ClinVar for Gene (Select 9154) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3319401	NM_004213.5(SLC28A1):c.860A>G (p.Gln287Arg)	SLC28A1 (Q287R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319400	NM_004213.5(SLC28A1):c.275C>T (p.Thr92Ile)	SLC28A1 (T92I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319399	NM_004213.5(SLC28A1):c.524G>A (p.Arg175Gln)	SLC28A1 (R175Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319398	NM_004213.5(SLC28A1):c.1892G>A (p.Ser631Asn)	SLC28A1 (S465N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319396	NM_004213.5(SLC28A1):c.437C>T (p.Pro146Leu)	SLC28A1 (P146L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319395	NM_004213.5(SLC28A1):c.1711C>T (p.Arg571Trp)	SLC28A1 (R405W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164020	NM_004213.5(SLC28A1):c.754G>A (p.Val252Met)	SLC28A1 (V252M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164019	NM_004213.5(SLC28A1):c.686T>C (p.Ile229Thr)	SLC28A1 (I229T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164018	NM_004213.5(SLC28A1):c.512A>G (p.Asp171Gly)	SLC28A1 (D171G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164017	NM_004213.5(SLC28A1):c.464G>T (p.Gly155Val)	SLC28A1 (G155V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164015	NM_004213.5(SLC28A1):c.302C>T (p.Ala101Val)	SLC28A1 (A101V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164014	NM_004213.5(SLC28A1):c.1795G>C (p.Asp599His)	SLC28A1 (D599H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164013	NM_004213.5(SLC28A1):c.1751C>G (p.Ala584Gly)	SLC28A1 (A584G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164012	NM_004213.5(SLC28A1):c.167C>T (p.Pro56Leu)	SLC28A1 (P56L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164011	NM_004213.5(SLC28A1):c.167C>G (p.Pro56Arg)	SLC28A1 (P56R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164009	NM_004213.5(SLC28A1):c.1264G>A (p.Val422Met)	SLC28A1 (V422M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164008	NM_004213.5(SLC28A1):c.1064G>A (p.Gly355Asp)	SLC28A1 (G355D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164007	NM_004213.5(SLC28A1):c.1039G>A (p.Ala347Thr)	SLC28A1 (A347T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148856	GRCh37/hg19 15q25.2-25.3(chr15:84910816-85790661)x1	ALPK3, NMB +6 more	Copy number loss	not provided	GUncertain significance
Select item 3068178	NM_004213.5(SLC28A1):c.1368del (p.Leu458fs)	SLC28A1 (L458fs)	Deletion (frameshift variant +1 more)	Uridine-cytidineuria	GUncertain significance
Select item 3060423	NM_004213.5(SLC28A1):c.958-9T>C	SLC28A1	Single nucleotide variant (intron variant)	SLC28A1-related disorder	GBenign
Select item 3060168	NM_004213.5(SLC28A1):c.1017C>T (p.His339=)	SLC28A1	Single nucleotide variant (synonymous variant)	SLC28A1-related disorder	GBenign
Select item 3060136	NM_004213.5(SLC28A1):c.1368A>G (p.Gln456=)	SLC28A1	Single nucleotide variant (synonymous variant +1 more)	SLC28A1-related disorder	GBenign
Select item 3060075	NM_004213.5(SLC28A1):c.419_420insTGT (p.Leu140_Lys141insVal)	SLC28A1	Insertion	SLC28A1-related disorder	GBenign
Select item 3059875	NM_004213.5(SLC28A1):c.1149G>A (p.Lys383=)	SLC28A1	Single nucleotide variant (synonymous variant +1 more)	SLC28A1-related disorder	GBenign
Select item 3059692	NM_004213.5(SLC28A1):c.565G>A (p.Val189Ile)	SLC28A1 (V189I)	Single nucleotide variant (missense variant)	SLC28A1-related disorder	GBenign
Select item 3059229	NM_004213.5(SLC28A1):c.1561G>A (p.Asp521Asn)	SLC28A1 (D521N)	Single nucleotide variant (missense variant +1 more)	SLC28A1-related disorder	GBenign
Select item 3059004	NM_004213.5(SLC28A1):c.709C>A (p.Gln237Lys)	SLC28A1 (Q237K)	Single nucleotide variant (missense variant)	SLC28A1-related disorder	GBenign
Select item 3057041	NM_001321721.2(SLC28A1):c.1587A>T (p.Arg529=)	SLC28A1	Single nucleotide variant (synonymous variant +1 more)	SLC28A1-related disorder	GBenign
Select item 3056473	NM_004213.5(SLC28A1):c.97-10C>T	SLC28A1	Single nucleotide variant (intron variant)	SLC28A1-related disorder	GLikely benign
Select item 3056019	NM_004213.5(SLC28A1):c.1874+7dup	SLC28A1	Duplication (intron variant)	SLC28A1-related disorder	GBenign
Select item 3055828	NM_001321721.2(SLC28A1):c.1582-4G>C	SLC28A1	Single nucleotide variant (intron variant)	SLC28A1-related disorder	GBenign
Select item 3053484	NM_004213.5(SLC28A1):c.1098G>A (p.Ser366=)	SLC28A1	Single nucleotide variant (synonymous variant +1 more)	SLC28A1-related disorder	GLikely benign
Select item 3052972	NM_004213.5(SLC28A1):c.*8A>G	SLC28A1	Single nucleotide variant (3 prime UTR variant +1 more)	SLC28A1-related disorder	GBenign
Select item 3048865	NM_004213.5(SLC28A1):c.461+297C>G	SLC28A1	Single nucleotide variant (synonymous variant +1 more)	SLC28A1-related disorder	GLikely benign
Select item 3043971	NM_004213.5(SLC28A1):c.128G>A (p.Ser43Asn)	SLC28A1 (S43N)	Single nucleotide variant (missense variant)	SLC28A1-related disorder	GBenign
Select item 3043807	NM_004213.5(SLC28A1):c.1875-8C>G	SLC28A1	Single nucleotide variant (intron variant)	SLC28A1-related disorder	GBenign
Select item 3043583	NM_004213.5(SLC28A1):c.1405C>A (p.Arg469=)	SLC28A1	Single nucleotide variant (synonymous variant +1 more)	SLC28A1-related disorder	GBenign
Select item 3042968	NM_004213.5(SLC28A1):c.835G>A (p.Val279Ile)	SLC28A1 (V279I)	Single nucleotide variant (missense variant)	SLC28A1-related disorder	GLikely benign
Select item 3042333	NM_004213.5(SLC28A1):c.124T>C (p.Leu42=)	SLC28A1	Single nucleotide variant (synonymous variant)	SLC28A1-related disorder	GBenign
Select item 3041811	NM_004213.5(SLC28A1):c.568G>T (p.Ala190Ser)	SLC28A1 (A190S)	Single nucleotide variant (missense variant)	SLC28A1-related disorder	GBenign
Select item 3039273	NM_001321722.2(SLC28A1):c.1902C>T (p.Ser634=)	SLC28A1	Single nucleotide variant (3 prime UTR variant +1 more)	SLC28A1-related disorder	GBenign
Select item 3039253	NM_004213.5(SLC28A1):c.796-5G>A	SLC28A1	Single nucleotide variant (intron variant)	SLC28A1-related disorder	GBenign
Select item 2684768	GRCh37/hg19 15q25.3(chr15:85363198-85619122)x3	ALPK3, PDE8A +1 more	Copy number gain	not provided	GUncertain significance
Select item 2684767	GRCh37/hg19 15q25.2-25.3(chr15:85084471-85724984)x3	ALPK3, NMB +6 more	Copy number gain	not provided	GUncertain significance
Select item 2684766	GRCh37/hg19 15q25.2-25.3(chr15:83169558-85779567)x3	ADAMTSL3, ALPK3 +19 more	Copy number gain	not provided	GUncertain significance
Select item 2645652	NM_004213.5(SLC28A1):c.440G>A (p.Arg147His)	SLC28A1 (R147H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2617135	NM_004213.5(SLC28A1):c.1076C>G (p.Ser359Cys)	SLC28A1 (S359C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609955	NM_004213.5(SLC28A1):c.1768C>T (p.Leu590Phe)	SLC28A1 (L590F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609469	NM_004213.5(SLC28A1):c.1208C>G (p.Thr403Ser)	SLC28A1 (T403S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2546904	NM_004213.5(SLC28A1):c.758T>C (p.Phe253Ser)	SLC28A1 (F253S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542721	NM_004213.5(SLC28A1):c.592C>T (p.His198Tyr)	SLC28A1 (H198Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524593	NM_004213.5(SLC28A1):c.386A>C (p.Lys129Thr)	SLC28A1 (K129T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506555	GRCh37/hg19 15q25.2-25.3(chr15:84908070-85681134)	ALPK3, NMB +6 more	Copy number loss	WDR73-related disorder	GPathogenic
Select item 2498631	GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3	ABHD2, ACAN +86 more	Copy number gain	not provided	GPathogenic
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 2397797	NM_004213.5(SLC28A1):c.715C>T (p.Arg239Trp)	SLC28A1 (R239W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396467	NM_004213.5(SLC28A1):c.1781G>A (p.Arg594Lys)	SLC28A1 (R428K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375988	NM_004213.5(SLC28A1):c.601G>A (p.Ala201Thr)	SLC28A1 (A201T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372728	NM_004213.5(SLC28A1):c.1160C>T (p.Pro387Leu)	SLC28A1 (P387L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360388	NM_004213.5(SLC28A1):c.612G>C (p.Trp204Cys)	SLC28A1 (W204C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357084	NM_004213.5(SLC28A1):c.1918C>T (p.Arg640Trp)	SLC28A1 (R640W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344114	NM_004213.5(SLC28A1):c.1389C>G (p.Ile463Met)	SLC28A1 (I463M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322523	NM_004213.5(SLC28A1):c.1301C>T (p.Ala434Val)	SLC28A1 (A434V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289985	NM_004213.5(SLC28A1):c.1366C>G (p.Gln456Glu)	SLC28A1 (Q456E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289419	NM_004213.5(SLC28A1):c.1532G>A (p.Arg511His)	SLC28A1 (R511H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279721	NM_004213.5(SLC28A1):c.71T>A (p.Met24Lys)	SLC28A1 (M24K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279720	NM_004213.5(SLC28A1):c.70A>C (p.Met24Leu)	SLC28A1 (M24L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259702	NM_004213.5(SLC28A1):c.376C>T (p.Arg126Cys)	SLC28A1 (R126C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253989	NM_004213.5(SLC28A1):c.331G>A (p.Ala111Thr)	SLC28A1 (A111T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244136	NM_004213.5(SLC28A1):c.448C>A (p.Leu150Ile)	SLC28A1 (L150I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231127	NM_004213.5(SLC28A1):c.919G>A (p.Glu307Lys)	SLC28A1 (E307K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229550	NM_004213.5(SLC28A1):c.1489G>A (p.Glu497Lys)	SLC28A1 (E497K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216580	NM_004213.5(SLC28A1):c.1269G>C (p.Lys423Asn)	SLC28A1 (K423N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1809087	GRCh37/hg19 15q25.2-25.3(chr15:84910816-85786847)x1	ALPK3, NMB +6 more	Copy number loss	not provided	GUncertain significance
Select item 1808235	GRCh37/hg19 15q25.2-25.3(chr15:85084471-85528298)x3	ALPK3, NMB +6 more	Copy number gain	not provided	GUncertain significance
Select item 1807730	GRCh37/hg19 15q25.2-25.3(chr15:84827469-85786847)x1	ALPK3, NMB +6 more	Copy number loss	not provided	GLikely pathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980541	GRCh37/hg19 15q25.2-25.3(chr15:85089553-85876582)x3	WDR73, ALPK3 +6 more	Copy number gain	not provided	GUncertain significance
Select item 980540	GRCh37/hg19 15q25.2-25.3(chr15:83201955-85786847)x1	ADAMTSL3, ALPK3 +19 more	Copy number loss	not provided	GPathogenic
Select item 815740	GRCh37/hg19 15q25.2-25.3(chr15:84928663-85786847)x1	ALPK3, NMB +6 more	Copy number loss	not provided	GLikely pathogenic
Select item 780006	NM_004213.5(SLC28A1):c.630A>T (p.Gly210=)	SLC28A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776941	NM_004213.5(SLC28A1):c.9C>T (p.Asn3=)	SLC28A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687710	GRCh37/hg19 15q25.2-25.3(chr15:84884801-85724984)x1	ALPK3, NMB +6 more	Copy number loss	not provided	GPathogenic
Select item 634889	NM_004213.5(SLC28A1):c.1682G>A (p.Arg561Gln)	SLC28A1 (R561Q +1 more)	Single nucleotide variant (missense variant +1 more)	Uridine-cytidineuria	GAffects
Select item 634888	NM_004213.5(SLC28A1):c.1528C>T (p.Arg510Cys)	SLC28A1 (R510C)	Single nucleotide variant (missense variant +1 more)	Uridine-cytidineuria +1 more	GBenign; Affects
Select item 634887	NM_004213.5(SLC28A1):c.1636T>C (p.Ser546Pro)	SLC28A1 (S546P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 625752	GRCh37/hg19 15q25.2-25.3(chr15:85147499-85681120)	ALPK3, NMB +6 more	Copy number loss	not provided	GLikely pathogenic
Select item 625751	GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844)	ABHD2, ACAN +58 more	Copy number loss	not provided	GPathogenic
Select item 623418	NM_004213.5(SLC28A1):c.1013T>C (p.Val338Ala)	SLC28A1 (V338A)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 564223	GRCh37/hg19 15q25.1-25.3(chr15:79023343-87158823)x1,2	ABHD17C, ADAMTS7 +49 more	Copy number gain	not provided	GPathogenic
Select item 564221	GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3	ABHD17C, ABHD2 +143 more	Copy number gain	not provided	GPathogenic
Select item 564214	GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	ABHD17C, ABHD2 +215 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 560037	Single allele	ALPK3, LINC00933 +39 more	Deletion	not provided	GUncertain significance
Select item 523252	GRCh37/hg19 15q25.2-25.3(chr15:85149690-85666309)	WDR73, ALPK3 +6 more	Copy number loss	Hearing impairment +1 more	GUncertain significance
Select item 503593	GRCh37/hg19 15q25.2-25.3(chr15:85172183-85680021)x3	NMB, ALPK3 +5 more	Copy number gain	See cases	GUncertain significance
Select item 443753	GRCh37/hg19 15q25.2-25.3(chr15:84928829-85724984)x1	ALPK3, NMB +6 more	Copy number loss	See cases	GUncertain significance

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