_001190737.2(NFIB):c.1067C>T (p.Ser356Leu)	NFIB (S356L +13 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly +1 more	GUncertain significance
Select item 560029	NM_001190737.2(NFIB):c.1063_1076del (p.Ile355fs)	NFIB (I103fs +13 more)	Deletion (frameshift variant +1 more)	Macrocephaly +1 more	GPathogenic
Select item 560028	NM_001190737.2(NFIB):c.758_759dup (p.Asn254Ter)	NFIB (N254* +11 more)	Duplication (nonsense +2 more)	Macrocephaly +1 more	GPathogenic
Select item 560027	NM_001190737.2(NFIB):c.395T>C (p.Leu132Pro)	NFIB (L132P +6 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly, acquired, with impaired intellectual development +2 more	GPathogenic/Likely pathogenic
Select item 560026	NM_001190737.2(NFIB):c.376A>G (p.Lys126Glu)	NFIB (K126E +6 more)	Single nucleotide variant (missense variant +1 more)	Marfanoid habitus and intellectual disability +4 more	GPathogenic/Likely pathogenic
Select item 560025	NM_001190737.2(NFIB):c.341A>C (p.Lys114Thr)	NFIB (K114T +6 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly +1 more	GPathogenic
Select item 560024	NM_001190737.2(NFIB):c.109C>T (p.Arg37Ter)	NFIB (R37* +5 more)	Single nucleotide variant (nonsense +1 more)	Macrocephaly, acquired, with impaired intellectual development +3 more	GPathogenic
Select item 545454	NM_017646.6(TRIT1):c.326T>C (p.Ile109Thr)	TRIT1 (I109T)	Single nucleotide variant (missense variant +2 more)	Macrocephaly +2 more	GConflicting classifications of pathogenicity
Select item 523561	NM_152424.4(AMER1):c.1911_1912del (p.Glu637fs)	AMER1 (E637fs)	Microsatellite (frameshift variant)	Myocarditis +3 more	GUncertain significance
Select item 523550	NM_001372044.2(SHANK3):c.3302C>T (p.Ser1101Phe)	SHANK3 (S1026F +1 more)	Single nucleotide variant (missense variant)	Atypical behavior +4 more	GUncertain significance
Select item 523514	NM_015559.3(SETBP1):c.4160C>T (p.Thr1387Met)	SETBP1 (T1387M)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 29 +6 more	GConflicting classifications of pathogenicity
Select item 523475	NM_004586.3(RPS6KA3):c.1522C>T (p.Gln508Ter)	RPS6KA3 (Q508*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +7 more	GPathogenic
Select item 523458	NM_001032221.6(STXBP1):c.360del (p.Lys120fs)	STXBP1 (K120fs +2 more)	Deletion (frameshift variant)	Atypical behavior +4 more	GPathogenic
Select item 523423	NM_001172509.2(SATB2):c.1654_1655del (p.Arg552fs)	SATB2 (R552fs)	Microsatellite (frameshift variant)	Global developmental delay +6 more	GPathogenic
Select item 523390	NM_001015877.2(PHF6):c.956G>C (p.Arg319Pro)	PHF6 (R319P)	Single nucleotide variant (missense variant)	Macrocephaly +7 more	GUncertain significance
Select item 523361	NM_000352.6(ABCC8):c.1793G>A (p.Arg598Gln)	ABCC8 (R598Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hypoglycemia +11 more	GLikely pathogenic
Select item 523356	NM_000314.8(PTEN):c.277C>A (p.His93Asn)	PTEN (H93N +1 more)	Single nucleotide variant (missense variant +1 more)	Loss of consciousness +2 more	GLikely pathogenic
Select item 523346	NM_001042492.3(NF1):c.4828dup (p.Ala1610fs)	NF1 (A1610fs +1 more)	Duplication (frameshift variant)	Cafe-au-lait spot +2 more	GLikely pathogenic
Select item 523299	GRCh37/hg19 Xq27.2(chrX:140928436-141157267)	MAGEC1, MAGEC3	Copy number gain	Dolichocephaly +3 more	GUncertain significance
Select item 523277	GRCh37/hg19 2p16.1-15(chr2:60308869-62368583)	PEX13, BCL11A +10 more	Copy number gain	Global developmental delay +2 more	GLikely pathogenic
Select item 523276	GRCh37/hg19 2p15(chr2:61576332-62775261)	B3GNT2, CCT4 +5 more	Copy number gain	Dolichocephaly +3 more	GUncertain significance
Select item 523256	GRCh37/hg19 17p11.2(chr17:16782546-20294038)	TRIM16L, MED9 +47 more	Copy number loss	Pes valgus +9 more	GPathogenic
Select item 522263	NM_013275.6(ANKRD11):c.6919C>T (p.Pro2307Ser)	ANKRD11 (P2307S)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 488617	NM_016495.6(TBC1D7):c.747dup (p.Val250fs)	TBC1D7, TBC1D7-LOC100130357 (V204fs +2 more)	Duplication (frameshift variant)	Macrocephaly	GPathogenic
Select item 428234	NM_000314.8(PTEN):c.377C>T (p.Ala126Val)	PTEN (A126V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely pathogenic
Select item 424722	NM_014783.5(ARHGAP11A):c.[1355C>G];[932G>T]			Autism spectrum disorder +1 more	GLikely benign
Select item 424344	NM_001190737.2(NFIB):c.265C>T (p.Arg89Ter)	NFIB (R89* +6 more)	Single nucleotide variant (nonsense)	Macrocephaly, acquired, with impaired intellectual development +3 more	GPathogenic/Likely pathogenic
Select item 422408	NM_001003800.2(BICD2):c.1636_1638del (p.Asn546del)	BICD2 (N546del)	Deletion (inframe_deletion)	not provided +15 more	GPathogenic/Likely pathogenic
Select item 419128	NM_006218.4(PIK3CA):c.278G>A (p.Arg93Gln)	PIK3CA (R93Q)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 375458	NM_000168.6(GLI3):c.2000G>T (p.Arg667Leu)	GLI3 (R667L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +9 more	GUncertain significance
Select item 374251	NM_020812.4(DOCK6):c.934C>T (p.His312Tyr)	DOCK6 (H312Y)	Single nucleotide variant (missense variant)	Hydrocephalus, nonsyndromic, autosomal recessive 1 +1 more	GUncertain significance
Select item 374230	NM_001134673.4(NFIA):c.905del (p.Gly302fs)	NFIA (G294fs +2 more)	Deletion (frameshift variant)	Cleft palate +1 more	GLikely pathogenic
Select item 373906	NM_001370658.1(BTD):c.40_41del (p.Gly14fs)	BTD (G14fs)	Deletion (frameshift variant)	Biotinidase deficiency	GPathogenic
Select item 372895	NM_001365999.1(SZT2):c.6120_6122del (p.Val2041del)	SZT2 (V1984del +1 more)	Deletion (inframe_deletion)	Cryptorchidism +10 more	GPathogenic/Likely pathogenic
Select item 370065	NC_012920.1(MT-CYB):m.15246G>A	MT-CYB	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 370057	NC_012920.1(MT-ND4):m.12018C>G	MT-ND4	Single nucleotide variant	Calcification of extrapyramidal basal ganglia +10 more	GUncertain significance
Select item 370056	NC_012920.1(MT-ND4):m.12013A>G	MT-ND4	Single nucleotide variant	Leigh syndrome +10 more	GUncertain significance
Select item 300869	NM_012330.4(KAT6B):c.1927A>T (p.Met643Leu)	KAT6B (M643L)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome +6 more	GUncertain significance
Select item 268041	46;XY;t(5;7)(q35;q33)dn		Translocation	Premature eruption of permanent teeth +6 more	GPathogenic
Select item 268016	46;XY;inv(1)(p22.3p34.1)dn		Inversion	Hypertelorism +8 more	GPathogenic
Select item 268010	46;XX;t(2;10)(p23;q22.1)dn		Translocation	Hypernasal speech +9 more	GPathogenic
Select item 268007	46;XX;t(5;17)(p15.31~32;q25.3)dn		Translocation	Hypotonia +10 more	GUncertain significance
Select item 268006	46;XY;t(6;11)(p12.3;p14.2)dn		Translocation	Delayed speech and language development +12 more	GPathogenic
Select item 267987	46;XY;inv(6)(p11.2q25.3)		Inversion	Delayed speech and language development +1 more	GUncertain significance
Select item 267975	46;XY;t(6;13)(q15;q22.3)		Translocation	Global developmental delay +1 more	GUncertain significance
Select item 267937	46;XY;t(5;15)(q11.2;q24)		Translocation	Coarse hair +13 more	GPathogenic
Select item 267892	46;XX;t(4;14)(p15.2;q13)dn		Translocation	Abnormality of the dentition +14 more	GLikely pathogenic
Select item 267879	46;XY;inv(1)(p11q21)dn		Inversion	Global developmental delay +3 more	GPathogenic
Select item 267869	46;XX;t(6;13)(q21;q32)dn		Translocation	Short nose +9 more	GLikely pathogenic
Select item 267861	46;XX;t(2;11)(q11.2;p13)dn		Translocation	Obesity +12 more	GPathogenic
Select item 267822	46;XY;t(1;3)(q32.1;q13.2)dn		Translocation	Developmental cataract +3 more	GUncertain significance
Select item 267804	46;XX;ins(3;1)(q23;p22p32)dn		Translocation	Hemangioma +6 more	GLikely pathogenic
Select item 228536	NM_080680.3(COL11A2):c.4559G>A (p.Arg1520His)	COL11A2 (R1520H +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 207170	NM_001191061.2(SLC25A22):c.679G>A (p.Val227Met)	SLC25A22 (V227M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 197662	NM_000314.8(PTEN):c.424C>T (p.Arg142Trp)	PTEN (R142W +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 189400	NM_000314.8(PTEN):c.106G>C (p.Gly36Arg)	PTEN (G36R +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GLikely pathogenic FDA Recognized database
Select item 189393	19p13.12 duplication		Duplication	Autism spectrum disorder +1 more	GLikely pathogenic
Select item 189392	NM_199261.4(TPTE):c.1357-3_1357-2del	TPTE	Deletion (splice acceptor variant)	Autism spectrum disorder +1 more	GUncertain significance
Select item 189359	NM_004214.5(FIBP):c.652C>T (p.Gln218Ter)	FIBP (Q218* +1 more)	Single nucleotide variant (nonsense)	Tall stature-intellectual disability-renal anomalies syndrome +6 more	GPathogenic/Likely pathogenic
Select item 183348	NM_173607.5(FAM177A1):c.366dup (p.Trp123fs)	FAM177A1 (W123fs +1 more)	Duplication (frameshift variant)	Macrocephaly +3 more	GLikely pathogenic
Select item 159398	NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln)	NSD1 (R2017Q +5 more)	Single nucleotide variant (missense variant)	Sotos syndrome +16 more	GPathogenic/Likely pathogenic
Select item 97557	NM_000243.3(MEFV):c.986G>A (p.Arg329His)	MEFV (R329H +1 more)	Single nucleotide variant (missense variant)	not specified +13 more	GConflicting classifications of pathogenicity
Select item 39814	NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp)	AKT3 (R465W)	Single nucleotide variant (missense variant +1 more)	AKT3-related disorder +9 more	GPathogenic/Likely pathogenic OLikely oncogenic
Select item 35609	NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met)	ABCC8 (V1173M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GUncertain significance
Select item 31946	NM_020297.4(ABCC9):c.3460C>T (p.Arg1154Trp)	ABCC9 (R1154W +1 more)	Single nucleotide variant (missense variant)	ABCC9-related disorder +18 more	GPathogenic/Likely pathogenic
Select item 21522	NM_015166.4(MLC1):c.178-10T>A	MLC1, LOC125446261	Single nucleotide variant (intron variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 2538	NM_000243.3(MEFV):c.2080A>G (p.Met694Val)	LOC126862264, MEFV	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +24 more	GPathogenic/Likely pathogenic

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Items: 97