11020[HGNC] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 149

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992237, LOC129992238 +861 more	Copy number gain	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992157, LOC129992158 +832 more	Copy number loss	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2445987	GRCh38/hg38 4p15.33-14(chr4:11399082-38137335)	FGFBP1, LOC126806998 +393 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 146534	GRCh38/hg38 4p15.32-15.1(chr4:16925022-32113076)x1	ADGRA3, ANAPC4 +201 more	Copy number loss	See cases	GPathogenic
Select item 146078	GRCh38/hg38 4p15.2(chr4:23862000-27685546)x1	ANAPC4, CCDC149 +101 more	Copy number loss	See cases	GPathogenic
Select item 5714	NC_000004.12:g.25655728_25655913del	SLC34A2	Deletion (genic upstream transcript variant)	PULMONARY ALVEOLAR MICROLITHIASIS	GPathogenic
Select item 2484147	NM_006424.3(SLC34A2):c.29C>A (p.Ala10Asp)	SLC34A2 (A10D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 773187	NM_006424.3(SLC34A2):c.42C>T (p.Pro14=)	SLC34A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 739975	NM_006424.3(SLC34A2):c.54C>T (p.Leu18=)	SLC34A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3164294	NM_006424.3(SLC34A2):c.61G>A (p.Ala21Thr)	SLC34A2 (A21T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2033163	NM_006424.3(SLC34A2):c.64G>A (p.Ala22Thr)	SLC34A2 (A22T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2042856	NM_006424.3(SLC34A2):c.99A>G (p.Lys33=)	SLC34A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1600581	NM_006424.3(SLC34A2):c.112+10G>A	SLC34A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 981832	NM_006424.3(SLC34A2):c.113-2A>G	SLC34A2	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 5715	NM_006424.3(SLC34A2):c.114del (p.Asp39fs)	SLC34A2 (D39fs)	Deletion (frameshift variant +1 more)	PULMONARY ALVEOLAR MICROLITHIASIS	GPathogenic
Select item 2460146	NM_006424.3(SLC34A2):c.130C>T (p.Pro44Ser)	SLC34A2 (P43S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260814	NM_006424.3(SLC34A2):c.131C>G (p.Pro44Arg)	SLC34A2 (P43R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 780909	NM_006424.3(SLC34A2):c.134T>C (p.Val45Ala)	SLC34A2 (V44A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3164293	NM_006424.3(SLC34A2):c.146A>T (p.Glu49Val)	SLC34A2 (E48V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1391746	NM_006424.3(SLC34A2):c.164C>G (p.Ser55Cys)	SLC34A2 (S54C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3047513	NM_006424.3(SLC34A2):c.198G>C (p.Val66=)	SLC34A2	Single nucleotide variant (synonymous variant)	SLC34A2-related disorder	GLikely benign
Select item 208162	NM_006424.3(SLC34A2):c.212_224del (p.Asn71fs)	SLC34A2 (N70fs +1 more)	Deletion (frameshift variant)	PULMONARY ALVEOLAR MICROLITHIASIS	GPathogenic
Select item 5716	NM_006424.3(SLC34A2):c.226C>T (p.Gln76Ter)	SLC34A2 (Q76* +1 more)	Single nucleotide variant (nonsense)	PULMONARY ALVEOLAR MICROLITHIASIS	GPathogenic
Select item 2543689	NM_006424.3(SLC34A2):c.233C>T (p.Ser78Leu)	SLC34A2 (S77L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1985680	NM_006424.3(SLC34A2):c.234G>A (p.Ser78=)	SLC34A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2035918	NM_006424.3(SLC34A2):c.250+9G>T	SLC34A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 789940	NM_006424.3(SLC34A2):c.251-5T>C	SLC34A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2558703	NM_006424.3(SLC34A2):c.290G>T (p.Gly97Val)	SLC34A2 (G96V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597761	NM_006424.3(SLC34A2):c.296G>C (p.Gly99Ala)	SLC34A2 (G98A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2624004	NM_006424.3(SLC34A2):c.314T>C (p.Leu105Pro)	SLC34A2 (L104P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 5717	NM_006424.3(SLC34A2):c.316G>C (p.Gly106Arg)	SLC34A2 (G106R +1 more)	Single nucleotide variant (missense variant)	PULMONARY ALVEOLAR MICROLITHIASIS	GLikely pathogenic
Select item 1443914	NM_006424.3(SLC34A2):c.361G>A (p.Ala121Thr)	SLC34A2 (A120T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1601104	NM_006424.3(SLC34A2):c.379+15G>C	SLC34A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3319543	NM_006424.3(SLC34A2):c.395A>T (p.Gln132Leu)	SLC34A2 (Q132L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1552232	NM_006424.3(SLC34A2):c.447C>T (p.Ile149=)	SLC34A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2314934	NM_006424.3(SLC34A2):c.451G>A (p.Val151Met)	SLC34A2 (V150M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1048918	NM_006424.3(SLC34A2):c.460A>G (p.Thr154Ala)	SLC34A2 (T153A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2559666	NM_006424.3(SLC34A2):c.463G>A (p.Val155Ile)	SLC34A2 (V154I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319540	NM_006424.3(SLC34A2):c.500T>A (p.Val167Asp)	SLC34A2 (V166D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319541	NM_006424.3(SLC34A2):c.508A>G (p.Met170Val)	SLC34A2 (M169V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 746872	NM_006424.3(SLC34A2):c.516C>T (p.Ser172=)	SLC34A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 773188	NM_006424.3(SLC34A2):c.524-8T>C	SLC34A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2327561	NM_006424.3(SLC34A2):c.541G>T (p.Ala181Ser)	SLC34A2 (A180S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319542	NM_006424.3(SLC34A2):c.544A>C (p.Ile182Leu)	SLC34A2 (I181L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 403455	NM_006424.3(SLC34A2):c.552T>C (p.Ile184=)	SLC34A2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2420766	NM_006424.3(SLC34A2):c.600G>A (p.Ala200=)	SLC34A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2038762	NM_006424.3(SLC34A2):c.635+5G>A	SLC34A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2954684	NM_006424.3(SLC34A2):c.636-19C>T	SLC34A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1974780	NM_006424.3(SLC34A2):c.636-18G>C	SLC34A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899189	NM_006424.3(SLC34A2):c.636-10C>A	SLC34A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 779418	NM_006424.3(SLC34A2):c.666C>T (p.Phe222=)	SLC34A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2518898	NM_006424.3(SLC34A2):c.682G>A (p.Val228Met)	SLC34A2 (V227M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 746414	NM_006424.3(SLC34A2):c.699C>T (p.Pro233=)	SLC34A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2078566	NM_006424.3(SLC34A2):c.700G>A (p.Val234Met)	SLC34A2 (V234M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3319544	NM_006424.3(SLC34A2):c.718T>G (p.Tyr240Asp)	SLC34A2 (Y240D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478883	NM_006424.3(SLC34A2):c.743T>C (p.Ile248Thr)	SLC34A2 (I248T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2179602	NM_006424.3(SLC34A2):c.789T>G (p.Leu263=)	SLC34A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2417674	NM_006424.3(SLC34A2):c.818del (p.Lys273fs)	SLC34A2 (K272fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1564154	NM_006424.3(SLC34A2):c.832-20C>T	SLC34A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 786814	NM_006424.3(SLC34A2):c.841A>G (p.Lys281Glu)	SLC34A2 (K281E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1370306	NM_006424.3(SLC34A2):c.853C>T (p.Gln285Ter)	SLC34A2 (Q285* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2542808	NM_006424.3(SLC34A2):c.878C>T (p.Ala293Val)	SLC34A2 (A293V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 783418	NM_006424.3(SLC34A2):c.936T>G (p.Ile312Met)	SLC34A2 (I312M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2281632	NM_006424.3(SLC34A2):c.944C>T (p.Thr315Ile)	SLC34A2 (T314I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461966	NM_006424.3(SLC34A2):c.964T>C (p.Cys322Arg)	SLC34A2 (C321R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1621150	NM_006424.3(SLC34A2):c.974C>T (p.Pro325Leu)	SLC34A2 (P324L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1601561	NM_006424.3(SLC34A2):c.989C>T (p.Thr330Met)	SLC34A2 (T329M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2258185	NM_006424.3(SLC34A2):c.1049G>A (p.Cys350Tyr)	SLC34A2 (C350Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1536531	NM_006424.3(SLC34A2):c.1089T>C (p.Ala363=)	SLC34A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2548150	NM_006424.3(SLC34A2):c.1108A>G (p.Ile370Val)	SLC34A2 (I370V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244402	NM_006424.3(SLC34A2):c.1111C>A (p.Leu371Ile)	SLC34A2 (L370I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2192399	NM_006424.3(SLC34A2):c.1185C>T (p.Val395=)	SLC34A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1712143	NM_006424.3(SLC34A2):c.1207A>G (p.Ile403Val)	SLC34A2 (I402V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2794670	NM_006424.3(SLC34A2):c.1216+17C>T	SLC34A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1333135	NM_006424.3(SLC34A2):c.1216+30_1216+33del	SLC34A2	Deletion (intron variant)	PULMONARY ALVEOLAR MICROLITHIASIS	GBenign
Select item 1333136	NM_006424.3(SLC34A2):c.1216+35_1216+36insAGGGA	SLC34A2	Insertion (intron variant)	PULMONARY ALVEOLAR MICROLITHIASIS	GBenign
Select item 1333137	NM_006424.3(SLC34A2):c.1216+37A>G	SLC34A2	Single nucleotide variant (intron variant)	PULMONARY ALVEOLAR MICROLITHIASIS	GBenign
Select item 2971449	NM_006424.3(SLC34A2):c.1238G>A (p.Trp413Ter)	SLC34A2 (W412* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 789280	NM_006424.3(SLC34A2):c.1242G>C (p.Leu414Phe)	SLC34A2 (L414F +1 more)	Single nucleotide variant (missense variant)	SLC34A2-related disorder +1 more	GBenign/Likely benign
Select item 1033105	NM_006424.3(SLC34A2):c.1244C>G (p.Thr415Ser)	SLC34A2 (T414S +1 more)	Single nucleotide variant (missense variant)	PULMONARY ALVEOLAR MICROLITHIASIS	GUncertain significance
Select item 3052031	NM_006424.3(SLC34A2):c.1267G>A (p.Gly423Arg)	SLC34A2 (G422R +1 more)	Single nucleotide variant (missense variant)	SLC34A2-related disorder	GUncertain significance
Select item 2895882	NM_006424.3(SLC34A2):c.1287C>T (p.Ile429=)	SLC34A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2235083	NM_006424.3(SLC34A2):c.1310C>T (p.Thr437Met)	SLC34A2 (T437M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2054508	NM_006424.3(SLC34A2):c.1311G>A (p.Thr437=)	SLC34A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2765615	NM_006424.3(SLC34A2):c.1314G>A (p.Ser438=)	SLC34A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1633001	NM_006424.3(SLC34A2):c.1317C>A (p.Ala439=)	SLC34A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 754074	NM_006424.3(SLC34A2):c.1333+9C>T	SLC34A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1654605	NM_006424.3(SLC34A2):c.1334-4C>G	SLC34A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3065913	NM_006424.3(SLC34A2):c.1342_1361del (p.Val448fs)	SLC34A2 (V447fs +1 more)	Deletion (frameshift variant)	PULMONARY ALVEOLAR MICROLITHIASIS	GLikely pathogenic
Select item 2654700	NM_006424.3(SLC34A2):c.1374G>T (p.Thr458=)	SLC34A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2039524	NM_006424.3(SLC34A2):c.1374G>A (p.Thr458=)	SLC34A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3148968	NM_006424.3(SLC34A2):c.1451C>A (p.Ser484Ter)	SLC34A2 (S484* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2034264	NM_006424.3(SLC34A2):c.1459-12C>T	SLC34A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2184371	NM_006424.3(SLC34A2):c.1491C>T (p.Ser497=)	SLC34A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

<< First< Prev

Page of 2