ClinVar for MedGen (Select 8192) - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1806185	NM_005543.4(INSL3):c.191G>T (p.Arg64Leu)	INSL3 (R64L +1 more)	Single nucleotide variant (missense variant)	Cryptorchidism +1 more	GUncertain significance
Select item 1802172	NM_000243.3(MEFV):c.[2080A>G];[2177T>C]			Familial Mediterranean fever	GPathogenic
Select item 1271020	NM_005543.4(INSL3):c.126A>G (p.Leu42=)	INSL3	Single nucleotide variant (synonymous variant)	Cryptorchidism +1 more	GBenign
Select item 1253265	NM_005543.4(INSL3):c.178A>G (p.Thr60Ala)	INSL3 (T60A)	Single nucleotide variant (missense variant)	Cryptorchidism +1 more	GBenign
Select item 1047897	GRCh37/hg19 9q34.3(chr9:139284464-141018984)	RNF208, RNF224 +68 more	Copy number loss	Coarctation of aorta +1 more	GPathogenic
Select item 997057	GRCh37/hg19 22q11.21(chr22:18909044-21464119)	AIFM3, ARVCF +44 more	Copy number gain	Cryptorchidism +1 more	GPathogenic
Select item 996741	NM_012233.3(RAB3GAP1):c.151-5T>G	RAB3GAP1	Single nucleotide variant (intron variant)	Cleft palate +17 more	GPathogenic
Select item 684729	NM_032793.5(MFSD2A):c.229-25_229-23del	MFSD2A (V82del)	Deletion (inframe_deletion +1 more)	Microcephaly +7 more	GPathogenic
Select item 623485	NM_014462.3(LSM1):c.231+4A>C	LSM1	Single nucleotide variant (intron variant)	Complex neurodevelopmental disorder +19 more	GUncertain significance
Select item 598976	NM_004115.4(FGF14):c.486dup (p.Arg163fs)	FGF14 (R116fs +8 more)	Duplication (frameshift variant)	Cleft palate +17 more	GLikely pathogenic
Select item 598963	NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter)	TMCO1 (R206* +2 more)	Single nucleotide variant (nonsense +1 more)	Cleft palate +20 more	GPathogenic
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 523500	NM_012330.4(KAT6B):c.5213C>T (p.Thr1738Ile)	KAT6B (T1738I +7 more)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 523303	GRCh37/hg19 6q25.3(chr6:156772218-157870875)x3	ARID1B, TMEM242 +1 more	Copy number gain	Cryptorchidism +7 more	GUncertain significance
Select item 431465	NM_015295.3(SMCHD1):c.511T>G (p.Phe171Val)	SMCHD1 (F171V)	Single nucleotide variant (missense variant)	Arrhinia with choanal atresia and microphthalmia syndrome	GUncertain significance
Select item 374171	NM_133433.4(NIPBL):c.1811_1812del (p.Lys603_Ser604insTer)	NIPBL	Deletion (nonsense)	Cornelia de Lange syndrome 1 +9 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 268006	46;XY;t(6;11)(p12.3;p14.2)dn		Translocation	Delayed speech and language development +12 more	GPathogenic
Select item 267937	46;XY;t(5;15)(q11.2;q24)		Translocation	Coarse hair +13 more	GPathogenic
Select item 267853	46;XY;inv(10)(q11.2q24)dn		Inversion	Axial hypotonia +8 more	GPathogenic
Select item 267833	46;XY;t(6;12)(q14;q24);20p+dn		Complex	Unilateral renal agenesis +14 more	GPathogenic
Select item 267820	46;XY;t(16;20)(q11.2;q13.2)dn		Translocation	Atrial septal defect +10 more	GUncertain significance
Select item 267808	46;XY;t(4;14)(p15.32;q32.1)dn		Translocation	Nystagmus +7 more	GUncertain significance
Select item 242882	NM_013275.6(ANKRD11):c.5317G>T (p.Glu1773Ter)	ANKRD11 (E1773*)	Single nucleotide variant (nonsense)	Cryptorchidism +9 more	GPathogenic
Select item 208490	NM_006009.4(TUBA1A):c.1226T>C (p.Val409Ala)	TUBA1A (V409A +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation +2 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 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 95305	NM_005634.3(SOX3):c.735_737dup (p.Ala248dup)	SOX3	Duplication (inframe_insertion)	not provided +27 more	GConflicting classifications of pathogenicity
Select item 37092	NM_005543.4(INSL3):c.217C>T (p.Arg73Ter)	INSL3 (R73*)	Single nucleotide variant (synonymous variant +1 more)	Cryptorchidism	GPathogenic
Select item 14832	NM_005543.4(INSL3):c.305G>A (p.Arg102His)	INSL3 (R102H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 14831	NM_005543.4(INSL3):c.304C>T (p.Arg102Cys)	INSL3 (R102C)	Single nucleotide variant (synonymous variant +1 more)	Cryptorchidism	GPathogenic
Select item 14830	NM_005543.4(INSL3):c.278C>T (p.Pro93Leu)	INSL3 (P93L +1 more)	Single nucleotide variant (missense variant)	Cryptorchidism	GPathogenic
Select item 14829	NM_005543.4(INSL3):c.330C>G (p.Asn110Lys)	INSL3 (N110K +1 more)	Single nucleotide variant (missense variant)	Cryptorchidism	GPathogenic
Select item 11728	NM_000489.6(ATRX):c.7156C>T (p.Arg2386Ter)	ATRX (R2348* +1 more)	Single nucleotide variant (nonsense)	not provided +8 more	GPathogenic
Select item 4159	NM_130806.5(RXFP2):c.664A>C (p.Thr222Pro)	RXFP2 (T222P)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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: 37