Related gene-specific medical variations for Gene (Select 3931) - ClinVar

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Items: 34

	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 3018303	NM_000229.2(LCAT):c.144C>T (p.Pro48=)	LCAT, SLC12A4	Single nucleotide variant (3 prime UTR 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 1987863	NM_000229.2(LCAT):c.748+18A>G	LCAT, LOC130059254	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1803825	NM_000229.2(LCAT):c.832C>T (p.Pro278Ser)	LCAT (P278S)	Single nucleotide variant (missense variant)	Fish-eye disease +1 more	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)	Cardiovascular phenotype +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)	not provided +1 more	GLikely benign
Select item 320199	NM_000229.2(LCAT):c.748+13C>G	LCAT, LOC130059254	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 242813	NM_000229.2(LCAT):c.349G>A (p.Ala117Thr)	LCAT (A117T)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 242732	NM_000229.2(LCAT):c.544C>T (p.Arg182Cys)	LCAT (R182C)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
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: 34