ClinVar for Gene (Select 931) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 3044444	NM_152866.3(MS4A1):c.819A>G (p.Glu273=)	MS4A1	Single nucleotide variant (synonymous variant)	MS4A1-related condition	GLikely benign
Select item 3036566	NM_152866.3(MS4A1):c.*5T>C	MS4A1	Single nucleotide variant (3 prime UTR variant)	MS4A1-related condition	GLikely benign
Select item 3016115	NM_152866.3(MS4A1):c.537T>C (p.Ser179=)	MS4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016081	NM_152866.3(MS4A1):c.799A>G (p.Ile267Val)	MS4A1 (I267V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013127	NM_152866.3(MS4A1):c.183C>T (p.Leu61=)	MS4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007433	NM_152866.3(MS4A1):c.788A>G (p.Glu263Gly)	MS4A1 (E263G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002700	NM_152866.3(MS4A1):c.839C>T (p.Pro280Leu)	MS4A1 (P280L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2990704	NM_152866.3(MS4A1):c.159+10T>C	MS4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2981757	NM_152866.3(MS4A1):c.48A>G (p.Pro16=)	MS4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969598	NM_152866.3(MS4A1):c.522G>A (p.Glu174=)	MS4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968308	NM_152866.3(MS4A1):c.831G>A (p.Thr277=)	MS4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2913349	NM_152866.3(MS4A1):c.597C>G (p.Ile199Met)	MS4A1 (I199M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2897176	NM_152866.3(MS4A1):c.653G>A (p.Arg218Lys)	MS4A1 (R218K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2893233	NM_152866.3(MS4A1):c.739G>A (p.Val247Ile)	MS4A1 (V247I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892927	NM_152866.3(MS4A1):c.336+8A>T	MS4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2884493	NM_152866.3(MS4A1):c.42A>G (p.Ala14=)	MS4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2878422	NM_152866.3(MS4A1):c.66T>C (p.Ala22=)	MS4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875089	NM_152866.3(MS4A1):c.573+19T>A	MS4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2861791	NM_152866.3(MS4A1):c.573+18G>A	MS4A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2845830	NM_152866.3(MS4A1):c.608T>G (p.Phe203Cys)	MS4A1 (F203C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2834317	NM_152866.3(MS4A1):c.822A>C (p.Glu274Asp)	MS4A1 (E274D)	Single nucleotide variant (missense variant)	not provided	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 2822969	NM_152866.3(MS4A1):c.65C>A (p.Ala22Asp)	MS4A1 (A22D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2818113	NM_152866.3(MS4A1):c.831G>C (p.Thr277=)	MS4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2811281	NM_152866.3(MS4A1):c.451_452del (p.Leu152fs)	MS4A1 (L152fs)	Microsatellite (frameshift 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 2800854	NM_152866.3(MS4A1):c.667C>A (p.Pro223Thr)	MS4A1 (P223T)	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 2795052	NM_152866.3(MS4A1):c.448G>C (p.Glu150Gln)	MS4A1 (E150Q)	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 2754051	NM_152866.3(MS4A1):c.198G>T (p.Leu66=)	MS4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2741064	NM_152866.3(MS4A1):c.674C>G (p.Ser225Cys)	MS4A1 (S225C)	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 2700408	NM_152866.3(MS4A1):c.280-20C>T	MS4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2698065	NM_152866.3(MS4A1):c.624A>G (p.Ile208Met)	MS4A1 (I208M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
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 2594670	NM_152866.3(MS4A1):c.35T>A (p.Phe12Tyr)	MS4A1 (F12Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2476471	NM_152866.3(MS4A1):c.539C>G (p.Thr180Ser)	MS4A1 (T180S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2431671	NM_152866.3(MS4A1):c.-279-10del	MS4A1	Deletion (intron variant)	Immunodeficiency, common variable, 5	GUncertain significance
Select item 2427421	NC_000011.9:g.(?_59939307)_(60235941_?)dup	MS4A1, MS4A14 +6 more	Duplication	not provided	GUncertain significance
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2422098	NM_152866.3(MS4A1):c.811GAA[3] (p.Glu274del)	MS4A1 (E274del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2420673	NM_152866.3(MS4A1):c.639G>T (p.Glu213Asp)	MS4A1 (E213D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2420659	NM_152866.3(MS4A1):c.291C>T (p.Ser97=)	MS4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2189850	NM_152866.3(MS4A1):c.539C>A (p.Thr180Asn)	MS4A1 (T180N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2164037	NM_152866.3(MS4A1):c.666A>G (p.Arg222=)	MS4A1	Single nucleotide variant (synonymous variant)	MS4A1-related condition +1 more	GLikely benign
Select item 2133368	NM_152866.3(MS4A1):c.546C>T (p.Tyr182=)	MS4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2130074	NM_152866.3(MS4A1):c.405C>T (p.Ile135=)	MS4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2127476	NM_152866.3(MS4A1):c.160-7T>A	MS4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2110336	NM_152866.3(MS4A1):c.834C>A (p.Asn278Lys)	MS4A1 (N278K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2110000	NM_152866.3(MS4A1):c.440dup (p.Leu147fs)	MS4A1 (L147fs)	Duplication (frameshift 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 2100113	NM_152866.3(MS4A1):c.854A>G (p.Asp285Gly)	MS4A1 (D285G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2085826	NM_152866.3(MS4A1):c.676-3T>C	MS4A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 2072267	NM_152866.3(MS4A1):c.70C>T (p.Gln24Ter)	MS4A1 (Q24*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2068697	NM_152866.3(MS4A1):c.732A>C (p.Glu244Asp)	MS4A1 (E244D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2067525	NM_152866.3(MS4A1):c.630C>G (p.Gly210=)	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 2045523	NM_152866.3(MS4A1):c.77G>T (p.Gly26Val)	MS4A1 (G26V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2031971	NM_152866.3(MS4A1):c.624del (p.Ile208fs)	MS4A1 (I208fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2020401	NM_152866.3(MS4A1):c.273C>T (p.Gly91=)	MS4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2001027	NM_152866.3(MS4A1):c.620T>G (p.Val207Gly)	MS4A1 (V207G)	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 1989419	NM_152866.3(MS4A1):c.792T>G (p.Ile264Met)	MS4A1 (I264M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1974032	NM_152866.3(MS4A1):c.336+12T>C	MS4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1964555	NM_152866.3(MS4A1):c.830C>T (p.Thr277Met)	MS4A1 (T277M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1956018	NM_152866.3(MS4A1):c.733G>A (p.Glu245Lys)	MS4A1 (E245K)	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 1953162	NM_152866.3(MS4A1):c.226A>T (p.Ile76Phe)	MS4A1 (I76F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1949038	NM_152866.3(MS4A1):c.159+19A>G	MS4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1931441	NM_152866.3(MS4A1):c.494A>T (p.Tyr165Phe)	MS4A1 (Y165F)	Single nucleotide variant (missense variant)	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 1909645	NM_152866.3(MS4A1):c.557T>C (p.Ile186Thr)	MS4A1 (I186T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1908057	NM_152866.3(MS4A1):c.728AAG[2] (p.Glu245del)	MS4A1 (E245del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1903322	NM_152866.3(MS4A1):c.676-18T>C	MS4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACCS, ACCSL +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
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 1649764	NM_152866.3(MS4A1):c.336+10C>T	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 1632137	NM_152866.3(MS4A1):c.675+11del	MS4A1	Deletion (intron variant)	not provided	GLikely benign
Select item 1631325	NM_152866.3(MS4A1):c.675+9T>C	MS4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1615136	NM_152866.3(MS4A1):c.9A>G (p.Thr3=)	MS4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1611039	NM_152866.3(MS4A1):c.312G>A (p.Thr104=)	MS4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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