SLMAP[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 525

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57386	GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1	ABHD6, ACOX2 +218 more	Copy number loss	See cases	GPathogenic
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 more	Copy number loss	See cases	GPathogenic
Select item 150755	GRCh38/hg38 3p14.3-14.1(chr3:57430538-64884522)x1	ABHD6, ACOX2 +155 more	Copy number loss	See cases	GPathogenic
Select item 549590	NC_000003.12:g.57686154_57804308dup	DENND6A, DENND6A-DT +4 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 1262629	NM_001377540.1(SLMAP):c.-133G>A	SLMAP	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 516748	NM_001377540.1(SLMAP):c.-42=	SLMAP	Single nucleotide variant (no sequence alteration +1 more)	not specified	GLikely benign
Select item 942034	NM_001377540.1(SLMAP):c.4C>T (p.Pro2Ser)	SLMAP (P2S)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome +1 more	GUncertain significance
Select item 3226011	NM_001377540.1(SLMAP):c.9A>T (p.Ser3=)	SLMAP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1769346	NM_001377540.1(SLMAP):c.12C>T (p.Ala4=)	SLMAP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3320580	NM_001377540.1(SLMAP):c.17C>T (p.Ala6Val)	SLMAP (A6V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1472633	NM_001377540.1(SLMAP):c.31C>T (p.Arg11Cys)	SLMAP (R11C)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome	GUncertain significance
Select item 1731009	NM_001377540.1(SLMAP):c.33C>G (p.Arg11=)	SLMAP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3320578	NM_001377540.1(SLMAP):c.42G>A (p.Ser14=)	SLMAP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1154538	NM_001377540.1(SLMAP):c.42G>T (p.Ser14=)	SLMAP	Single nucleotide variant (synonymous variant +1 more)	Brugada syndrome +1 more	GLikely benign
Select item 2026718	NM_001377540.1(SLMAP):c.48G>A (p.Pro16=)	SLMAP	Single nucleotide variant (synonymous variant +1 more)	Brugada syndrome	GLikely benign
Select item 2562995	NM_001377540.1(SLMAP):c.62A>G (p.His21Arg)	SLMAP (H21R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1999754	NM_001377540.1(SLMAP):c.70C>T (p.Leu24=)	SLMAP	Single nucleotide variant (synonymous variant +1 more)	Brugada syndrome	GLikely benign
Select item 1603575	NM_001377540.1(SLMAP):c.72G>C (p.Leu24=)	SLMAP	Single nucleotide variant (synonymous variant +1 more)	Brugada syndrome +1 more	GLikely benign
Select item 532168	NM_001377540.1(SLMAP):c.75C>T (p.Asp25=)	SLMAP	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1763629	NM_001377540.1(SLMAP):c.84C>T (p.Ile28=)	SLMAP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1765789	NM_001377540.1(SLMAP):c.90C>T (p.Ile30=)	SLMAP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1134699	NM_001377540.1(SLMAP):c.93C>T (p.Gly31=)	SLMAP	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 3320573	NM_001377540.1(SLMAP):c.99A>G (p.Ser33=)	SLMAP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1768871	NM_001377540.1(SLMAP):c.99A>C (p.Ser33=)	SLMAP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2968678	NM_001377540.1(SLMAP):c.111T>C (p.Cys37=)	SLMAP	Single nucleotide variant (synonymous variant +1 more)	Brugada syndrome	GLikely benign
Select item 2100527	NM_001377540.1(SLMAP):c.113G>T (p.Arg38Leu)	SLMAP (R38L)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome	GUncertain significance
Select item 1413199	NM_001377540.1(SLMAP):c.119C>T (p.Ala40Val)	SLMAP (A40V)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome	GUncertain significance
Select item 2043213	NM_001377540.1(SLMAP):c.150G>A (p.Val50=)	SLMAP	Single nucleotide variant (synonymous variant +1 more)	Brugada syndrome	GLikely benign
Select item 1774389	NM_001377540.1(SLMAP):c.151C>G (p.Leu51Val)	SLMAP (L51V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 706882	NM_001377540.1(SLMAP):c.151C>T (p.Leu51=)	SLMAP	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1774788	NM_001377540.1(SLMAP):c.153A>G (p.Leu51=)	SLMAP	Single nucleotide variant (synonymous variant +1 more)	Brugada syndrome +1 more	GLikely benign
Select item 1776787	NM_001377540.1(SLMAP):c.162C>T (p.Asn54=)	SLMAP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2562984	NM_001377540.1(SLMAP):c.172G>C (p.Val58Leu)	SLMAP (V58L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1007972	NM_001377540.1(SLMAP):c.191C>T (p.Thr64Met)	SLMAP (T64M)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1466543	NM_001377540.1(SLMAP):c.192G>A (p.Thr64=)	SLMAP	Single nucleotide variant (synonymous variant +1 more)	Brugada syndrome	GLikely benign
Select item 2562987	NM_001377540.1(SLMAP):c.197A>G (p.Lys66Arg)	SLMAP (K66R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1006880	NM_001377540.1(SLMAP):c.198+5T>C	SLMAP	Single nucleotide variant (intron variant)	Brugada syndrome	GUncertain significance
Select item 1615365	NM_001377540.1(SLMAP):c.198+7T>A	SLMAP	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 1582268	NM_001377540.1(SLMAP):c.198+10C>T	SLMAP	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2999184	NM_001377540.1(SLMAP):c.198+13C>T	SLMAP	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 1651973	NM_001377540.1(SLMAP):c.199-16_199-15del	SLMAP	Deletion (intron variant)	Brugada syndrome	GLikely benign
Select item 1627698	NM_001377540.1(SLMAP):c.199-14G>A	SLMAP	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 1596022	NM_001377540.1(SLMAP):c.199-14G>T	SLMAP	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1284297	NM_001377540.1(SLMAP):c.199-5dup	SLMAP	Duplication (intron variant)	Brugada syndrome +1 more	GBenign
Select item 767028	NM_001377540.1(SLMAP):c.199-4G>T	SLMAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1785047	NM_001377540.1(SLMAP):c.204T>C (p.Tyr68=)	SLMAP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2777097	NM_001377540.1(SLMAP):c.205C>A (p.Leu69Ile)	SLMAP (L69I)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome	GUncertain significance
Select item 950178	NM_001377540.1(SLMAP):c.211G>T (p.Asp71Tyr)	SLMAP (D71Y)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome	GUncertain significance
Select item 1786544	NM_001377540.1(SLMAP):c.213C>T (p.Asp71=)	SLMAP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2447996	NM_001377540.1(SLMAP):c.230G>A (p.Gly77Asp)	SLMAP (G77D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1510283	NM_001377540.1(SLMAP):c.238A>G (p.Ile80Val)	SLMAP (I80V)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome	GUncertain significance
Select item 3320572	NM_001377540.1(SLMAP):c.246C>T (p.Ser82=)	SLMAP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 960612	NM_001377540.1(SLMAP):c.258T>G (p.Ser86Arg)	SLMAP (S86R)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome +1 more	GUncertain significance
Select item 1061506	NM_001377540.1(SLMAP):c.265T>G (p.Ser89Ala)	SLMAP (S89A)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome	GUncertain significance
Select item 2898191	NM_001377540.1(SLMAP):c.275G>A (p.Ser92Asn)	SLMAP (S92N)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome	GUncertain significance
Select item 1796308	NM_001377540.1(SLMAP):c.280C>G (p.Pro94Ala)	SLMAP (P94A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 697272	NM_001377540.1(SLMAP):c.297C>T (p.Ser99=)	SLMAP	Single nucleotide variant (synonymous variant +1 more)	Brugada syndrome +1 more	GBenign/Likely benign
Select item 1512636	NM_001377540.1(SLMAP):c.304A>G (p.Ile102Val)	SLMAP (I102V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1167354	NM_001377540.1(SLMAP):c.324C>T (p.Asp108=)	SLMAP	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 3226006	NM_001377540.1(SLMAP):c.328A>G (p.Thr110Ala)	SLMAP (T110A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1436920	NM_001377540.1(SLMAP):c.346+4C>T	SLMAP	Single nucleotide variant (non-coding transcript variant +1 more)	Brugada syndrome	GUncertain significance
Select item 1420803	NM_001377540.1(SLMAP):c.346+5G>A	SLMAP	Single nucleotide variant (non-coding transcript variant +1 more)	Brugada syndrome	GUncertain significance
Select item 1350391	NM_001377540.1(SLMAP):c.346+6G>T	SLMAP	Single nucleotide variant (non-coding transcript variant +1 more)	Brugada syndrome	GUncertain significance
Select item 2810479	NM_001377540.1(SLMAP):c.346+9A>G	SLMAP	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 1600589	NM_001377540.1(SLMAP):c.346+24dup	SLMAP	Duplication (intron variant)	Brugada syndrome	GBenign
Select item 1268180	NM_001377540.1(SLMAP):c.346+238A>G	SLMAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296356	NM_001377540.1(SLMAP):c.347-172G>A	SLMAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233161	NM_001377540.1(SLMAP):c.347-142A>G	SLMAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 411195	NM_001377540.1(SLMAP):c.347-1G>T	SLMAP	Single nucleotide variant (splice acceptor variant)	Brugada syndrome	GUncertain significance
Select item 1135512	NM_001377540.1(SLMAP):c.348T>C (p.Val116=)	SLMAP	Single nucleotide variant (synonymous variant +1 more)	Brugada syndrome	GLikely benign
Select item 3320575	NM_001377540.1(SLMAP):c.352C>T (p.His118Tyr)	SLMAP (H118Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2448000	NM_001377540.1(SLMAP):c.367T>G (p.Ser123Ala)	SLMAP (S123A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1734269	NM_001377540.1(SLMAP):c.371C>T (p.Thr124Ile)	SLMAP (T124I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1088518	NM_001377540.1(SLMAP):c.390A>G (p.Pro130=)	SLMAP	Single nucleotide variant (synonymous variant +1 more)	Brugada syndrome	GLikely benign
Select item 1736415	NM_001377540.1(SLMAP):c.394G>A (p.Gly132Ser)	SLMAP (G132S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 532076	NM_001377540.1(SLMAP):c.407G>A (p.Arg136Gln)	SLMAP (R136Q)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 2562983	NM_001377540.1(SLMAP):c.408G>C (p.Arg136=)	SLMAP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1585531	NM_001377540.1(SLMAP):c.408G>T (p.Arg136=)	SLMAP	Single nucleotide variant (synonymous variant +1 more)	Brugada syndrome +1 more	GLikely benign
Select item 1024832	NM_001377540.1(SLMAP):c.412C>T (p.Arg138Cys)	SLMAP (R138C)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome	GUncertain significance
Select item 2902389	NM_001377540.1(SLMAP):c.413G>C (p.Arg138Pro)	SLMAP (R138P)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome	GUncertain significance
Select item 2805176	NM_001377540.1(SLMAP):c.419+3G>A	SLMAP	Single nucleotide variant (intron variant)	Brugada syndrome	GUncertain significance
Select item 2715981	NM_001377540.1(SLMAP):c.419+18C>T	SLMAP	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 1556226	NM_001377540.1(SLMAP):c.419+29_419+39del	SLMAP	Deletion (intron variant)	Brugada syndrome	GBenign
Select item 1235285	NM_001377540.1(SLMAP):c.419+167A>G	SLMAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233467	NM_001377540.1(SLMAP):c.420-101C>T	SLMAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2150940	NM_001377540.1(SLMAP):c.420-17T>C	SLMAP	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2065992	NM_001377540.1(SLMAP):c.420-17T>A	SLMAP	Single nucleotide variant (intron variant)	Brugada syndrome	GBenign
Select item 1550391	NM_001377540.1(SLMAP):c.420-16A>T	SLMAP	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2706983	NM_001377540.1(SLMAP):c.421G>A (p.Val141Ile)	SLMAP (V141I)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome	GUncertain significance
Select item 3226007	NM_001377540.1(SLMAP):c.431C>T (p.Ala144Val)	SLMAP (A144V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2162779	NM_001377540.1(SLMAP):c.436_441del (p.Leu146_Pro147del)	SLMAP	Deletion (inframe_deletion +1 more)	Brugada syndrome +1 more	GUncertain significance
Select item 1739913	NM_001377540.1(SLMAP):c.434C>A (p.Pro145Gln)	SLMAP (P145Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2044278	NM_001377540.1(SLMAP):c.440C>G (p.Pro147Arg)	SLMAP (P147R)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2448007	NM_001377540.1(SLMAP):c.444T>C (p.Ser148=)	SLMAP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2197432	NM_001377540.1(SLMAP):c.456+17T>A	SLMAP	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 1589044	NM_001377540.1(SLMAP):c.457-15G>A	SLMAP	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2083515	NM_001377540.1(SLMAP):c.457-7T>C	SLMAP	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2696804	NM_001377540.1(SLMAP):c.465T>C (p.Ala155=)	SLMAP	Single nucleotide variant (synonymous variant +1 more)	Brugada syndrome	GLikely benign
Select item 2997930	NM_001377540.1(SLMAP):c.473C>T (p.Pro158Leu)	SLMAP (P158L)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome	GUncertain significance
Select item 3226008	NM_001377540.1(SLMAP):c.478A>G (p.Met160Val)	SLMAP (M160V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

<< First< Prev

Page of 6