ClinVar for MedGen (Select 9229) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 590291	NM_000301.5(PLG):c.988A>G (p.Lys330Glu)	PLG (K330E)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 369463	NM_000505.4(F12):c.-62C>T	F12	Single nucleotide variant	Hereditary angioneurotic edema +2 more	GLikely benign
Select item 369462	NM_000505.3(F12):c.-57G>C	F12	Single nucleotide variant	Hereditary angioneurotic edema +4 more	GConflicting classifications of pathogenicity
Select item 352989	NM_000505.4(F12):c.1251-7C>T	F12, SLC34A1	Single nucleotide variant (intron variant)	Nephrolithiasis/osteoporosis, hypophosphatemic +3 more	GLikely benign
Select item 352988	NM_000505.4(F12):c.1272G>C (p.Thr424=)	F12, SLC34A1	Single nucleotide variant (synonymous variant)	Factor XII deficiency disease +4 more	GBenign/Likely benign
Select item 352987	NM_000505.4(F12):c.1299C>T (p.Asn433=)	F12, SLC34A1	Single nucleotide variant (synonymous variant)	Hereditary angioneurotic edema +4 more	GBenign/Likely 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 352985	NM_003052.5(SLC34A1):c.*485G>A	F12, SLC34A1	Single nucleotide variant (3 prime UTR variant)	Nephrolithiasis/osteoporosis, hypophosphatemic +3 more	GBenign/Likely benign
Select item 352983	NM_003052.5(SLC34A1):c.*361T>C	F12, SLC34A1	Single nucleotide variant (3 prime UTR variant)	Nephrolithiasis/osteoporosis, hypophosphatemic +3 more	GBenign/Likely benign
Select item 352980	NM_003052.5(SLC34A1):c.*202A>C	F12, SLC34A1	Single nucleotide variant (3 prime UTR variant)	Nephrolithiasis/osteoporosis, hypophosphatemic +4 more	GBenign
Select item 352979	NM_003052.5(SLC34A1):c.*179G>A	F12, SLC34A1	Single nucleotide variant (3 prime UTR variant)	Nephrolithiasis/osteoporosis, hypophosphatemic +3 more	GBenign/Likely benign
Select item 352976	NM_003052.5(SLC34A1):c.1719A>G (p.Leu573=)	F12, SLC34A1	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 352975	NM_003052.5(SLC34A1):c.1702C>T (p.His568Tyr)	F12, SLC34A1 (H568Y)	Single nucleotide variant (missense variant)	Hereditary angioneurotic edema +4 more	GBenign/Likely benign
Select item 352974	NM_003052.5(SLC34A1):c.1635C>T (p.Gly545=)	SLC34A1, F12	Single nucleotide variant (synonymous variant)	Hereditary angioneurotic edema +4 more	GBenign
Select item 352973	NM_003052.5(SLC34A1):c.1483C>T (p.Arg495Cys)	F12, SLC34A1 (R495C)	Single nucleotide variant (missense variant)	Nephrolithiasis/osteoporosis, hypophosphatemic +4 more	GConflicting classifications of pathogenicity
Select item 305009	NM_000062.2(SERPING1):c.-99dup	SERPING1	Duplication	Hereditary angioneurotic edema	GLikely 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
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