Related gene-specific medical variations for Gene (Select 6569) - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065431	NM_003052.5(SLC34A1):c.608C>A (p.Ala203Asp)	SLC34A1 (A203D)	Single nucleotide variant (missense variant)	Hypercalcemia, infantile, 2	GUncertain significance
Select item 2690703	NM_003052.5(SLC34A1):c.1484G>A (p.Arg495His)	SLC34A1 (R495H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2632132	NM_003052.5(SLC34A1):c.936+1307G>A	LOC110121284, SLC34A1 (R326H)	Single nucleotide variant (missense variant +1 more)	SLC34A1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2443589	NM_000505.4(F12):c.1354G>A (p.Ala452Thr)	F12, SLC34A1 (A452T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2409724	NM_000505.4(F12):c.475G>A (p.Ala159Thr)	SLC34A1, F12 (A159T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400906	NM_000505.4(F12):c.340C>G (p.Pro114Ala)	SLC34A1, F12 (P114A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356095	NM_001029886.3(PFN3):c.226G>C (p.Asp76His)	SLC34A1, PFN3 (D76H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351540	NM_001029886.3(PFN3):c.40G>C (p.Asp14His)	SLC34A1, PFN3 (D14H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335220	NM_000505.4(F12):c.1634G>A (p.Gly545Asp)	SLC34A1, F12 (G545D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331332	NM_000505.4(F12):c.1073G>T (p.Ser358Ile)	F12, SLC34A1 (S358I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301627	NM_001029886.3(PFN3):c.40G>A (p.Asp14Asn)	PFN3, SLC34A1 (D14N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276981	NM_000505.4(F12):c.1474G>A (p.Ala492Thr)	SLC34A1, F12 (A492T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263195	NM_000505.4(F12):c.1418G>A (p.Gly473Asp)	F12, SLC34A1 (G473D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260130	NM_001029886.3(PFN3):c.188G>T (p.Gly63Val)	PFN3, SLC34A1 (G63V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256450	NM_000505.4(F12):c.229C>T (p.Pro77Ser)	SLC34A1, F12 (P77S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239726	NM_000505.4(F12):c.1064G>T (p.Gly355Val)	SLC34A1, F12 (G355V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239522	NM_000505.4(F12):c.1025C>G (p.Pro342Arg)	F12, SLC34A1 (P342R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2181485	NM_000505.4(F12):c.359T>A (p.Leu120His)	SLC34A1, F12 (L120H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1703830	NM_000505.4(F12):c.1256C>T (p.Ala419Val)	F12, SLC34A1 (A419V)	Single nucleotide variant (missense variant)	Thrombus	GUncertain significance
Select item 1325085	NM_003052.5(SLC34A1):c.1467C>A (p.Tyr489Ter)	SLC34A1 (Y489*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1036898	NM_000505.4(F12):c.1668del (p.Asp557fs)	F12, SLC34A1 (D557fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 762590	NM_000505.4(F12):c.144C>T (p.His48=)	F12, SLC34A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 591904	NM_003052.5(SLC34A1):c.1325C>A (p.Pro442Gln)	SLC34A1 (P442Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591572	NM_003052.5(SLC34A1):c.1363G>A (p.Ala455Thr)	SLC34A1 (A455T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 161606	NM_003052.5(SLC34A1):c.13G>A (p.Gly5Arg)	SLC34A1 (G5R)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 64523	NM_003052.5(SLC34A1):c.1912C>T (p.Arg638Cys)	SLC34A1 (R638C)	Single nucleotide variant (missense variant)	Hypercalcemia, infantile, 2 +2 more	GUncertain significance
Select item 64522	NM_003052.5(SLC34A1):c.1739C>A (p.Pro580His)	SLC34A1 (P580H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64521	NM_003052.5(SLC34A1):c.1707G>T (p.Leu569=)	SLC34A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 64520	NM_003052.5(SLC34A1):c.1432T>C (p.Phe478Leu)	SLC34A1 (F478L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64494	NM_003052.5(SLC34A1):c.660C>G (p.Ala220=)	SLC34A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1169	NM_000505.4(F12):c.983C>A (p.Thr328Lys)	F12, SLC34A1 (T328K)	Single nucleotide variant (missense variant)	Hereditary angioedema type 3 +3 more	GPathogenic
Select item 1165	NM_000505.4(F12):c.1115G>C (p.Arg372Pro)	SLC34A1, F12 (R372P)	Single nucleotide variant (missense variant)	FACTOR XII (LOCARNO)	GPathogenic
Select item 1164	NM_000505.4(F12):c.1768T>A (p.Cys590Ser)	SLC34A1, F12 (C590S)	Single nucleotide variant (missense variant)	FACTOR XII (WASHINGTON D.C.)	GPathogenic

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Items: 33