50485[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 150323	GRCh38/hg38 2q35(chr2:215908412-216680325)x3	IGFBP2, IGFBP5 +40 more	Copy number gain	See cases	GLikely benign
Select item 153437	GRCh38/hg38 2q35(chr2:216266846-216782346)x3	IGFBP-AS1, IGFBP2 +16 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 1693165	NC_000002.12:g.216370024_216479573inv	LOC112806077, LOC129935569 +2 more	Inversion	Schimke immuno-osseous dysplasia	GLikely pathogenic
Select item 898338	NM_014140.3(SMARCAL1):c.-316T>C	LOC112806077, SMARCAL1	Single nucleotide variant	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 895358	NM_014140.3(SMARCAL1):c.-300G>C	LOC112806077, SMARCAL1	Single nucleotide variant	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 895359	NM_014140.3(SMARCAL1):c.-262C>G	LOC112806077, SMARCAL1	Single nucleotide variant	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 334280	NM_014140.4(SMARCAL1):c.-218C>T	SMARCAL1, LOC112806077	Single nucleotide variant (5 prime UTR variant)	Schimke immuno-osseous dysplasia +1 more	GBenign
Select item 334281	NM_014140.4(SMARCAL1):c.-200G>A	SMARCAL1, LOC112806077	Single nucleotide variant (5 prime UTR variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 334282	NM_014140.4(SMARCAL1):c.-170C>T	LOC112806077, SMARCAL1	Single nucleotide variant (5 prime UTR variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 334283	NM_014140.4(SMARCAL1):c.-164G>A	LOC112806077, SMARCAL1	Single nucleotide variant (5 prime UTR variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 334284	NM_014140.4(SMARCAL1):c.-141G>A	SMARCAL1	Single nucleotide variant (5 prime UTR variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 334285	NM_014140.4(SMARCAL1):c.-137A>G	SMARCAL1	Single nucleotide variant (5 prime UTR variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 334286	NM_014140.4(SMARCAL1):c.-114G>A	SMARCAL1	Single nucleotide variant (5 prime UTR variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 1678506	NM_014140.4(SMARCAL1):c.-96+155G>A	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 334287	NM_014140.4(SMARCAL1):c.-82T>C	SMARCAL1	Single nucleotide variant (5 prime UTR variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3367274	NM_014140.4(SMARCAL1):c.-59+1G>T	SMARCAL1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1287616	NM_014140.4(SMARCAL1):c.-58-254G>A	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259167	NM_014140.4(SMARCAL1):c.-58-210G>A	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 334288	NM_014140.4(SMARCAL1):c.-48C>A	SMARCAL1	Single nucleotide variant (5 prime UTR variant)	Schimke immuno-osseous dysplasia +1 more	GUncertain significance
Select item 652386	NC_000002.12:g.(?_216414695)_(216416317_?)del	SMARCAL1	Deletion	Schimke immuno-osseous dysplasia	GPathogenic
Select item 3032866	NM_014140.4(SMARCAL1):c.1A>G (p.Met1Val)	SMARCAL1 (M1V)	Single nucleotide variant (missense variant +1 more)	SMARCAL1-related disorder	GUncertain significance
Select item 1448824	NM_014140.4(SMARCAL1):c.5C>T (p.Ser2Phe)	SMARCAL1 (S2F)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 1652074	NM_014140.4(SMARCAL1):c.9G>A (p.Leu3=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 1980768	NM_014140.4(SMARCAL1):c.25C>G (p.Gln9Glu)	SMARCAL1 (Q9E)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 2009523	NM_014140.4(SMARCAL1):c.29G>T (p.Arg10Met)	SMARCAL1 (R10M)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 2075843	NM_014140.4(SMARCAL1):c.33A>G (p.Lys11=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 1519647	NM_014140.4(SMARCAL1):c.41A>T (p.Glu14Val)	SMARCAL1 (E14V)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia +1 more	GUncertain significance
Select item 4172	NM_014140.4(SMARCAL1):c.49C>T (p.Arg17Ter)	SMARCAL1 (R17*)	Single nucleotide variant (nonsense)	Schimke immuno-osseous dysplasia	GPathogenic
Select item 1896702	NM_014140.4(SMARCAL1):c.50G>A (p.Arg17Gln)	SMARCAL1 (R17Q)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 2056165	NM_014140.4(SMARCAL1):c.57G>A (p.Lys19=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 1401624	NM_014140.4(SMARCAL1):c.59C>G (p.Ala20Gly)	SMARCAL1 (A20G)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 1565980	NM_014140.4(SMARCAL1):c.60T>C (p.Ala20=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 3393103	NM_014140.4(SMARCAL1):c.64del (p.Ala22fs)	SMARCAL1 (A22fs)	Deletion (frameshift variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 951652	NM_014140.4(SMARCAL1):c.67C>T (p.Arg23Cys)	SMARCAL1 (R23C)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 2837612	NM_014140.4(SMARCAL1):c.68G>C (p.Arg23Pro)	SMARCAL1 (R23P)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 1034643	NM_014140.4(SMARCAL1):c.68G>A (p.Arg23His)	SMARCAL1 (R23H)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 797322	NM_014140.4(SMARCAL1):c.69C>G (p.Arg23=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 334289	NM_014140.4(SMARCAL1):c.72A>G (p.Arg24=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia +1 more	GBenign/Likely benign
Select item 334290	NM_014140.4(SMARCAL1):c.76G>A (p.Glu26Lys)	SMARCAL1 (E26K)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 1114687	NM_014140.4(SMARCAL1):c.87G>A (p.Leu29=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 1981264	NM_014140.4(SMARCAL1):c.89C>T (p.Ala30Val)	SMARCAL1 (A30V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2990943	NM_014140.4(SMARCAL1):c.90A>C (p.Ala30=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 1007534	NM_014140.4(SMARCAL1):c.92A>G (p.Glu31Gly)	SMARCAL1 (E31G)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 1531187	NM_014140.4(SMARCAL1):c.96G>A (p.Gln32=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 1912375	NM_014140.4(SMARCAL1):c.99T>C (p.His33=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 4173	NM_014140.4(SMARCAL1):c.100C>T (p.Gln34Ter)	SMARCAL1 (Q34*)	Single nucleotide variant (nonsense)	Schimke immuno-osseous dysplasia	GPathogenic
Select item 2275181	NM_014140.4(SMARCAL1):c.107C>A (p.Thr36Asn)	SMARCAL1 (T36N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1149244	NM_014140.4(SMARCAL1):c.108T>C (p.Thr36=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 1058549	NM_014140.4(SMARCAL1):c.109A>G (p.Ser37Gly)	SMARCAL1 (S37G)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 2322717	NM_014140.4(SMARCAL1):c.110G>C (p.Ser37Thr)	SMARCAL1 (S37T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1138465	NM_014140.4(SMARCAL1):c.111C>T (p.Ser37=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 1122952	NM_014140.4(SMARCAL1):c.114G>A (p.Ser38=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 499438	NM_014140.4(SMARCAL1):c.114G>T (p.Ser38=)	SMARCAL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 791007	NM_014140.4(SMARCAL1):c.117C>T (p.Gly39=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 1474557	NM_014140.4(SMARCAL1):c.119C>T (p.Thr40Ile)	SMARCAL1 (T40I)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 2778737	NM_014140.4(SMARCAL1):c.120C>G (p.Thr40=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 1566987	NM_014140.4(SMARCAL1):c.120C>T (p.Thr40=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 1614007	NM_014140.4(SMARCAL1):c.123C>T (p.Ser41=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2876809	NM_014140.4(SMARCAL1):c.126dup (p.Ala43fs)	SMARCAL1 (A43fs)	Duplication (frameshift variant)	Schimke immuno-osseous dysplasia	GPathogenic
Select item 1167494	NM_014140.4(SMARCAL1):c.124A>G (p.Ile42Val)	SMARCAL1 (I42V)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GBenign/Likely benign
Select item 260337	NM_014140.4(SMARCAL1):c.127G>A (p.Ala43Thr)	SMARCAL1 (A43T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1543138	NM_014140.4(SMARCAL1):c.129T>G (p.Ala43=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 1607908	NM_014140.4(SMARCAL1):c.135C>T (p.Asn45=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 1636466	NM_014140.4(SMARCAL1):c.147C>G (p.Ala49=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 1367261	NM_014140.4(SMARCAL1):c.148A>G (p.Lys50Glu)	SMARCAL1 (K50E)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 1396835	NM_014140.4(SMARCAL1):c.154G>C (p.Gly52Arg)	SMARCAL1 (G52R)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 1130044	NM_014140.4(SMARCAL1):c.156C>A (p.Gly52=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 1976492	NM_014140.4(SMARCAL1):c.162C>T (p.Ser54=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2714110	NM_014140.4(SMARCAL1):c.165A>G (p.Gln55=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2183985	NM_014140.4(SMARCAL1):c.176G>C (p.Arg59Thr)	SMARCAL1 (R59T)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 568006	NM_014140.4(SMARCAL1):c.179A>C (p.Glu60Ala)	SMARCAL1 (E60A)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 1540262	NM_014140.4(SMARCAL1):c.183T>C (p.Ser61=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 1103865	NM_014140.4(SMARCAL1):c.186T>C (p.Cys62=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 764279	NM_014140.4(SMARCAL1):c.189G>A (p.Lys63=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 1092835	NM_014140.4(SMARCAL1):c.192A>C (p.Pro64=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 1402912	NM_014140.4(SMARCAL1):c.193G>A (p.Val65Met)	SMARCAL1 (V65M)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 1661425	NM_014140.4(SMARCAL1):c.195G>A (p.Val65=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 1377968	NM_014140.4(SMARCAL1):c.199C>A (p.His67Asn)	SMARCAL1 (H67N)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 1490243	NM_014140.4(SMARCAL1):c.200A>C (p.His67Pro)	SMARCAL1 (H67P)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 1636019	NM_014140.4(SMARCAL1):c.201T>C (p.His67=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 3166315	NM_014140.4(SMARCAL1):c.202G>A (p.Gly68Ser)	SMARCAL1 (G68S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2135977	NM_014140.4(SMARCAL1):c.204T>C (p.Gly68=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 1469917	NM_014140.4(SMARCAL1):c.209T>G (p.Ile70Ser)	SMARCAL1 (I70S)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 1577682	NM_014140.4(SMARCAL1):c.216G>A (p.Lys72=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 1040727	NM_014140.4(SMARCAL1):c.221A>G (p.Gln74Arg)	SMARCAL1 (Q74R)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 2900566	NM_014140.4(SMARCAL1):c.222G>A (p.Gln74=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2433582	NM_014140.4(SMARCAL1):c.223_239del (p.Gln74_Asn75insTer)	SMARCAL1	Deletion (nonsense)	Schimke immuno-osseous dysplasia	GLikely pathogenic
Select item 2859460	NM_014140.4(SMARCAL1):c.230_237del (p.Ser77fs)	SMARCAL1 (S77fs)	Deletion (frameshift variant)	Schimke immuno-osseous dysplasia	GPathogenic
Select item 2872343	NM_014140.4(SMARCAL1):c.228C>A (p.Leu76=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 935216	NM_014140.4(SMARCAL1):c.236C>T (p.Ser79Leu)	SMARCAL1 (S79L)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 2104595	NM_014140.4(SMARCAL1):c.237A>G (p.Ser79=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 3446062	NM_014140.4(SMARCAL1):c.247G>A (p.Asp83Asn)	SMARCAL1 (D83N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 870377	NM_014140.4(SMARCAL1):c.250dup (p.Gln84fs)	SMARCAL1 (Q84fs)	Duplication (frameshift variant)	Schimke immuno-osseous dysplasia	GPathogenic
Select item 1430843	NM_014140.4(SMARCAL1):c.251A>G (p.Gln84Arg)	SMARCAL1 (Q84R)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance

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