1173[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 271

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 224832	NC_000003.12:g.177772523_185716872dup	ALG3, AP2M1 +280 more	Duplication	Currarino triad	GLikely pathogenic
Select item 153734	GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1	ABCC5, ABCC5-AS1 +399 more	Copy number loss	See cases	GPathogenic
Select item 153971	GRCh38/hg38 3q26.33-27.3(chr3:182319764-186443121)x1	ABCC5, ABCC5-AS1 +205 more	Copy number loss	See cases	GLikely pathogenic
Select item 3238952	GRCh38/hg38 3q27.1-27.2(chr3:183020090-185760128)x1	LOC121048724, LOC121048725 +160 more	Copy number loss	Esodeviation +7 more	GPathogenic
Select item 155230	GRCh38/hg38 3q27.1(chr3:183521497-184472038)x1	ABCC5, ABCC5-AS1 +85 more	Copy number loss	See cases	GLikely pathogenic
Select item 146251	GRCh38/hg38 3q27.1(chr3:183747088-184238311)x3	ABCC5, ABCC5-AS1 +41 more	Copy number gain	See cases	GLikely benign
Select item 148845	GRCh38/hg38 3q27.1(chr3:183816693-184365094)x3	ABCC5, ABCC5-AS1 +63 more	Copy number gain	See cases	GUncertain significance
Select item 151178	GRCh38/hg38 3q27.1-27.2(chr3:184010704-186288926)x1	ABCC5, ABCC5-AS1 +126 more	Copy number loss	See cases	GLikely pathogenic
Select item 2654308	NM_004068.4(AP2M1):c.-3G>A	LOC123453202, AP2M1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2714255	NM_004068.4(AP2M1):c.26del (p.Asn9fs)	AP2M1, LOC123453202 (N9fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1531627	NM_004068.4(AP2M1):c.30C>T (p.His10=)	AP2M1, LOC123453202	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869511	NM_004068.4(AP2M1):c.36G>A (p.Gly12=)	AP2M1, LOC123453202	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1531323	NM_004068.4(AP2M1):c.42G>C (p.Val14=)	LOC123453202, AP2M1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1934998	NM_004068.4(AP2M1):c.48C>T (p.Ile16=)	AP2M1, LOC123453202	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1667905	NM_004068.4(AP2M1):c.50C>T (p.Ser17Phe)	AP2M1, LOC123453202 (S17F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2027471	NM_004068.4(AP2M1):c.54_55dup (p.Val19fs)	AP2M1, LOC123453202 (V19fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2909850	NM_004068.4(AP2M1):c.55G>A (p.Val19Ile)	AP2M1, LOC123453202 (V19I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2766094	NM_004068.4(AP2M1):c.68A>C (p.Asp23Ala)	AP2M1, LOC123453202 (D23A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1285449	NM_004068.4(AP2M1):c.73G>A (p.Gly25Arg)	AP2M1, LOC123453202 (G25R)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 60 with seizures	GUncertain significance
Select item 1397790	NM_004068.4(AP2M1):c.74+6T>C	AP2M1, LOC123453202	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2844971	NM_004068.4(AP2M1):c.74+7C>T	AP2M1, LOC123453202	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1610509	NM_004068.4(AP2M1):c.74+14C>T	AP2M1, LOC123453202	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2578954	NM_004068.4(AP2M1):c.74+485G>T	AP2M1, LOC123453202 (Q28H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2498945	NM_004068.4(AP2M1):c.74+509T>C	AP2M1, LOC123453202	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3055975	NM_004068.4(AP2M1):c.74+513T>C	AP2M1, LOC123453202 (S38P)	Single nucleotide variant (missense variant +1 more)	AP2M1-related disorder	GBenign
Select item 2578955	NM_004068.4(AP2M1):c.75-643G>A	AP2M1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1566914	NM_004068.4(AP2M1):c.75-20T>G	AP2M1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1639167	NM_004068.4(AP2M1):c.75-19A>G	AP2M1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2972392	NM_004068.4(AP2M1):c.75-18T>C	AP2M1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1643227	NM_004068.4(AP2M1):c.75-9T>C	AP2M1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2084956	NM_004068.4(AP2M1):c.75-7C>T	AP2M1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1466496	NM_004068.4(AP2M1):c.75-7C>A	AP2M1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2899706	NM_004068.4(AP2M1):c.75-6C>T	AP2M1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2900374	NM_004068.4(AP2M1):c.75-5C>G	AP2M1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1452344	NM_004068.4(AP2M1):c.75-5C>T	AP2M1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1610043	NM_004068.4(AP2M1):c.75-4T>C	AP2M1	Single nucleotide variant (intron variant)	Intellectual developmental disorder 60 with seizures +2 more	GBenign
Select item 1567541	NM_004068.4(AP2M1):c.81C>T (p.Asn27=)	AP2M1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1581240	NM_004068.4(AP2M1):c.84A>G (p.Ala28=)	AP2M1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3254703	NM_004068.4(AP2M1):c.97C>T (p.Arg33Trp)	AP2M1 (R33W +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 60 with seizures	GUncertain significance
Select item 1398992	NM_004068.4(AP2M1):c.104A>G (p.Asn35Ser)	AP2M1 (N35S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2740680	NM_004068.4(AP2M1):c.105T>C (p.Asn35=)	AP2M1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2861061	NM_004068.4(AP2M1):c.118C>T (p.Arg40Trp)	AP2M1 (R65W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1594994	NM_004068.4(AP2M1):c.129G>T (p.Val43=)	AP2M1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1519693	NM_004068.4(AP2M1):c.130C>T (p.Arg44Cys)	AP2M1 (R44C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010245	NM_004068.4(AP2M1):c.138C>T (p.Pro46=)	AP2M1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2173889	NM_004068.4(AP2M1):c.144C>T (p.Thr48=)	AP2M1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1355069	NM_004068.4(AP2M1):c.172G>A (p.Val58Ile)	AP2M1 (V83I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3362496	NM_004068.4(AP2M1):c.178C>T (p.Arg60Trp)	AP2M1 (R60W +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 60 with seizures	GUncertain significance
Select item 2756403	NM_004068.4(AP2M1):c.198A>G (p.Ala66=)	AP2M1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1577459	NM_004068.4(AP2M1):c.199G>A (p.Ala67Thr)	AP2M1 (A67T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2077017	NM_004068.4(AP2M1):c.216T>C (p.Asn72=)	AP2M1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2057028	NM_004068.4(AP2M1):c.222C>T (p.Asn74=)	AP2M1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1690983	NM_004068.4(AP2M1):c.223G>T (p.Ala75Ser)	AP2M1 (A100S +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1618766	NM_004068.4(AP2M1):c.237C>T (p.Phe79=)	AP2M1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1064790	NM_004068.4(AP2M1):c.238G>A (p.Glu80Lys)	AP2M1 (E105K +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 1578414	NM_004068.4(AP2M1):c.243C>T (p.Phe81=)	AP2M1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1969230	NM_004068.4(AP2M1):c.255G>C (p.Met85Ile)	AP2M1 (M85I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1428998	NM_004068.4(AP2M1):c.255G>A (p.Met85Ile)	AP2M1 (M85I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2022991	NM_004068.4(AP2M1):c.257G>A (p.Cys86Tyr)	AP2M1 (C111Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1656740	NM_004068.4(AP2M1):c.261C>T (p.Asp87=)	AP2M1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2763782	NM_004068.4(AP2M1):c.264G>T (p.Val88=)	AP2M1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1715804	NM_004068.4(AP2M1):c.266T>G (p.Met89Arg)	AP2M1 (M114R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2770953	NM_004068.4(AP2M1):c.281G>T (p.Gly94Val)	AP2M1 (G119V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2822611	NM_004068.4(AP2M1):c.286A>G (p.Ile96Val)	AP2M1 (I96V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1963543	NM_004068.4(AP2M1):c.289A>G (p.Ser97Gly)	AP2M1 (S122G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2760209	NM_004068.4(AP2M1):c.290G>A (p.Ser97Asn)	AP2M1 (S97N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1523778	NM_004068.4(AP2M1):c.301A>G (p.Ile101Val)	AP2M1 (I101V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1626076	NM_004068.4(AP2M1):c.340+9G>A	AP2M1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1581595	NM_004068.4(AP2M1):c.340+11C>T	AP2M1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1609835	NM_004068.4(AP2M1):c.340+12G>A	AP2M1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1693169	NM_004068.4(AP2M1):c.340+56G>A	AP2M1	Single nucleotide variant (intron variant)	Intellectual developmental disorder 60 with seizures	GBenign
Select item 1602499	NM_004068.4(AP2M1):c.341-18G>T	AP2M1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2808195	NM_004068.4(AP2M1):c.341-16T>C	AP2M1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1646595	NM_004068.4(AP2M1):c.341-9T>C	AP2M1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2171459	NM_004068.4(AP2M1):c.341-8T>G	AP2M1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1428329	NM_004068.4(AP2M1):c.353T>A (p.Phe118Tyr)	AP2M1 (F143Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2718695	NM_004068.4(AP2M1):c.354T>C (p.Phe118=)	AP2M1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2004606	NM_004068.4(AP2M1):c.362C>G (p.Pro121Arg)	AP2M1 (P121R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1627168	NM_004068.4(AP2M1):c.372C>T (p.Ser124=)	AP2M1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1403419	NM_004068.4(AP2M1):c.382G>A (p.Ala128Thr)	AP2M1 (A128T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1930205	NM_004068.4(AP2M1):c.384G>A (p.Ala128=)	AP2M1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1569054	NM_004068.4(AP2M1):c.385C>T (p.Leu129=)	AP2M1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2845730	NM_004068.4(AP2M1):c.394T>A (p.Phe132Ile)	AP2M1 (F157I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1629188	NM_004068.4(AP2M1):c.396C>T (p.Phe132=)	AP2M1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1355242	NM_004068.4(AP2M1):c.401C>T (p.Thr134Met)	AP2M1 (T134M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1535920	NM_004068.4(AP2M1):c.402G>A (p.Thr134=)	AP2M1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1936734	NM_004068.4(AP2M1):c.405G>A (p.Gln135=)	AP2M1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1618190	NM_004068.4(AP2M1):c.423+4C>T	AP2M1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1412382	NM_004068.4(AP2M1):c.423+4C>A	AP2M1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity

<< First< Prev

Page of 3