1056[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MED27, MIGA2 +789 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	ABL1, ABO +536 more	Copy number gain	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC130003057, LOC130003058 +656 more	Copy number gain	See cases	GPathogenic
Select item 3238673	GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	LOC124375238, LOC124375239 +569 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238671	GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	GBGT1, GLT6D1 +552 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238668	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238667	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	LOC130002921, LOC130002922 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238666	GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	LOC121366034, LOC121366035 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238664	GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	SARDH, SEC16A +568 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238663	GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC130003026, LOC130003027 +530 more	Copy number gain	See cases	GPathogenic
Select item 147626	GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	ABCA2, ABO +510 more	Copy number gain	See cases	GPathogenic
Select item 1803925	Single allele	CEL	Duplication	Maturity-onset diabetes of the young type 8	GUncertain significance
Select item 2659662	NC_000009.12:g.133060642T>C	CEL	Single nucleotide variant	not provided	GBenign
Select item 2659663	NC_000009.12:g.133060938C>T	CEL	Single nucleotide variant	not provided	GLikely benign
Select item 1803886	Single allele	CEL	Deletion	Maturity-onset diabetes of the young type 8	GUncertain significance
Select item 1803880	Single allele	CEL	Deletion	Maturity-onset diabetes of the young type 8	GUncertain significance
Select item 1219499	NC_000009.12:g.133061658G>A	CEL	Single nucleotide variant	not provided	GLikely benign
Select item 1210591	NC_000009.12:g.133061797G>A	CEL	Single nucleotide variant	not provided	GLikely benign
Select item 1182134	NC_000009.12:g.133061890G>T	CEL	Single nucleotide variant	not provided	GBenign
Select item 1337108	NM_001807.6(CEL):c.-13G>A	CEL	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 218596	NM_001807.6(CEL):c.7C>T (p.Arg3Cys)	CEL (R3C)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 3371133	NM_001807.6(CEL):c.11T>C (p.Leu4Pro)	CEL (L4P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1196243	NM_001807.6(CEL):c.54G>A (p.Ala18=)	CEL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1200172	NM_001807.6(CEL):c.61G>T (p.Ala21Ser)	CEL (A21S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1188243	NM_001807.6(CEL):c.67-306C>T	CEL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267374	NM_001807.6(CEL):c.67-121A>C	CEL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199974	NM_001807.6(CEL):c.67-46C>T	CEL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186605	NM_001807.6(CEL):c.67-26del	CEL	Deletion (intron variant)	not provided	GLikely benign
Select item 2456712	NM_001807.6(CEL):c.73G>A (p.Ala25Thr)	CEL (A25T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556337	NM_001807.6(CEL):c.85G>A (p.Glu29Lys)	CEL (E29K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1337109	NM_001807.6(CEL):c.99G>C (p.Val33=)	CEL	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 8 +1 more	GLikely benign
Select item 1336526	NM_001807.6(CEL):c.132T>C (p.Gly44=)	CEL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1338603	NM_001807.6(CEL):c.178A>G (p.Lys60Glu)	CEL (K60E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2921090	NM_001807.6(CEL):c.203A>T (p.His68Leu)	CEL (H68L)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 8	GUncertain significance
Select item 587584	NM_001807.6(CEL):c.217+34C>T	CEL	Single nucleotide variant (intron variant)	Maturity-onset diabetes of the young type 8	GUncertain significance
Select item 1179684	NM_001807.6(CEL):c.217+35G>A	CEL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1809856	NM_001807.6(CEL):c.239T>C (p.Phe80Ser)	CEL (F80S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1334352	NM_001807.6(CEL):c.240C>A (p.Phe80Leu)	CEL (F80L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3141899	NM_001807.6(CEL):c.265A>G (p.Ile89Val)	CEL (I89V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582711	NM_001807.6(CEL):c.277A>C (p.Ser93Arg)	CEL (S93R)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 8	GUncertain significance
Select item 1301626	NM_001807.6(CEL):c.337C>T (p.Gln113Ter)	CEL (Q113*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2659664	NM_001807.6(CEL):c.340G>A (p.Val114Ile)	CEL (V114I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2665071	NM_001807.6(CEL):c.341-83C>T	CEL	Single nucleotide variant (intron variant)	Maturity-onset diabetes of the young type 8	GUncertain significance
Select item 1218097	NM_001807.6(CEL):c.341-48C>G	CEL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 931259	NM_001807.6(CEL):c.341-2A>G	CEL	Single nucleotide variant (splice acceptor variant)	Maturity-onset diabetes of the young type 8	GUncertain significance
Select item 434691	NM_001807.6(CEL):c.347G>A (p.Arg116Gln)	CEL (R116Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 128684	NM_001807.6(CEL):c.353T>G (p.Leu118Arg)	CEL (L118R)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 549532	NM_001807.6(CEL):c.358G>A (p.Val120Ile)	CEL (V120I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3237401	NM_001807.6(CEL):c.382G>A (p.Ala128Thr)	CEL (A128T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1344530	NM_001807.6(CEL):c.383C>T (p.Ala128Val)	CEL (A128V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3265704	NM_001807.6(CEL):c.395G>A (p.Gly132Glu)	CEL (G132E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1676816	NM_001807.6(CEL):c.400G>A (p.Gly134Ser)	CEL (G134S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 713280	NM_001807.6(CEL):c.402C>G (p.Gly134=)	CEL	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 8 +1 more	GBenign/Likely benign
Select item 1193242	NM_001807.6(CEL):c.417C>T (p.Phe139=)	CEL	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1235700	NM_001807.6(CEL):c.432G>A (p.Leu144=)	CEL	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 3050766	NM_001807.6(CEL):c.439G>A (p.Gly147Ser)	CEL (G147S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2525914	NM_001807.6(CEL):c.451G>A (p.Ala151Thr)	CEL (A151T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1201063	NM_001807.6(CEL):c.466_479del (p.Val156fs)	CEL (V156fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2244624	NM_001807.6(CEL):c.471C>G (p.Ile157Met)	CEL (I157M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1803910	NM_001807.6(CEL):c.472G>A (p.Val158Met)	CEL (V158M)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 8 +1 more	GUncertain significance
Select item 731698	NM_001807.6(CEL):c.495C>T (p.Val165=)	CEL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3141900	NM_001807.6(CEL):c.496G>A (p.Gly166Ser)	CEL (G166S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2439894	NM_001807.6(CEL):c.497del (p.Gly166fs)	CEL (G166fs)	Deletion (frameshift variant)	Maturity-onset diabetes of the young type 8	GUncertain significance
Select item 2921142	NM_001807.6(CEL):c.526G>A (p.Ala176Thr)	CEL (A176T)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 8	GUncertain significance
Select item 1205011	NM_001807.6(CEL):c.539-75T>C	CEL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219929	NM_001807.6(CEL):c.554G>A (p.Arg185Gln)	CEL (R185Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1201520	NM_001807.6(CEL):c.572T>A (p.Ile191Asn)	CEL (I191N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676818	NM_001807.6(CEL):c.615_618delinsAAA (p.Asn206fs)	CEL (N206fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 2506629	NM_001807.6(CEL):c.626C>T (p.Thr209Met)	CEL (T209M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1188153	NM_001807.6(CEL):c.670-4G>A	CEL	Single nucleotide variant (intron variant)	Maturity-onset diabetes of the young type 8 +1 more	GLikely benign
Select item 434689	NM_001807.6(CEL):c.687C>T (p.Asn229=)	CEL	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 828119	NM_001807.6(CEL):c.703C>T (p.Arg235Ter)	CEL (R235*)	Single nucleotide variant (nonsense)	Maturity-onset diabetes of the young type 8	GLikely pathogenic
Select item 549533	NM_001807.6(CEL):c.709A>G (p.Ile237Val)	CEL (I237V)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance
Select item 1677596	NM_001807.6(CEL):c.717G>T (p.Gln239His)	CEL (Q239H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809699	NM_001807.6(CEL):c.718A>G (p.Ser240Gly)	CEL (S240G)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 8	GUncertain significance
Select item 2443092	NM_001807.6(CEL):c.723C>T (p.Gly241=)	CEL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2299925	NM_001807.6(CEL):c.769G>C (p.Ala257Pro)	CEL (A257P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1328326	NM_001807.6(CEL):c.777+7G>A	CEL	Single nucleotide variant (intron variant)	Maturity-onset diabetes of the young type 8	GLikely benign
Select item 1200100	NM_001807.6(CEL):c.778-20G>T	CEL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2305541	NM_001807.6(CEL):c.781G>T (p.Ala261Ser)	CEL (A261S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1299164	NM_001807.6(CEL):c.813C>T (p.Ala271=)	CEL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3352004	NM_001807.6(CEL):c.850C>T (p.Arg284Ter)	CEL (R284*)	Single nucleotide variant (nonsense)	CEL-related disorder	GUncertain significance
Select item 917438	NM_001807.6(CEL):c.850C>G (p.Arg284Gly)	CEL (R284G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 393420	NM_001807.6(CEL):c.860C>T (p.Thr287Met)	CEL (T287M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3141901	NM_001807.6(CEL):c.874G>T (p.Val292Leu)	CEL (V292L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1308042	NM_001807.6(CEL):c.878C>T (p.Pro293Leu)	CEL (P293L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2310066	NM_001807.6(CEL):c.883G>T (p.Ala295Ser)	CEL (A295S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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