ClinVar for MedGen (Select 1788738) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 972895	NM_012387.3(PADI4):c.335G>C (p.Gly112Ala)	PADI4 (G112A)	Single nucleotide variant (missense variant)	PADI4-related disorder	GBenign
Select item 972894	NM_012387.3(PADI4):c.349T>C (p.Leu117=)	PADI4	Single nucleotide variant (synonymous variant)	PADI4-related disorder	GBenign
Select item 972893	NM_012387.3(PADI4):c.245T>C (p.Val82Ala)	PADI4 (V82A)	Single nucleotide variant (missense variant)	PADI4-related disorder	GBenign
Select item 972892	NM_012387.3(PADI4):c.163G>A (p.Gly55Ser)	PADI4 (G55S)	Single nucleotide variant (missense variant)	PADI4-related disorder	GBenign
Select item 972891	NM_007365.3(PADI2):c.92+1006C>A	PADI2	Single nucleotide variant (intron variant)	Rheumatoid arthritis +1 more	Gassociation
Select item 972890	NM_007365.3(PADI2):c.729T>G (p.Gly243=)	PADI2	Single nucleotide variant (synonymous variant)	Rheumatoid arthritis +1 more	Gassociation
Select item 972889	NM_007365.3(PADI2):c.1159-39G>A	PADI2	Single nucleotide variant (intron variant)	Rheumatoid arthritis +1 more	Gassociation
Select item 972888	NM_007365.3(PADI2):c.*258A>T	PADI2	Single nucleotide variant (3 prime UTR variant)	Rheumatoid arthritis +1 more	Gassociation
Select item 916674	NM_198253.3(TERT):c.2812C>T (p.Arg938Trp)	TERT (R938W)	Single nucleotide variant (missense variant +1 more)	Premature graying of hair +7 more	GLikely pathogenic
Select item 916671	NM_198253.3(TERT):c.230T>C (p.Leu77Pro)	LOC110806263, TERT (L77P)	Single nucleotide variant (missense variant +1 more)	Abnormal pulmonary interstitial morphology +3 more	GConflicting classifications of pathogenicity
Select item 916632	NM_198253.3(TERT):c.347C>T (p.Thr116Ile)	TERT (T116I)	Single nucleotide variant (missense variant +1 more)	Short telomere length +2 more	GLikely pathogenic
Select item 884833	NM_001089.3(ABCA3):c.2539A>G (p.Met847Val)	ABCA3 (M847V)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency +2 more	GUncertain significance
Select item 599008	NM_001308093.3(GATA4):c.94G>C (p.Ala32Pro)	GATA4 (A32P)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4 +11 more	GUncertain significance
Select item 599007	NM_006494.4(ERF):c.1636C>T (p.Arg546Ter)	ERF (R546* +1 more)	Single nucleotide variant (nonsense)	Atrial septal defect +11 more	GUncertain significance
Select item 598978	NM_001317778.2(SFTPC):c.163C>T (p.Leu55Phe)	SFTPC (L55F)	Single nucleotide variant (missense variant +1 more)	Myopathy +14 more	GLikely pathogenic
Select item 167818	NM_138959.3(VANGL1):c.523C>T (p.Arg175Trp)	VANGL1 (R175W +1 more)	Single nucleotide variant (missense variant)	Sacral defect with anterior meningocele +18 more	GConflicting classifications of pathogenicity
Select item 44261	NM_001927.4(DES):c.407T>A (p.Leu136His)	DES (L136H)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1I +20 more	GUncertain significance
Select item 5302	NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)	TNFRSF13B (C104R)	Single nucleotide variant (missense variant)	TNFRSF13B-related disorder +23 more	GConflicting classifications of pathogenicity; risk factor
Select item 400	NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys)	INPP5E (R378C)	Single nucleotide variant (missense variant)	INPP5E-related disorder +20 more	GPathogenic/Likely pathogenic