ClinVar for MedGen (Select 863979) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064930	NM_016356.5(DCDC2):c.349-1G>T	DCDC2	Single nucleotide variant (splice acceptor variant)	Nephronophthisis 19	GUncertain significance
Select item 3064383	NM_016356.5(DCDC2):c.698C>T (p.Pro233Leu)	DCDC2 (P233L)	Single nucleotide variant (missense variant)	Nephronophthisis 19	GUncertain significance
Select item 3064075	NM_016356.5(DCDC2):c.901C>T (p.Gln301Ter)	DCDC2 (Q301*)	Single nucleotide variant (nonsense)	Nephronophthisis 19	GLikely pathogenic
Select item 1687593	NM_016356.5(DCDC2):c.557+1G>T	DCDC2	Single nucleotide variant (splice donor variant)	Nephronophthisis 19	GPathogenic
Select item 1622660	NM_016356.5(DCDC2):c.923-18G>A	DCDC2	Single nucleotide variant (intron variant)	Isolated neonatal sclerosing cholangitis +2 more	GLikely benign
Select item 1586785	NM_016356.5(DCDC2):c.349-16dup	DCDC2	Duplication (intron variant)	Autosomal recessive nonsyndromic hearing loss 66 +2 more	GBenign/Likely benign
Select item 1546124	NM_016356.5(DCDC2):c.349-15C>T	DCDC2	Single nucleotide variant (intron variant)	Nephronophthisis 19 +2 more	GLikely benign
Select item 1338443	NM_016356.5(DCDC2):c.840AGA[1] (p.Glu281del)	DCDC2 (E281del)	Microsatellite (inframe_deletion)	Isolated neonatal sclerosing cholangitis +4 more	GUncertain significance
Select item 1255459	NM_016356.5(DCDC2):c.426-13C>T	DCDC2	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 66 +3 more	GBenign
Select item 1230061	NM_016356.5(DCDC2):c.*3C>G	DCDC2	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 1035839	NM_016356.5(DCDC2):c.685A>G (p.Thr229Ala)	DCDC2 (T229A)	Single nucleotide variant (missense variant)	Nephronophthisis 19 +2 more	GUncertain significance
Select item 1033408	NM_016356.5(DCDC2):c.278C>A (p.Ala93Asp)	DCDC2, KAAG1 (A93D)	Single nucleotide variant (missense variant)	Isolated neonatal sclerosing cholangitis +2 more	GUncertain significance
Select item 917935	NM_016356.5(DCDC2):c.223_293del (p.Arg75fs)	DCDC2, KAAG1 (R75fs)	Deletion (frameshift variant)	Nephronophthisis 19	GLikely pathogenic
Select item 838322	NM_016356.5(DCDC2):c.349G>A (p.Val117Ile)	DCDC2 (V117I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 804454	NM_016356.5(DCDC2):c.549dup (p.Val184fs)	DCDC2 (V184fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 66 +2 more	GLikely pathogenic
Select item 596110	NM_016356.5(DCDC2):c.1066G>A (p.Ala356Thr)	DCDC2 (A356T)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 595556	NM_016356.5(DCDC2):c.770G>A (p.Arg257His)	DCDC2 (R257H)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 595293	NM_016356.5(DCDC2):c.965G>C (p.Arg322Pro)	DCDC2 (R322P)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 595088	NM_016356.5(DCDC2):c.970dup (p.Ala324fs)	DCDC2 (A324fs)	Duplication (frameshift variant)	DCDC2-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 594819	NM_016356.5(DCDC2):c.151G>C (p.Val51Leu)	DCDC2, KAAG1 (V51L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 594461	NM_016356.5(DCDC2):c.1364T>C (p.Val455Ala)	DCDC2 (V455A)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 523063	NM_016356.5(DCDC2):c.769C>T (p.Arg257Cys)	DCDC2 (R257C)	Single nucleotide variant (missense variant)	Nephronophthisis 19 +2 more	GUncertain significance
Select item 517825	NM_016356.5(DCDC2):c.1017C>T (p.Val339=)	DCDC2	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 66 +3 more	GBenign
Select item 516888	NM_016356.5(DCDC2):c.661A>G (p.Ser221Gly)	DCDC2 (S221G)	Single nucleotide variant (missense variant)	Nephronophthisis 19 +3 more	GBenign
Select item 514414	NM_016356.5(DCDC2):c.478A>C (p.Arg160=)	DCDC2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 502792	NM_016356.5(DCDC2):c.445C>T (p.Leu149Phe)	DCDC2 (L149F)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 501471	NM_016356.5(DCDC2):c.942del (p.Gly315fs)	DCDC2 (G315fs)	Deletion (frameshift variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 501347	NM_016356.5(DCDC2):c.383C>G (p.Ser128Ter)	DCDC2 (S128*)	Single nucleotide variant (nonsense)	Nephronophthisis 19 +3 more	GPathogenic/Likely pathogenic
Select item 466327	NM_016356.5(DCDC2):c.855A>G (p.Ser285=)	DCDC2	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 66 +4 more	GBenign/Likely benign
Select item 466321	NM_016356.5(DCDC2):c.1044C>T (p.Asp348=)	DCDC2	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 66 +4 more	GBenign/Likely benign
Select item 417768	NM_016356.5(DCDC2):c.890T>A (p.Leu297Ter)	DCDC2 (L297*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 66 +2 more	GPathogenic
Select item 180689	NM_016356.5(DCDC2):c.349-2A>G	DCDC2	Single nucleotide variant (splice acceptor variant)	Nephronophthisis 19 +3 more	GPathogenic
Select item 180688	NM_016356.5(DCDC2):c.123_124del (p.Ser42fs)	DCDC2, KAAG1 (S42fs)	Microsatellite (frameshift variant)	Dyslexia, susceptibility to, 2 +3 more	GPathogenic
Select item 180687	NM_016356.5(DCDC2):c.649A>T (p.Lys217Ter)	DCDC2 (K217*)	Single nucleotide variant (nonsense)	Isolated neonatal sclerosing cholangitis +1 more	GPathogenic

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Items: 34