ClinVar for MedGen (Select 9373) - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1330183	GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1	ADCK2, AGBL3 +105 more	Copy number loss	Small face +7 more	GPathogenic
Select item 1065336	NM_001374353.1(GLI2):c.3784C>T (p.His1262Tyr)	GLI2 (H1137Y +2 more)	Single nucleotide variant (missense variant)	Pericallosal lipoma +9 more	GUncertain significance
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 929484	NM_130847.3(AMOTL1):c.479C>T (p.Pro160Leu)	AMOTL1 (P110L +1 more)	Single nucleotide variant (missense variant)	Hypertelorism +6 more	GConflicting classifications of pathogenicity
Select item 827847	NM_013390.3(CEMIP2):c.3144G>A (p.Trp1048Ter)	CEMIP2 (W1048* +2 more)	Single nucleotide variant (nonsense)	Inguinal hernia +5 more	GPathogenic
Select item 827846	NM_013390.3(CEMIP2):c.1358G>A (p.Cys453Tyr)	CEMIP2 (C453Y)	Single nucleotide variant (5 prime UTR variant +2 more)	Inguinal hernia +5 more	GPathogenic
Select item 694603	NCBI36/hg18 9q22.32-22.33(chr9:95946863-99986314)x1		Copy number loss	Hypertelorism +6 more	GPathogenic
Select item 625873	NM_001256012.3(MYH10):c.4505G>C (p.Arg1502Pro)	MYH10 (R1502P +3 more)	Single nucleotide variant (missense variant)	Wide nose +6 more	GPathogenic
Select item 599005	NM_001165963.4(SCN1A):c.3327dup (p.Ser1110fs)	LOC102724058, SCN1A (S1110fs +5 more)	Duplication (non-coding transcript variant +1 more)	Polymicrogyria +11 more	GPathogenic
Select item 598976	NM_004115.4(FGF14):c.486dup (p.Arg163fs)	FGF14 (R116fs +8 more)	Duplication (frameshift variant)	Cryptorchidism +17 more	GLikely pathogenic
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 523552	NM_001854.4(COL11A1):c.4048_4065del (p.Ser1350_Pro1355del)	COL11A1	Deletion (inframe_deletion +1 more)	Myopia +7 more	GLikely pathogenic
Select item 523510	NM_015100.4(POGZ):c.2771del (p.Pro924fs)	POGZ (P924fs +4 more)	Deletion (frameshift variant)	Downturned corners of mouth +16 more	GPathogenic
Select item 523500	NM_012330.4(KAT6B):c.5213C>T (p.Thr1738Ile)	KAT6B (T1738I +7 more)	Single nucleotide variant (missense variant)	Cryptorchidism +9 more	GConflicting classifications of pathogenicity
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 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 523325	NM_000093.5(COL5A1):c.3760C>T (p.Pro1254Ser)	COL5A1 (P1254S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GUncertain significance
Select item 523309	GRCh37/hg19 Xq13.1(chrX:68058460-68059931)	EFNB1	Copy number loss	Frontal bossing +2 more	GPathogenic
Select item 523272	GRCh37/hg19 22q11.21(chr22:18900000-20500000)	DGCR2, DGCR6L +29 more	Copy number gain	Pedal edema +3 more	GUncertain significance
Select item 376498	NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met)	PIK3CA (V344M)	Single nucleotide variant (missense variant)	Cowden syndrome +3 more	GPathogenic
Select item 374175	NM_004278.4(PIGL):c.176C>A (p.Pro59His)	PIGL (P59H)	Single nucleotide variant (missense variant)	CHIME syndrome +8 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 374121	NM_004586.3(RPS6KA3):c.533C>G (p.Ala178Gly)	RPS6KA3 (A178G)	Single nucleotide variant (missense variant)	Abnormality of the lower limb +13 more	GLikely pathogenic
Select item 268034	46;XY;t(1;10;4)(p32.2;q21.1;q23)dn		Translocation	Intellectual disability +4 more	GUncertain significance
Select item 268026	46;XX;t(7;14)(p15;q24)dn		Translocation	Anteriorly placed anus +13 more	GUncertain significance
Select item 268016	46;XY;inv(1)(p22.3p34.1)dn		Inversion	Hypertelorism +8 more	GPathogenic
Select item 268007	46;XX;t(5;17)(p15.31~32;q25.3)dn		Translocation	Hypotonia +10 more	GUncertain significance
Select item 267938	46;X;inv(X)(p22.31q13.1)dn		Inversion	Wide nose +2 more	GUncertain significance
Select item 267924	46;XY;t(16;20)(q23.1;p11.22)		Translocation	Hyperhydroxyprolinemia +24 more	GUncertain significance
Select item 267922	46;XY;ins(7;10)(q32;q22.1q24.3);t(9;16)(q22;q12.1)dn		Translocation	Athetosis +14 more	GUncertain significance
Select item 267907	46;XY;t(14;15)(q32.1;q15)dn		Translocation	Hypertelorism +1 more	GUncertain significance
Select item 267850	46;XY;t(8;10)(q13;p13)dn		Translocation	Hypertelorism +13 more	GPathogenic
Select item 267839	46;XY;inv(6)(q22.2q27)dn		Inversion	Hypertelorism +20 more	GPathogenic
Select item 267817	46;XY;t(1;5)(p35.3;q31.3)dn		Translocation	Low-set, posteriorly rotated ears +17 more	GPathogenic
Select item 267799	46;XY;t(3;17)(p14.3;q24.3)dn		Translocation	Abnormality of the tongue +15 more	GLikely pathogenic
Select item 242890	NM_005934.4(MLLT1):c.1418G>A (p.Arg473Gln)	MLLT1 (R473Q)	Single nucleotide variant (missense variant)	Hypertelorism +6 more	GLikely pathogenic
Select item 242882	NM_013275.6(ANKRD11):c.5317G>T (p.Glu1773Ter)	ANKRD11 (E1773*)	Single nucleotide variant (nonsense)	Hypertelorism +9 more	GPathogenic
Select item 224122	NM_006912.6(RIT1):c.67A>C (p.Lys23Gln)	RIT1 (K23Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 218934	t(12;19)(q24.21;q12)	MED13L	Translocation	Hypertelorism +13 more	GPathogenic
Select item 163391	NM_000501.4(ELN):c.1150+1G>A	ELN	Single nucleotide variant (splice donor variant)	Venous malformation +7 more	GConflicting classifications of pathogenicity
Select item 159398	NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln)	NSD1 (R2017Q +5 more)	Single nucleotide variant (missense variant)	Increased body weight +16 more	GPathogenic/Likely pathogenic
Select item 159315	NM_022455.5(NSD1):c.3839G>A (p.Trp1280Ter)	NSD1 (W1280* +4 more)	Single nucleotide variant (nonsense)	Sotos syndrome +19 more	GPathogenic
Select item 30544	NM_004278.4(PIGL):c.500T>C (p.Leu167Pro)	PIGL (L167P)	Single nucleotide variant (missense variant)	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome +3 more	GPathogenic
Select item 17326	NM_000088.4(COL1A1):c.1777G>A (p.Gly593Ser)	COL1A1 (G593S)	Single nucleotide variant (missense variant)	Skeletal dysplasia +28 more	GPathogenic/Likely pathogenic
Select item 13919	NM_020975.6(RET):c.2753T>C (p.Met918Thr)	RET (M918T +17 more)	Single nucleotide variant (missense variant)	RET-related condition +18 more	GPathogenic/Likely pathogenic
Select item 13271	NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys)	FGFR2 (S347C +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +25 more	GPathogenic/Likely pathogenic
Select item 9641	NC_012920.1:m.8993T>G	MT-ND4L, MT-ND5 +24 more	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 3474	NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu)	ELP4, PAX6 (K387* +4 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Congenital ocular coloboma +8 more	GConflicting classifications of pathogenicity

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Items: 49