ClinVar for MedGen (Select 410078) - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2575233	NM_001317778.2(SFTPC):c.134T>C (p.Leu45Pro)	SFTPC (L45P)	Single nucleotide variant (missense variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 2	GUncertain significance
Select item 2501714	NM_001317778.2(SFTPC):c.289G>C (p.Gly97Arg)	SFTPC (G44R +1 more)	Single nucleotide variant (missense variant)	Surfactant metabolism dysfunction, pulmonary, 2	GUncertain significance
Select item 2435887	NM_001317778.2(SFTPC):c.455C>T (p.Thr152Met)	SFTPC (T105M +2 more)	Single nucleotide variant (missense variant)	Surfactant metabolism dysfunction, pulmonary, 2	GUncertain significance
Select item 2435886	NM_001317778.2(SFTPC):c.150T>G (p.Ile50Met)	SFTPC (I50M)	Single nucleotide variant (missense variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 2	GUncertain significance
Select item 1705679	NM_001317778.2(SFTPC):c.187A>G (p.Lys63Glu)	SFTPC (K63E)	Single nucleotide variant (missense variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 2	GUncertain significance
Select item 1700691	NM_001317778.2(SFTPC):c.192C>G (p.His64Gln)	SFTPC (H64Q)	Single nucleotide variant (missense variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 2	GLikely pathogenic
Select item 1333368	NM_001317778.2(SFTPC):c.314A>T (p.Asp105Val)	SFTPC (D105V +1 more)	Single nucleotide variant (missense variant)	Surfactant metabolism dysfunction, pulmonary, 2	GLikely pathogenic
Select item 1331721	NM_001317778.2(SFTPC):c.158_190dup (p.Lys63_His64insProLeuLeuMetGlyLeuHisMetSerGlnLys)	SFTPC	Duplication (inframe_insertion +1 more)	Surfactant metabolism dysfunction, pulmonary, 2	GUncertain significance
Select item 1280586	NM_001317778.2(SFTPC):c.201+49C>A	SFTPC	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 2 +1 more	GBenign
Select item 1272642	NM_001317778.2(SFTPC):c.43-21T>C	SFTPC	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 2 +1 more	GBenign
Select item 1271469	NM_001317778.2(SFTPC):c.*19-39dup	SFTPC	Duplication (3 prime UTR variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 2 +1 more	GBenign
Select item 1065347	NM_001317778.2(SFTPC):c.444del (p.Ala149fs)	SFTPC (A102fs +2 more)	Deletion (frameshift variant)	Surfactant metabolism dysfunction, pulmonary, 2	GLikely pathogenic
Select item 978452	NM_001317778.2(SFTPC):c.548G>A (p.Cys183Tyr)	SFTPC (C136Y +2 more)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis +1 more	GConflicting classifications of pathogenicity
Select item 911270	NM_001317778.2(SFTPC):c.445G>T (p.Ala149Ser)	SFTPC (A149S +2 more)	Single nucleotide variant (missense variant)	Interstitial lung disease 2 +1 more	GUncertain significance
Select item 911206	NM_001317778.2(SFTPC):c.157G>A (p.Ala53Thr)	SFTPC (A53T)	Single nucleotide variant (missense variant +1 more)	Interstitial lung disease 2 +2 more	GConflicting classifications of pathogenicity
Select item 909348	NM_001317778.2(SFTPC):c.*186G>A	SFTPC	Single nucleotide variant (3 prime UTR variant)	Interstitial lung disease 2 +1 more	GUncertain significance
Select item 909206	NM_001317778.2(SFTPC):c.68G>A (p.Arg23Gln)	SFTPC (R23Q)	Single nucleotide variant (missense variant +1 more)	Hereditary pulmonary alveolar proteinosis +3 more	GBenign/Likely benign
Select item 908497	NM_001317778.2(SFTPC):c.*171G>A	SFTPC	Single nucleotide variant (3 prime UTR variant)	Surfactant metabolism dysfunction, pulmonary, 2 +1 more	GLikely benign
Select item 908426	NM_001317778.2(SFTPC):c.303C>T (p.Leu101=)	SFTPC	Single nucleotide variant (synonymous variant)	Surfactant metabolism dysfunction, pulmonary, 2 +1 more	GBenign
Select item 908425	NM_001317778.2(SFTPC):c.237G>A (p.Gln79=)	SFTPC	Single nucleotide variant (synonymous variant)	Surfactant metabolism dysfunction, pulmonary, 2 +1 more	GUncertain significance
Select item 693987	NM_001317778.2(SFTPC):c.410T>A (p.Leu137His)	SFTPC (L84H +1 more)	Single nucleotide variant (missense variant)	Surfactant metabolism dysfunction, pulmonary, 2	GUncertain significance
Select item 521813	NM_001317778.2(SFTPC):c.397A>C (p.Ser133Arg)	SFTPC (S133R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 362574	NM_006129.4(BMP1):c.-126G>A	BMP1, LOC129999976 +1 more	Single nucleotide variant	Osteogenesis Imperfecta, Recessive +2 more	GUncertain significance
Select item 362571	NM_001317778.2(SFTPC):c.*193C>A	SFTPC	Single nucleotide variant (3 prime UTR variant)	Interstitial lung disease 2 +1 more	GUncertain significance
Select item 362570	NM_001317778.2(SFTPC):c.*174G>A	BMP1, SFTPC	Single nucleotide variant (3 prime UTR variant)	Pulmonary Surfactant Metabolism Dysfunction, Dominant +3 more	GBenign
Select item 362569	NM_001317778.2(SFTPC):c.*173C>T	BMP1, SFTPC	Single nucleotide variant (3 prime UTR variant)	Pulmonary Surfactant Metabolism Dysfunction, Dominant +3 more	GBenign/Likely benign
Select item 362568	NM_001317778.2(SFTPC):c.*123G>A	BMP1, SFTPC	Single nucleotide variant (3 prime UTR variant)	Pulmonary Surfactant Metabolism Dysfunction, Dominant +3 more	GBenign
Select item 362567	NM_001317778.2(SFTPC):c.*36A>G	BMP1, SFTPC	Single nucleotide variant (3 prime UTR variant)	Pulmonary Surfactant Metabolism Dysfunction, Dominant +3 more	GBenign/Likely benign
Select item 362566	NM_001317778.2(SFTPC):c.18+13G>A	SFTPC	Single nucleotide variant (intron variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 2 +1 more	GBenign
Select item 362565	NM_001317778.2(SFTPC):c.18+12G>A	SFTPC	Single nucleotide variant (3 prime UTR variant +1 more)	Interstitial lung disease 2 +1 more	GBenign
Select item 362564	NM_001317778.2(SFTPC):c.*12T>A	SFTPC	Single nucleotide variant (3 prime UTR variant +1 more)	Interstitial lung disease 2 +3 more	GConflicting classifications of pathogenicity
Select item 362563	NM_001317778.2(SFTPC):c.552C>T (p.Gly184=)	SFTPC	Single nucleotide variant (synonymous variant)	Interstitial lung disease 2 +2 more	GBenign/Likely benign
Select item 362562	NM_001317778.2(SFTPC):c.523C>G (p.Leu175Val)	SFTPC (L181V +2 more)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis +3 more	GConflicting classifications of pathogenicity
Select item 362561	NM_001317778.2(SFTPC):c.505G>A (p.Gly169Arg)	SFTPC (G175R +2 more)	Single nucleotide variant (missense variant)	Surfactant metabolism dysfunction, pulmonary, 2 +1 more	GUncertain significance
Select item 362560	NM_001317778.2(SFTPC):c.445G>C (p.Ala149Pro)	SFTPC (A155P +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 362559	NM_001317778.2(SFTPC):c.436-15G>A	SFTPC (E147K +1 more)	Single nucleotide variant (missense variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 2 +1 more	GUncertain significance
Select item 362558	NM_001317778.2(SFTPC):c.351T>G (p.Pro117=)	SFTPC	Single nucleotide variant (synonymous variant)	Hereditary pulmonary alveolar proteinosis +3 more	GBenign/Likely benign
Select item 362557	NM_001317778.2(SFTPC):c.288C>T (p.Ile96=)	SFTPC	Single nucleotide variant (synonymous variant)	SFTPC-related condition +4 more	GBenign/Likely benign
Select item 362556	NM_001317778.2(SFTPC):c.228G>C (p.Pro76=)	SFTPC	Single nucleotide variant (synonymous variant)	Surfactant metabolism dysfunction, pulmonary, 2 +4 more	GBenign
Select item 362555	NM_001317778.2(SFTPC):c.228G>A (p.Pro76=)	SFTPC	Single nucleotide variant (synonymous variant)	Interstitial lung disease 2 +2 more	GBenign/Likely benign
Select item 362554	NM_001317778.2(SFTPC):c.176A>G (p.His59Arg)	SFTPC (H59R)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 362553	NM_001317778.2(SFTPC):c.142G>A (p.Val48Met)	SFTPC (V48M)	Single nucleotide variant (missense variant +1 more)	Interstitial lung disease 2 +1 more	GLikely benign
Select item 362552	NM_001317778.2(SFTPC):c.43-7G>A	SFTPC	Single nucleotide variant (intron variant)	Hereditary pulmonary alveolar proteinosis +5 more	GBenign/Likely benign
Select item 362551	NM_001317778.2(SFTPC):c.42G>A (p.Pro14=)	SFTPC	Single nucleotide variant (synonymous variant)	Surfactant metabolism dysfunction, pulmonary, 2 +3 more	GConflicting classifications of pathogenicity
Select item 362550	NM_001317778.2(SFTPC):c.24C>G (p.Val8=)	SFTPC	Single nucleotide variant (synonymous variant)	Pulmonary Surfactant Metabolism Dysfunction, Dominant +4 more	GBenign/Likely benign
Select item 362547	NM_003018.3(SFTPC):c.-67C>T	SFTPC	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 2 +1 more	GLikely benign
Select item 362546	NM_003018.3(SFTPC):c.-91C>T	SFTPC	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 2 +1 more	GBenign
Select item 362545	NM_003018.3(SFTPC):c.-92C>G	SFTPC	Single nucleotide variant (intron variant)	Interstitial lung disease 2 +1 more	GBenign
Select item 362544	NM_003018.3(SFTPC):c.-134G>C	SFTPC, BMP1	Single nucleotide variant (intron variant)	Osteogenesis Imperfecta, Recessive +4 more	GBenign/Likely benign
Select item 235391	NM_001317778.2(SFTPC):c.115G>A (p.Val39Met)	SFTPC (V39M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 225466	NM_001317778.2(SFTPC):c.115G>T (p.Val39Leu)	SFTPC (V39L)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 165212	NM_001317778.2(SFTPC):c.539G>A (p.Ser180Asn)	BMP1, SFTPC (S186N +2 more)	Single nucleotide variant (missense variant)	Osteogenesis Imperfecta, Recessive +6 more	GBenign
Select item 165211	NM_001317778.2(SFTPC):c.436-26C>G	BMP1, SFTPC	Single nucleotide variant (intron variant)	Osteogenesis Imperfecta, Recessive +5 more	GBenign
Select item 165210	NM_001317778.2(SFTPC):c.413C>A (p.Thr138Asn)	BMP1, SFTPC (T138N +1 more)	Single nucleotide variant (missense variant)	Osteogenesis Imperfecta, Recessive +6 more	GBenign/Likely benign
Select item 165209	NM_001317778.2(SFTPC):c.201+14G>A	BMP1, SFTPC	Single nucleotide variant (intron variant)	Osteogenesis Imperfecta, Recessive +5 more	GBenign/Likely benign
Select item 48611	NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter)	USH2A (W2994*)	Single nucleotide variant (nonsense)	Rare genetic deafness +6 more	GPathogenic/Likely pathogenic
Select item 13214	NM_001317778.2(SFTPC):c.563T>C (p.Leu188Pro)	SFTPC (L194P +2 more)	Single nucleotide variant (missense variant)	Surfactant metabolism dysfunction, pulmonary, 2	GPathogenic
Select item 13213	NM_001317778.2(SFTPC):c.196G>A (p.Glu66Lys)	SFTPC (E66K)	Single nucleotide variant (missense variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 2	GPathogenic
Select item 13212	NM_001317778.2(SFTPC):c.347C>A (p.Ala116Asp)	SFTPC (A116D +1 more)	Single nucleotide variant (missense variant)	Surfactant metabolism dysfunction, pulmonary, 2	GPathogenic
Select item 13211	NM_001317778.2(SFTPC):c.435+1G>T	SFTPC	Single nucleotide variant (splice donor variant)	Surfactant metabolism dysfunction, pulmonary, 2	GPathogenic
Select item 13210	NM_001317778.2(SFTPC):c.545T>A (p.Leu182Gln)	SFTPC (L188Q +2 more)	Single nucleotide variant (missense variant)	Surfactant metabolism dysfunction, pulmonary, 2	GPathogenic
Select item 13209	NM_001317778.2(SFTPC):c.482G>A (p.Arg161Gln)	SFTPC (R167Q +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 13208	NM_001317778.2(SFTPC):c.218T>C (p.Ile73Thr)	SFTPC (I73T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 13207	NM_001317778.2(SFTPC):c.435+1G>A	SFTPC	Single nucleotide variant (splice donor variant)	Surfactant metabolism dysfunction, pulmonary, 2	GPathogenic

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Items: 64