"PreventionGenetics, part of Exact Sciences"[submitter] AND "SLC34A1"[ - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 352956	NM_003052.5(SLC34A1):c.223C>T (p.Pro75Ser)	SLC34A1 (P75S)	Single nucleotide variant (missense variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1 +2 more	GBenign
Select item 252613	NM_003052.5(SLC34A1):c.284G>A (p.Arg95His)	SLC34A1 (R95H)	Single nucleotide variant (missense variant)	SLC34A1-related disorder +3 more	GBenign/Likely benign
Select item 3061331	NM_003052.5(SLC34A1):c.365G>T (p.Ser122Ile)	SLC34A1 (S122I)	Single nucleotide variant (missense variant)	SLC34A1-related disorder	GUncertain significance
Select item 352960	NM_003052.5(SLC34A1):c.398C>T (p.Ala133Val)	SLC34A1 (A133V)	Single nucleotide variant (missense variant)	not provided +4 more	GLikely benign
Select item 1050980	NM_003052.5(SLC34A1):c.580G>A (p.Gly194Ser)	SLC34A1 (G194S)	Single nucleotide variant (missense variant)	Fanconi renotubular syndrome 2 +4 more	GUncertain significance
Select item 2634677	NM_003052.5(SLC34A1):c.620C>T (p.Ala207Val)	SLC34A1 (A207V)	Single nucleotide variant (missense variant)	SLC34A1-related disorder	GUncertain significance
Select item 234926	NM_003052.5(SLC34A1):c.644+1G>A	SLC34A1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 2628632	NM_003052.5(SLC34A1):c.649T>C (p.Phe217Leu)	SLC34A1 (F217L)	Single nucleotide variant (missense variant)	SLC34A1-related disorder	GUncertain significance
Select item 352966	NM_003052.5(SLC34A1):c.782G>A (p.Arg261His)	SLC34A1 (R261H)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2632132	NM_003052.5(SLC34A1):c.936+1307G>A	LOC110121284, SLC34A1 (R326H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 747905	NM_003052.5(SLC34A1):c.1038G>A (p.Pro346=)	SLC34A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1670224	NM_003052.5(SLC34A1):c.1227C>T (p.Gly409=)	SLC34A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2632871	NM_003052.5(SLC34A1):c.1271C>T (p.Ser424Leu)	SLC34A1 (S424L)	Single nucleotide variant (missense variant)	SLC34A1-related disorder	GUncertain significance
Select item 2636868	NM_003052.5(SLC34A1):c.1273G>C (p.Ala425Pro)	SLC34A1 (A425P)	Single nucleotide variant (missense variant)	SLC34A1-related disorder	GUncertain significance
Select item 1557006	NM_003052.5(SLC34A1):c.1359C>T (p.Thr453=)	SLC34A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3030061	NM_003052.5(SLC34A1):c.1451G>A (p.Gly484Asp)	SLC34A1 (G484D)	Single nucleotide variant (missense variant)	SLC34A1-related disorder	GUncertain significance
Select item 2631139	NM_003052.5(SLC34A1):c.1706T>G (p.Leu569Arg)	SLC34A1 (L569R)	Single nucleotide variant (missense variant)	SLC34A1-related disorder	GUncertain significance
Select item 988206	NM_003052.5(SLC34A1):c.1715G>A (p.Trp572Ter)	SLC34A1 (W572*)	Single nucleotide variant (nonsense)	SLC34A1-related disorder +1 more	GUncertain significance
Select item 548679	NM_003052.5(SLC34A1):c.1724C>T (p.Thr575Ile)	SLC34A1 (T575I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1625875	NM_003052.5(SLC34A1):c.1880G>A (p.Arg627His)	SLC34A1 (R627H)	Single nucleotide variant (missense variant)	SLC34A1-related disorder +1 more	GLikely benign
Select item 352986	NM_000505.4(F12):c.1342C>T (p.Arg448Cys)	F12, SLC34A1 (R448C)	Single nucleotide variant (missense variant)	Hereditary angioneurotic edema +5 more	GBenign/Likely benign
Select item 256309	NM_000505.4(F12):c.1251-9C>T	F12, SLC34A1	Single nucleotide variant (intron variant)	Hereditary angioneurotic edema +5 more	GBenign

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Items: 22