Related gene-specific medical variations for Gene (Select 6560) - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3290244	NM_000229.2(LCAT):c.111G>A (p.Thr37=)	LCAT, SLC12A4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3230708	NM_000229.2(LCAT):c.93C>G (p.Leu31=)	LCAT, SLC12A4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3230699	NM_000229.2(LCAT):c.145G>A (p.Val49Ile)	LCAT, SLC12A4 (V49I)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3162865	NM_005072.5(SLC12A4):c.-31A>T	LOC130059257, SLC12A4 (D24V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3018303	NM_000229.2(LCAT):c.144C>T (p.Pro48=)	LCAT, SLC12A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2587101	NM_000229.2(LCAT):c.118G>C (p.Ala40Pro)	LCAT, SLC12A4 (A40P)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2515026	NM_000229.2(LCAT):c.10C>T (p.Pro4Ser)	LCAT, SLC12A4 (P4S)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2363795	NM_005072.5(SLC12A4):c.-65G>A	LOC130059257, SLC12A4 (G13R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2296917	NM_005072.5(SLC12A4):c.-22G>T	LOC130059257, SLC12A4 (C27F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1969478	NM_000229.2(LCAT):c.23G>A (p.Trp8Ter)	LCAT, SLC12A4 (W8*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1949476	NM_000229.2(LCAT):c.13G>A (p.Gly5Ser)	LCAT, SLC12A4 (G5S)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1939871	NM_000229.2(LCAT):c.154+15G>A	LCAT, SLC12A4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1933383	NM_000229.2(LCAT):c.107C>T (p.Thr36Ile)	LCAT, SLC12A4 (T36I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1782261	NM_000229.2(LCAT):c.18C>A (p.Ser6=)	LCAT, SLC12A4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1771007	NM_000229.2(LCAT):c.136A>T (p.Thr46Ser)	LCAT, SLC12A4 (T46S)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1769360	NM_000229.2(LCAT):c.12C>T (p.Pro4=)	LCAT, SLC12A4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1766826	NM_000229.2(LCAT):c.93C>T (p.Leu31=)	LCAT, SLC12A4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1765423	NM_000229.2(LCAT):c.8C>T (p.Pro3Leu)	LCAT, SLC12A4 (P3L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1759732	NM_000229.2(LCAT):c.75C>T (p.Phe25=)	LCAT, SLC12A4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1758183	NM_000229.2(LCAT):c.72C>G (p.Pro24=)	LCAT, SLC12A4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1755513	NM_000229.2(LCAT):c.67G>A (p.Ala23Thr)	LCAT, SLC12A4 (A23T)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1754973	NM_000229.2(LCAT):c.66C>T (p.Ala22=)	LCAT, SLC12A4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1739092	NM_000229.2(LCAT):c.116A>G (p.Lys39Arg)	LCAT, SLC12A4 (K39R)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1734083	NM_000229.2(LCAT):c.36G>A (p.Thr12=)	LCAT, SLC12A4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1733526	NM_000229.2(LCAT):c.114C>G (p.Pro38=)	LCAT, SLC12A4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1456665	NM_000229.2(LCAT):c.110C>T (p.Thr37Met)	LCAT, SLC12A4 (T37M)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1348002	NM_000229.2(LCAT):c.35C>T (p.Thr12Met)	LCAT, SLC12A4 (T12M)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1282461	NM_000229.2(LCAT):c.154+155T>G	LCAT, SLC12A4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1221653	NM_005072.5(SLC12A4):c.*1361A>G	LCAT, SLC12A4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 725761	NM_000229.2(LCAT):c.102G>A (p.Pro34=)	LCAT, SLC12A4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 3662	NM_000229.2(LCAT):c.101C>T (p.Pro34Leu)	LCAT, SLC12A4 (P34L)	Single nucleotide variant (missense variant +1 more)	Fish-eye disease +1 more	GPathogenic
Select item 3661	NM_000229.2(LCAT):c.101dup (p.His35fs)	LCAT, SLC12A4 (H35fs)	Duplication (frameshift variant +1 more)	Cardiovascular phenotype +1 more	GPathogenic

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Items: 32