MS4A1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155601	GRCh38/hg38 11q12.1-12.2(chr11:59851273-60699280)x1	LINC00301, LINC02705 +41 more	Copy number loss	See cases	GLikely benign
Select item 2431671	NM_152866.3(MS4A1):c.-279-10del	MS4A1	Deletion (intron variant)	Immunodeficiency, common variable, 5	GUncertain significance
Select item 1229170	NM_152866.3(MS4A1):c.-171C>T	MS4A1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1615136	NM_152866.3(MS4A1):c.9A>G (p.Thr3=)	MS4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1348931	NM_152866.3(MS4A1):c.10C>T (p.Pro4Ser)	MS4A1 (P4S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2594670	NM_152866.3(MS4A1):c.35T>A (p.Phe12Tyr)	MS4A1 (F12Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1441898	NM_152866.3(MS4A1):c.38C>T (p.Pro13Leu)	MS4A1 (P13L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1110281	NM_152866.3(MS4A1):c.39G>A (p.Pro13=)	MS4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1525362	NM_152866.3(MS4A1):c.40G>A (p.Ala14Thr)	MS4A1 (A14T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2884493	NM_152866.3(MS4A1):c.42A>G (p.Ala14=)	MS4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2604592	NM_152866.3(MS4A1):c.45G>T (p.Glu15Asp)	MS4A1 (E15D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1908824	NM_152866.3(MS4A1):c.47C>T (p.Pro16Leu)	MS4A1 (P16L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981757	NM_152866.3(MS4A1):c.48A>G (p.Pro16=)	MS4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 502136	NM_152866.3(MS4A1):c.50T>C (p.Met17Thr)	MS4A1 (M17T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2710154	NM_152866.3(MS4A1):c.51G>A (p.Met17Ile)	MS4A1 (M17I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2104137	NM_152866.3(MS4A1):c.55G>T (p.Gly19Cys)	MS4A1 (G19C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1444995	NM_152866.3(MS4A1):c.59C>T (p.Pro20Leu)	MS4A1 (P20L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1549036	NM_152866.3(MS4A1):c.60T>C (p.Pro20=)	MS4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2822969	NM_152866.3(MS4A1):c.65C>A (p.Ala22Asp)	MS4A1 (A22D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2878422	NM_152866.3(MS4A1):c.66T>C (p.Ala22=)	MS4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1389634	NM_152866.3(MS4A1):c.67A>G (p.Met23Val)	MS4A1 (M23V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072267	NM_152866.3(MS4A1):c.70C>T (p.Gln24Ter)	MS4A1 (Q24*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1928433	NM_152866.3(MS4A1):c.74C>A (p.Ser25Tyr)	MS4A1 (S25Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2045523	NM_152866.3(MS4A1):c.77G>T (p.Gly26Val)	MS4A1 (G26V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2323373	NM_152866.3(MS4A1):c.86C>T (p.Pro29Leu)	MS4A1 (P29L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2825799	NM_152866.3(MS4A1):c.98G>A (p.Arg33Lys)	MS4A1 (R33K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2766697	NM_152866.3(MS4A1):c.110T>G (p.Leu37Arg)	MS4A1 (L37R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 720956	NM_152866.3(MS4A1):c.111G>C (p.Leu37=)	MS4A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1963394	NM_152866.3(MS4A1):c.115G>A (p.Gly39Ser)	MS4A1 (G39S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1477830	NM_152866.3(MS4A1):c.119C>A (p.Pro40His)	MS4A1 (P40H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2798258	NM_152866.3(MS4A1):c.121A>T (p.Thr41Ser)	MS4A1 (T41S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1436776	NM_152866.3(MS4A1):c.122C>T (p.Thr41Met)	MS4A1 (T41M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 742969	NM_152866.3(MS4A1):c.123G>A (p.Thr41=)	MS4A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2074345	NM_152866.3(MS4A1):c.157G>C (p.Gly53Arg)	MS4A1 (G53R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990704	NM_152866.3(MS4A1):c.159+10T>C	MS4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1949038	NM_152866.3(MS4A1):c.159+19A>G	MS4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1170874	NM_152866.3(MS4A1):c.160-18C>G	MS4A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2127476	NM_152866.3(MS4A1):c.160-7T>A	MS4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1652931	NM_152866.3(MS4A1):c.160-4C>T	MS4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1650849	NM_152866.3(MS4A1):c.180G>A (p.Gly60=)	MS4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013127	NM_152866.3(MS4A1):c.183C>T (p.Leu61=)	MS4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1496974	NM_152866.3(MS4A1):c.190A>G (p.Ile64Val)	MS4A1 (I64V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 811262	NM_152866.3(MS4A1):c.194C>T (p.Ala65Val)	MS4A1 (A65V)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 5	GUncertain significance
Select item 2754051	NM_152866.3(MS4A1):c.198G>T (p.Leu66=)	MS4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2484970	NM_152866.3(MS4A1):c.206T>C (p.Leu69Pro)	MS4A1 (L69P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1599181	NM_152866.3(MS4A1):c.208C>T (p.Leu70=)	MS4A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3001724	NM_152866.3(MS4A1):c.215T>A (p.Ile72Asn)	MS4A1 (I72N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 618716	NM_152866.3(MS4A1):c.216C>T (p.Ile72=)	MS4A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1953162	NM_152866.3(MS4A1):c.226A>T (p.Ile76Phe)	MS4A1 (I76F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1439698	NM_152866.3(MS4A1):c.235C>A (p.Pro79Thr)	MS4A1 (P79T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1546867	NM_152866.3(MS4A1):c.262C>A (p.Leu88Ile)	MS4A1 (L88I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2020401	NM_152866.3(MS4A1):c.273C>T (p.Gly91=)	MS4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1175076	NM_152866.3(MS4A1):c.273C>A (p.Gly91=)	MS4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1370098	NM_152866.3(MS4A1):c.279+1G>A	MS4A1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1242271	NM_152866.3(MS4A1):c.279+128G>T	MS4A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2700408	NM_152866.3(MS4A1):c.280-20C>T	MS4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2420659	NM_152866.3(MS4A1):c.291C>T (p.Ser97=)	MS4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1376744	NM_152866.3(MS4A1):c.292G>A (p.Gly98Arg)	MS4A1 (G98R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1438627	NM_152866.3(MS4A1):c.311C>T (p.Thr104Met)	MS4A1 (T104M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1611039	NM_152866.3(MS4A1):c.312G>A (p.Thr104=)	MS4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 626143	NM_152866.3(MS4A1):c.315G>C (p.Glu105Asp)	MS4A1 (E105D)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 5 +1 more	GUncertain significance
Select item 1035246	NM_152866.3(MS4A1):c.328A>G (p.Lys110Glu)	MS4A1 (K110E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 17705	NM_152866.3(MS4A1):c.336+6_336+7delinsGACATATGGTT	MS4A1	Indel (intron variant)	Immunodeficiency, common variable, 5	GPathogenic
Select item 2892927	NM_152866.3(MS4A1):c.336+8A>T	MS4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1649764	NM_152866.3(MS4A1):c.336+10C>T	MS4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1974032	NM_152866.3(MS4A1):c.336+12T>C	MS4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1538814	NM_152866.3(MS4A1):c.336+17C>A	MS4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1646592	NM_152866.3(MS4A1):c.336+18C>T	MS4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1640683	NM_152866.3(MS4A1):c.336+21_336+23del	MS4A1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1269889	NM_152866.3(MS4A1):c.336+169G>A	MS4A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1386910	NM_152866.3(MS4A1):c.337G>A (p.Val113Ile)	MS4A1 (V113I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1438393	NM_152866.3(MS4A1):c.344G>A (p.Gly115Glu)	MS4A1 (G115E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1037439	NM_152866.3(MS4A1):c.352A>C (p.Ile118Leu)	MS4A1 (I118L)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 5 +1 more	GUncertain significance
Select item 1945246	NM_152866.3(MS4A1):c.353T>C (p.Ile118Thr)	MS4A1 (I118T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1954417	NM_152866.3(MS4A1):c.393G>T (p.Met131Ile)	MS4A1 (M131I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1719246	NM_152866.3(MS4A1):c.397C>A (p.Leu133Ile)	MS4A1 (L133I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2130074	NM_152866.3(MS4A1):c.405C>T (p.Ile135=)	MS4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2110000	NM_152866.3(MS4A1):c.440dup (p.Leu147fs)	MS4A1 (L147fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2811281	NM_152866.3(MS4A1):c.451_452del (p.Leu152fs)	MS4A1 (L152fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2795052	NM_152866.3(MS4A1):c.448G>C (p.Glu150Gln)	MS4A1 (E150Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960364	NM_152866.3(MS4A1):c.455T>C (p.Leu152Pro)	MS4A1 (L152P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985439	NM_152866.3(MS4A1):c.476C>T (p.Thr159Ile)	MS4A1 (T159I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881996	NM_152866.3(MS4A1):c.481T>C (p.Tyr161His)	MS4A1 (Y161H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1467070	NM_152866.3(MS4A1):c.481T>G (p.Tyr161Asp)	MS4A1 (Y161D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1931441	NM_152866.3(MS4A1):c.494A>T (p.Tyr165Phe)	MS4A1 (Y165F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1991015	NM_152866.3(MS4A1):c.510_511delinsAT (p.Asn171Tyr)	MS4A1 (N171Y)	Indel (missense variant)	not provided	GUncertain significance
Select item 2969598	NM_152866.3(MS4A1):c.522G>A (p.Glu174=)	MS4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1402548	NM_152866.3(MS4A1):c.532C>T (p.Pro178Ser)	MS4A1 (P178S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2807568	NM_152866.3(MS4A1):c.533C>T (p.Pro178Leu)	MS4A1 (P178L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016115	NM_152866.3(MS4A1):c.537T>C (p.Ser179=)	MS4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2476471	NM_152866.3(MS4A1):c.539C>G (p.Thr180Ser)	MS4A1 (T180S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2189850	NM_152866.3(MS4A1):c.539C>A (p.Thr180Asn)	MS4A1 (T180N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1431501	NM_152866.3(MS4A1):c.545A>G (p.Tyr182Cys)	MS4A1 (Y182C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2133368	NM_152866.3(MS4A1):c.546C>T (p.Tyr182=)	MS4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2056021	NM_152866.3(MS4A1):c.553A>T (p.Ser185Cys)	MS4A1 (S185C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1352088	NM_152866.3(MS4A1):c.556A>C (p.Ile186Leu)	MS4A1 (I186L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1909645	NM_152866.3(MS4A1):c.557T>C (p.Ile186Thr)	MS4A1 (I186T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1147469	NM_152866.3(MS4A1):c.573+9_573+21del	MS4A1	Microsatellite (splice donor variant)	not provided	GLikely benign
Select item 1521135	NM_152866.3(MS4A1):c.573+1G>T	MS4A1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1425555	NM_152866.3(MS4A1):c.573+4A>G	MS4A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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