ClinVar for MedGen (Select 181756) - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1802172	NM_000243.3(MEFV):c.[2080A>G];[2177T>C]			Familial Mediterranean fever	GPathogenic
Select item 1077144	NM_015412.4(NEPRO):c.1168G>A (p.Ala390Thr)	NEPRO (A187T +6 more)	Single nucleotide variant (missense variant +1 more)	Abnormal cerebral white matter morphology +1 more	GUncertain significance
Select item 1077143	NM_015412.4(NEPRO):c.1529G>T (p.Gly510Val)	NEPRO (G307V +6 more)	Single nucleotide variant (missense variant +1 more)	Abnormal cerebral white matter morphology +1 more	GUncertain significance
Select item 978556	NM_001127671.2(LIFR):c.1886-9T>A	LIFR	Single nucleotide variant (intron variant)	Absent speech +5 more	GUncertain significance
Select item 870382	NM_021956.5(GRIK2):c.1979C>A (p.Thr660Lys)	GRIK2 (T660K)	Single nucleotide variant (missense variant)	GRIK2-related neurodevelopmental disorder	GPathogenic
Select item 812988	NC_000002.12:g.201705201del	ALS2	Deletion (genic downstream transcript variant)	Global developmental delay +5 more	GLikely pathogenic
Select item 812791	NM_001372044.2(SHANK3):c.1797C>A (p.Cys599Ter)	SHANK3 (C599*)	Single nucleotide variant (nonsense)	Abnormal cerebral white matter morphology +3 more	GLikely pathogenic
Select item 812775	NM_002150.3(HPD):c.1049T>C (p.Val350Ala)	HPD (V350A +1 more)	Single nucleotide variant (missense variant)	Global developmental delay +5 more	GLikely pathogenic
Select item 812745	NM_000435.3(NOTCH3):c.634T>C (p.Cys212Arg)	NOTCH3 (C212R)	Single nucleotide variant (missense variant)	Migraine +6 more	GPathogenic
Select item 812743	NM_000435.3(NOTCH3):c.1162T>C (p.Cys388Arg)	NOTCH3 (C388R)	Single nucleotide variant (missense variant)	Abnormal cerebral white matter morphology +1 more	GLikely pathogenic
Select item 599006	NM_000252.3(MTM1):c.1262G>T (p.Arg421Leu)	MTM1 (R421L +1 more)	Single nucleotide variant (missense variant)	not provided +14 more	GPathogenic/Likely pathogenic
Select item 599002	NM_005654.6(NR2F1):c.265T>C (p.Cys89Arg)	NR2F1, NR2F1-AS1 (C89R)	Single nucleotide variant (missense variant)	Polyphagia +12 more	GUncertain significance
Select item 598977	NM_001849.4(COL6A2):c.2008A>G (p.Thr670Ala)	COL6A2 (T670A)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +13 more	GUncertain significance
Select item 598970	NM_003907.3(EIF2B5):c.943C>T (p.Arg315Cys)	EIF2B5 (R315C)	Single nucleotide variant (missense variant)	See cases +6 more	GPathogenic
Select item 598967	NM_001379451.1(BCORL1):c.532A>G (p.Thr178Ala)	BCORL1 (T178A)	Single nucleotide variant (missense variant)	Stereotypic movement disorder +22 more	GUncertain significance
Select item 598959	NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln)	CREBBP (R1868Q +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome +12 more	GPathogenic/Likely pathogenic
Select item 598958	NM_000393.5(COL5A2):c.1842G>A (p.Met614Ile)	COL5A2 (M614I)	Single nucleotide variant (missense variant)	High palate +9 more	GUncertain significance
Select item 598948	NM_001365999.1(SZT2):c.5025-2A>G	SZT2	Single nucleotide variant (splice acceptor variant)	See cases +8 more	GLikely pathogenic
Select item 562001	NM_005548.3(KARS1):c.787T>G (p.Phe263Val)	KARS1 (F291V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 523516	NM_015922.3(NSDHL):c.790-5G>T	NSDHL	Single nucleotide variant (intron variant)	Unilateral polymicrogyria +3 more	GUncertain significance
Select item 402130	NM_138615.3(DHX30):c.1685A>G (p.His562Arg)	DHX30 (H562R +2 more)	Single nucleotide variant (missense variant)	Global developmental delay +6 more	GPathogenic
Select item 386521	NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met)	CACNA1A (T2043M +3 more)	Single nucleotide variant (missense variant)	CACNA1A-related disorder +18 more	GConflicting classifications of pathogenicity
Select item 372895	NM_001365999.1(SZT2):c.6120_6122del (p.Val2041del)	SZT2 (V1984del +1 more)	Deletion (inframe_deletion)	Macrocephaly +10 more	GPathogenic/Likely pathogenic
Select item 267832	46;XX;t(1;5)(p31;q33)dn		Translocation	Short philtrum +13 more	GLikely pathogenic
Select item 242893	Single allele	RPS6KC1	Deletion	Periventricular leukomalacia +5 more	GLikely pathogenic
Select item 242892	NM_012424.6(RPS6KC1):c.2710G>A (p.Gly904Ser)	RPS6KC1 (G692S +8 more)	Single nucleotide variant (missense variant +1 more)	Periventricular leukomalacia +5 more	GLikely pathogenic
Select item 224983	NM_005548.3(KARS1):c.599C>T (p.Pro200Leu)	KARS1 (P200L +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease recessive intermediate B +7 more	GPathogenic/Likely pathogenic
Select item 200987	NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser)	MEN1 (P540S +3 more)	Single nucleotide variant (missense variant)	Leukodystrophy +7 more	GConflicting classifications of pathogenicity
Select item 137622	NM_022168.4(IFIH1):c.2336G>A (p.Arg779His)	IFIH1 (R779H)	Single nucleotide variant (missense variant)	Immunodeficiency 95 +10 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)	Cryptorchidism +13 more	GConflicting classifications of pathogenicity
Select item 52953	NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)	KCNQ1 (K362R +2 more)	Single nucleotide variant (missense variant)	KCNQ1-Related Disorders +23 more	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)	Acute febrile neutrophilic dermatosis +24 more	GPathogenic/Likely pathogenic

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Items: 32