11621[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic
Select item 58232	GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3	LOC130008976, LOC130008977 +264 more	Copy number gain	See cases	GUncertain significance
Select item 57609	GRCh38/hg38 12q24.31(chr12:120504068-122459718)x1	ACADS, ANAPC5 +175 more	Copy number loss	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 154387	GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1	AACS, ABCB9 +416 more	Copy number loss	See cases	GPathogenic
Select item 1336397	NM_000545.6(HNF1A):c.-567G>A	HNF1A	Single nucleotide variant	not specified	GUncertain significance
Select item 387364	NM_000545.6(HNF1A):c.-527C>T	HNF1A	Single nucleotide variant	Maturity onset diabetes mellitus in young +1 more	GBenign/Likely benign
Select item 449034	NC_000012.12:g.120978302C>T	HNF1A	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 675908	NM_000545.5(HNF1A):c.-400C>T	HNF1A	Single nucleotide variant	Maturity onset diabetes mellitus in young +1 more	GLikely benign
Select item 389514	NM_000545.5(HNF1A):c.-347G>A	HNF1A	Single nucleotide variant	not specified +1 more	GLikely benign
Select item 1336220	NM_000545.6(HNF1A):c.-343del	HNF1A	Deletion	not specified	GUncertain significance
Select item 1338391	NM_000545.6(HNF1A):c.-291T>C	HNF1A	Single nucleotide variant	not specified	GUncertain significance
Select item 1342946	Single allele	HNF1A	Single nucleotide variant (genic upstream transcript variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 1676714	Single allele	HNF1A	Deletion (genic upstream transcript variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 14933	NG_011731.2:g.4741A>C	HNF1A	Single nucleotide variant (genic upstream transcript variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 2443566	NC_000012.12:g.120978487A>G	HNF1A	Single nucleotide variant	not provided	GUncertain significance
Select item 1697171	NC_000012.12:g.120978493A>G	HNF1A	Single nucleotide variant	not provided	GUncertain significance
Select item 1342947	NC_000012.12:g.120978511A>G	HNF1A	Single nucleotide variant (genic upstream transcript variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 1327603	NM_000545.8(HNF1A):c.-218T>C	HNF1A	Single nucleotide variant (5 prime UTR variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 3068494	NM_000545.8(HNF1A):c.-215A>G	HNF1A	Single nucleotide variant (5 prime UTR variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 1327602	NM_000545.8(HNF1A):c.-187C>A	HNF1A	Single nucleotide variant (5 prime UTR variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 1327601	NM_000545.8(HNF1A):c.-187C>T	HNF1A	Single nucleotide variant (5 prime UTR variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 1315708	NM_000545.8(HNF1A):c.-181G>A	HNF1A	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 288582	NM_000545.8(HNF1A):c.-167TGGGGGT[3]	HNF1A	Microsatellite (5 prime UTR variant)	Monogenic diabetes	GBenign FDA Recognized database
Select item 3063819	NM_000545.8(HNF1A):c.-148C>A	HNF1A	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 14936	NM_000545.8(HNF1A):c.-119del	HNF1A	Deletion (5 prime UTR variant)	Maturity-onset diabetes of the young type 3	GPathogenic
Select item 1677814	NM_000545.8(HNF1A):c.-124G>A	HNF1A	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1320426	NM_000545.8(HNF1A):c.-124G>C	HNF1A	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2898303	NM_000545.8(HNF1A):c.-123G>A	HNF1A	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 3350786	NM_000545.8(HNF1A):c.-119G>A	HNF1A	Single nucleotide variant (5 prime UTR variant)	HNF1A-related disorder	GUncertain significance
Select item 1204628	NM_000545.8(HNF1A):c.-96T>G	HNF1A	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1203907	NM_000545.8(HNF1A):c.-89T>C	HNF1A	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3353060	NM_000545.8(HNF1A):c.-71C>T	HNF1A	Single nucleotide variant (5 prime UTR variant)	HNF1A-related disorder	GLikely benign
Select item 2137829	NM_000545.8(HNF1A):c.-62C>G	HNF1A	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2036493	NM_000545.8(HNF1A):c.-61G>A	HNF1A	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 3366772	NM_000545.8(HNF1A):c.-30C>T	HNF1A	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 1337070	NM_000545.8(HNF1A):c.-29G>A	HNF1A	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign/Likely benign
Select item 307454	NM_000545.8(HNF1A):c.-6C>T	HNF1A	Single nucleotide variant (5 prime UTR variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 447495	NM_000545.8(HNF1A):c.-5G>A	HNF1A	Single nucleotide variant (5 prime UTR variant)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 447492	NM_000545.8(HNF1A):c.-4A>G	HNF1A	Single nucleotide variant (5 prime UTR variant)	Maturity-onset diabetes of the young type 3 +4 more	GConflicting classifications of pathogenicity
Select item 1342948	NM_000545.8(HNF1A):c.1A>C (p.Met1Leu)	HNF1A (M1L)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 502525	NM_000545.8(HNF1A):c.1A>T (p.Met1Leu)	HNF1A (M1L)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 36814	NM_000545.8(HNF1A):c.1A>G (p.Met1Val)	HNF1A (M1V)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1342949	NM_000545.8(HNF1A):c.2T>C (p.Met1Thr)	HNF1A (M1T)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 447493	NM_000545.8(HNF1A):c.4del (p.Val2fs)	HNF1A (V2fs)	Deletion (frameshift variant +1 more)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1475317	NM_000545.8(HNF1A):c.4G>A (p.Val2Ile)	HNF1A (V2I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909022	NM_000545.8(HNF1A):c.13C>T (p.Leu5=)	HNF1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1342945	NM_000545.8(HNF1A):c.14T>G (p.Leu5Arg)	HNF1A (L5R)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 1342950	NM_000545.8(HNF1A):c.16A>T (p.Ser6Cys)	HNF1A (S6C)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1342951	NM_000545.8(HNF1A):c.17G>A (p.Ser6Asn)	HNF1A (S6N)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1256572	NM_000545.8(HNF1A):c.17G>T (p.Ser6Ile)	HNF1A (S6I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1338407	NM_000545.8(HNF1A):c.24_35dup (p.Gln9_Leu12dup)	HNF1A	Duplication (inframe_insertion)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 562372	NM_000545.8(HNF1A):c.19C>T (p.Gln7Ter)	HNF1A (Q7*)	Single nucleotide variant (nonsense)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1675057	NM_000545.8(HNF1A):c.22C>A (p.Leu8Met)	HNF1A (L8M)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 1675060	NM_000545.8(HNF1A):c.25C>T (p.Gln9Ter)	HNF1A (Q9*)	Single nucleotide variant (nonsense)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1679550	NM_000545.8(HNF1A):c.26A>T (p.Gln9Leu)	HNF1A (Q9L)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 3	GLikely pathogenic
Select item 1342958	NM_000545.8(HNF1A):c.26A>C (p.Gln9Pro)	HNF1A (Q9P)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 994546	NM_000545.8(HNF1A):c.26A>G (p.Gln9Arg)	HNF1A (Q9R)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 1675061	NM_000545.8(HNF1A):c.28A>C (p.Thr10Pro)	HNF1A (T10P)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 435422	NM_000545.8(HNF1A):c.29C>T (p.Thr10Met)	HNF1A (T10M)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 1727227	NM_000545.8(HNF1A):c.30G>T (p.Thr10=)	HNF1A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 307455	NM_000545.8(HNF1A):c.30G>A (p.Thr10=)	HNF1A	Single nucleotide variant (synonymous variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 1675063	NM_000545.8(HNF1A):c.34C>T (p.Leu12Phe)	HNF1A (L12F)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1675062	NM_000545.8(HNF1A):c.34C>G (p.Leu12Val)	HNF1A (L12V)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1675051	NM_000545.8(HNF1A):c.35T>G (p.Leu12Arg)	HNF1A (L12R)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1675050	NM_000545.8(HNF1A):c.35T>C (p.Leu12Pro)	HNF1A (L12P)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 1675049	NM_000545.8(HNF1A):c.35T>A (p.Leu12His)	HNF1A (L12H)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 1675052	NM_000545.8(HNF1A):c.41C>T (p.Ala14Val)	HNF1A (A14V)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 1675053	NM_000545.8(HNF1A):c.42_51delinsTG (p.Ala15fs)	HNF1A (A15fs)	Indel (frameshift variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 307456	NM_000545.8(HNF1A):c.42G>A (p.Ala14=)	HNF1A	Single nucleotide variant (synonymous variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 1727230	NM_000545.8(HNF1A):c.43G>A (p.Ala15Thr)	HNF1A (A15T)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GLikely risk allele
Select item 915441	NM_000545.8(HNF1A):c.43G>T (p.Ala15Ser)	HNF1A (A15S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1327594	NM_000545.8(HNF1A):c.44C>T (p.Ala15Val)	HNF1A (A15V)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 1675054	NM_000545.8(HNF1A):c.46C>G (p.Leu16Val)	HNF1A (L16V)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 1675055	NM_000545.8(HNF1A):c.47T>C (p.Leu16Pro)	HNF1A (L16P)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 1675056	NM_000545.8(HNF1A):c.49C>G (p.Leu17Val)	HNF1A (L17V)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 972749	NM_000545.8(HNF1A):c.50T>A (p.Leu17His)	HNF1A (L17H)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 3030148	NM_000545.8(HNF1A):c.51C>T (p.Leu17=)	HNF1A	Single nucleotide variant (synonymous variant)	HNF1A-related disorder	GLikely benign
Select item 129234	NM_000545.8(HNF1A):c.51C>G (p.Leu17=)	HNF1A	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 929078	NM_000545.8(HNF1A):c.52G>T (p.Glu18Ter)	HNF1A (E18*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 418252	NM_000545.8(HNF1A):c.55T>G (p.Ser19Ala)	HNF1A (S19A)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 918071	NM_000545.8(HNF1A):c.56C>T (p.Ser19Leu)	HNF1A (S19L)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 1327599	NM_000545.8(HNF1A):c.58G>C (p.Gly20Arg)	HNF1A (G20R)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1033090	NM_000545.8(HNF1A):c.58G>A (p.Gly20Arg)	HNF1A (G20R)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1327598	NM_000545.8(HNF1A):c.59G>A (p.Gly20Glu)	HNF1A (G20E)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1327597	NM_000545.8(HNF1A):c.59G>C (p.Gly20Ala)	HNF1A (G20A)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 562409	NM_000545.8(HNF1A):c.59G>T (p.Gly20Val)	HNF1A (G20V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1727232	NM_000545.8(HNF1A):c.60G>T (p.Gly20=)	HNF1A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GBenign
Select item 882460	NM_000545.8(HNF1A):c.60G>C (p.Gly20=)	HNF1A	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 3	GUncertain significance
Select item 2022553	NM_000545.8(HNF1A):c.63G>T (p.Leu21=)	HNF1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2581122	NM_000545.8(HNF1A):c.66C>G (p.Ser22Arg)	HNF1A (S22R)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 3338658	NM_000545.8(HNF1A):c.68_69del (p.Lys23fs)	HNF1A (K23fs)	Deletion (frameshift variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1675058	NM_000545.8(HNF1A):c.71_72del (p.Glu24fs)	HNF1A (E24fs)	Microsatellite (frameshift variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1675059	NM_000545.8(HNF1A):c.73G>C (p.Ala25Pro)	HNF1A (A25P)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 134506	NM_000545.8(HNF1A):c.73G>A (p.Ala25Thr)	HNF1A (A25T)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 2581317	NM_000545.8(HNF1A):c.77T>G (p.Leu26Arg)	HNF1A (L26R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1676683	NM_000545.8(HNF1A):c.77T>C (p.Leu26Pro)	HNF1A (L26P)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database

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