6476[geneid] - ClinVar - NCBI

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	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 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 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 57993	GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3	ACTRT3, ARL14 +304 more	Copy number gain	See cases	GPathogenic
Select item 148527	GRCh38/hg38 3q26.1(chr3:161905309-165007994)x1	LINC01192, LINC01323 +25 more	Copy number loss	See cases	GUncertain significance
Select item 900515	NM_001041.3(SI):c.*473G>A	SI	Single nucleotide variant	Sucrase-isomaltase deficiency	GUncertain significance
Select item 343994	NM_001041.4(SI):c.*426G>A	SI	Single nucleotide variant (3 prime UTR variant)	Sucrase-isomaltase deficiency	GBenign
Select item 343995	NM_001041.4(SI):c.*314del	SI	Deletion (3 prime UTR variant)	Sucrase-isomaltase deficiency	GLikely benign
Select item 343996	NM_001041.4(SI):c.*229T>C	SI	Single nucleotide variant (3 prime UTR variant)	Sucrase-isomaltase deficiency	GUncertain significance
Select item 343997	NM_001041.4(SI):c.*217A>C	SI	Single nucleotide variant (3 prime UTR variant)	Sucrase-isomaltase deficiency	GUncertain significance
Select item 900516	NM_001041.4(SI):c.*198G>T	SI	Single nucleotide variant (3 prime UTR variant)	Sucrase-isomaltase deficiency	GBenign
Select item 900517	NM_001041.4(SI):c.*151A>G	SI	Single nucleotide variant (3 prime UTR variant)	Sucrase-isomaltase deficiency	GUncertain significance
Select item 900518	NM_001041.4(SI):c.*121C>T	SI	Single nucleotide variant (3 prime UTR variant)	Sucrase-isomaltase deficiency	GUncertain significance
Select item 343998	NM_001041.4(SI):c.*68T>C	SI	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 2900097	NM_001041.4(SI):c.5481A>G (p.Ser1827=)	SI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2001478	NM_001041.4(SI):c.5466A>C (p.Ile1822=)	SI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2005438	NM_001041.4(SI):c.5464A>G (p.Ile1822Val)	SI (I1822V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1510803	NM_001041.4(SI):c.5461C>T (p.Pro1821Ser)	SI (P1821S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2545642	NM_001041.4(SI):c.5460A>T (p.Glu1820Asp)	SI (E1820D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2109591	NM_001041.4(SI):c.5446G>A (p.Val1816Ile)	SI (V1816I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1937683	NM_001041.4(SI):c.5444_5445del (p.Asn1815fs)	SI (N1815fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1406546	NM_001041.4(SI):c.5428G>A (p.Asp1810Asn)	SI (D1810N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1549343	NM_001041.4(SI):c.5423G>A (p.Arg1808His)	SI (R1808H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2852871	NM_001041.4(SI):c.5416-14T>C	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1665341	NM_001041.4(SI):c.5415+20A>G	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956342	NM_001041.4(SI):c.5415+10G>A	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1669402	NM_001041.4(SI):c.5415+9T>C	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 343999	NM_001041.4(SI):c.5405C>G (p.Thr1802Ser)	SI (T1802S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 902174	NM_001041.4(SI):c.5403C>T (p.Asp1801=)	SI	Single nucleotide variant (synonymous variant)	Sucrase-isomaltase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2627953	NM_001041.4(SI):c.5393T>G (p.Phe1798Cys)	SI (F1798C)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency +1 more	GUncertain significance
Select item 2956162	NM_001041.4(SI):c.5385G>T (p.Ser1795=)	SI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1569205	NM_001041.4(SI):c.5385G>A (p.Ser1795=)	SI	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1596932	NM_001041.4(SI):c.5384C>T (p.Ser1795Leu)	SI (S1795L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2957581	NM_001041.4(SI):c.5379A>G (p.Lys1793=)	SI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1391209	NM_001041.4(SI):c.5375A>G (p.Asn1792Ser)	SI (N1792S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1905769	NM_001041.4(SI):c.5370C>T (p.Asn1790=)	SI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1479786	NM_001041.4(SI):c.5370C>A (p.Asn1790Lys)	SI (N1790K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 344000	NM_001041.4(SI):c.5367T>C (p.Tyr1789=)	SI	Single nucleotide variant (synonymous variant)	Sucrase-isomaltase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1986019	NM_001041.4(SI):c.5364G>A (p.Thr1788=)	SI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1552929	NM_001041.4(SI):c.5363C>T (p.Thr1788Met)	SI (T1788M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1576552	NM_001041.4(SI):c.5346C>G (p.Val1782=)	SI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1955964	NM_001041.4(SI):c.5332G>A (p.Gly1778Arg)	SI (G1778R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2135895	NM_001041.4(SI):c.5324G>T (p.Trp1775Leu)	SI (W1775L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2107376	NM_001041.4(SI):c.5323T>C (p.Trp1775Arg)	SI (W1775R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 902175	NM_001041.4(SI):c.5320G>A (p.Val1774Ile)	SI (V1774I)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency +1 more	GUncertain significance
Select item 902176	NM_001041.4(SI):c.5319T>C (p.His1773=)	SI	Single nucleotide variant (synonymous variant)	Sucrase-isomaltase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2809689	NM_001041.4(SI):c.5307T>C (p.Leu1769=)	SI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 902177	NM_001041.4(SI):c.5304G>A (p.Arg1768=)	SI	Single nucleotide variant (synonymous variant)	Sucrase-isomaltase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 902178	NM_001041.4(SI):c.5301G>A (p.Thr1767=)	SI	Single nucleotide variant (synonymous variant)	Sucrase-isomaltase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 903056	NM_001041.4(SI):c.5300C>T (p.Thr1767Met)	SI (T1767M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 903058	NM_001041.4(SI):c.5279G>A (p.Gly1760Asp)	SI (G1760D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 903057	NM_001041.4(SI):c.5279G>T (p.Gly1760Val)	SI (G1760V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2293074	NM_001041.4(SI):c.5273A>G (p.Lys1758Arg)	SI (K1758R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1909045	NM_001041.4(SI):c.5267T>C (p.Ile1756Thr)	SI (I1756T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1351358	NM_001041.4(SI):c.5266A>G (p.Ile1756Val)	SI (I1756V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2159762	NM_001041.4(SI):c.5252C>T (p.Thr1751Ile)	SI (T1751I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1485022	NM_001041.4(SI):c.5248-2A>C	SI	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1514680	NM_001041.4(SI):c.5248-14_5248-9del	SI	Deletion (intron variant)	not provided	GLikely benign
Select item 1538931	NM_001041.4(SI):c.5248-12C>T	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1564921	NM_001041.4(SI):c.5248-13T>C	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1668249	NM_001041.4(SI):c.5248-18C>T	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1602733	NM_001041.4(SI):c.5248-19C>T	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1942240	NM_001041.4(SI):c.5248-20T>C	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1643729	NM_001041.4(SI):c.5247+17A>G	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1638276	NM_001041.4(SI):c.5247+11T>C	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2096620	NM_001041.4(SI):c.5247+5G>A	SI	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1166088	NM_001041.4(SI):c.5247+3A>T	SI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2123641	NM_001041.4(SI):c.5247G>A (p.Gln1749=)	SI	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1125936	NM_001041.4(SI):c.5245C>A (p.Gln1749Lys)	SI (Q1749K)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1417	NM_001041.4(SI):c.5234T>G (p.Phe1745Cys)	SI (F1745C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3031912	NM_001041.4(SI):c.5217A>G (p.Leu1739=)	SI	Single nucleotide variant (synonymous variant)	SI-related disorder	GLikely benign
Select item 2080327	NM_001041.4(SI):c.5212G>A (p.Asp1738Asn)	SI (D1738N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1959230	NM_001041.4(SI):c.5212G>T (p.Asp1738Tyr)	SI (D1738Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1380041	NM_001041.4(SI):c.5209A>G (p.Arg1737Gly)	SI (R1737G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2818335	NM_001041.4(SI):c.5199C>T (p.Asp1733=)	SI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1598052	NM_001041.4(SI):c.5198-4A>G	SI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1669109	NM_001041.4(SI):c.5198-7T>C	SI	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1165342	NM_001041.4(SI):c.5198-20dup	SI	Duplication (intron variant)	not specified +2 more	GBenign
Select item 1902643	NM_001041.4(SI):c.5198-13del	SI	Deletion (intron variant)	not provided	GBenign
Select item 1092969	NM_001041.4(SI):c.5198-14T>C	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1598819	NM_001041.4(SI):c.5198-17T>C	SI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1935970	NM_001041.4(SI):c.5197+17G>C	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2831197	NM_001041.4(SI):c.5197+12dup	SI	Duplication (intron variant)	not provided	GLikely benign
Select item 2807943	NM_001041.4(SI):c.5197+13T>C	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2789168	NM_001041.4(SI):c.5197+12A>C	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1990847	NM_001041.4(SI):c.5197+11G>A	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1906940	NM_001041.4(SI):c.5197+10C>T	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 344001	NM_001041.4(SI):c.5197+8C>T	SI	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2056004	NM_001041.4(SI):c.5193T>C (p.Ser1731=)	SI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2763730	NM_001041.4(SI):c.5163G>A (p.Gln1721=)	SI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3318431	NM_001041.4(SI):c.5162A>G (p.Gln1721Arg)	SI (Q1721R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1471799	NM_001041.4(SI):c.5144A>G (p.Asp1715Gly)	SI (D1715G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1713401	NM_001041.4(SI):c.5134G>A (p.Val1712Ile)	SI (V1712I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009687	NM_001041.4(SI):c.5127G>A (p.Lys1709=)	SI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2108532	NM_001041.4(SI):c.5118del (p.Lys1706fs)	SI (K1706fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2100524	NM_001041.4(SI):c.5113C>T (p.Gln1705Ter)	SI (Q1705*)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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