55215[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057806, LOC130057807 +1763 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057831, LOC130057832 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	ABHD2, ACAN +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	LOC130057938, LOC130057939 +611 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	LOC121530602, LOC121530603 +517 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC129390732, LOC129390733 +500 more	Copy number gain	See cases	GPathogenic
Select item 154660	GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3	LOC126862240, LOC126862241 +311 more	Copy number gain	See cases	GPathogenic
Select item 317254	NM_001113378.1(FANCI):c.-90T>C	FANCI	Single nucleotide variant	Fanconi anemia complementation group I	GUncertain significance
Select item 317255	NM_001113378.2(FANCI):c.-72C>G	FANCI	Single nucleotide variant (5 prime UTR variant)	Fanconi anemia complementation group I	GUncertain significance
Select item 887849	NM_001113378.2(FANCI):c.-56T>C	FANCI	Single nucleotide variant (5 prime UTR variant)	Fanconi anemia complementation group I	GUncertain significance
Select item 317256	NM_001113378.2(FANCI):c.-23G>A	FANCI	Single nucleotide variant (5 prime UTR variant)	Fanconi anemia complementation group I	GUncertain significance
Select item 1243727	NM_001113378.2(FANCI):c.-19-149A>G	FANCI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 417426	NC_000015.10:g.(?_89247629)_(89317131_?)del	FANCI, POLG +1 more	Deletion	Fanconi anemia	GPathogenic
Select item 887850	NM_001113378.2(FANCI):c.-10A>G	FANCI	Single nucleotide variant (5 prime UTR variant)	Fanconi anemia complementation group I	GUncertain significance
Select item 3053965	NM_001113378.2(FANCI):c.-2C>A	FANCI	Single nucleotide variant (5 prime UTR variant)	FANCI-related disorder	GLikely benign
Select item 1022962	NM_001113378.2(FANCI):c.1A>G (p.Met1Val)	FANCI (M1V)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia +1 more	GUncertain significance
Select item 1998470	NM_001113378.2(FANCI):c.2T>G (p.Met1Arg)	FANCI (M1R)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia	GUncertain significance
Select item 929712	NM_001113378.2(FANCI):c.2T>C (p.Met1Thr)	FANCI (M1T)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia complementation group I	GPathogenic
Select item 1404691	NM_001113378.2(FANCI):c.4G>T (p.Asp2Tyr)	FANCI (D2Y)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 1319325	NM_001113378.2(FANCI):c.5A>T (p.Asp2Val)	FANCI (D2V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1969461	NM_001113378.2(FANCI):c.8A>G (p.Gln3Arg)	FANCI (Q3R)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 2917627	NM_001113378.2(FANCI):c.9G>C (p.Gln3His)	FANCI (Q3H)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 1506003	NM_001113378.2(FANCI):c.12G>C (p.Lys4Asn)	FANCI (K4N)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 841021	NM_001113378.2(FANCI):c.13A>G (p.Ile5Val)	FANCI (I5V)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group I +1 more	GUncertain significance
Select item 1465747	NM_001113378.2(FANCI):c.16T>G (p.Leu6Val)	FANCI (L6V)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 317257	NM_001113378.2(FANCI):c.17T>C (p.Leu6Ser)	FANCI (L6S)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group I +1 more	GUncertain significance
Select item 1126102	NM_001113378.2(FANCI):c.18A>G (p.Leu6=)	FANCI	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 954548	NM_001113378.2(FANCI):c.22C>G (p.Leu8Val)	FANCI (L8V)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 2722679	NM_001113378.2(FANCI):c.24A>G (p.Leu8=)	FANCI	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 3092820	NM_001113378.2(FANCI):c.25G>T (p.Ala9Ser)	FANCI (A9S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1327061	NM_001113378.2(FANCI):c.25G>A (p.Ala9Thr)	FANCI (A9T)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group I	GUncertain significance
Select item 1944196	NM_001113378.2(FANCI):c.32A>G (p.Glu11Gly)	FANCI (E11G)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 238325	NM_001113378.2(FANCI):c.33A>G (p.Glu11=)	FANCI	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 1638226	NM_001113378.2(FANCI):c.39A>T (p.Thr13=)	FANCI	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 1040173	NM_001113378.2(FANCI):c.40G>A (p.Ala14Thr)	FANCI (A14T)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 1415533	NM_001113378.2(FANCI):c.45C>G (p.Asp15Glu)	FANCI (D15E)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 1420910	NM_001113378.2(FANCI):c.50T>G (p.Leu17Arg)	FANCI (L17R)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 2878476	NM_001113378.2(FANCI):c.51G>T (p.Leu17=)	FANCI	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 1984361	NM_001113378.2(FANCI):c.53A>G (p.Gln18Arg)	FANCI (Q18R)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 2160216	NM_001113378.2(FANCI):c.68C>G (p.Thr23Ser)	FANCI (T23S)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 3020216	NM_001113378.2(FANCI):c.69C>T (p.Thr23=)	FANCI	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 2016354	NM_001113378.2(FANCI):c.70C>T (p.Leu24=)	FANCI	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 3241606	NM_001113378.2(FANCI):c.76_77del (p.Glu26fs)	FANCI (E26fs)	Microsatellite (frameshift variant +1 more)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 408257	NM_001113378.2(FANCI):c.83A>G (p.Asp28Gly)	FANCI (D28G)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 2982327	NM_001113378.2(FANCI):c.84+2_84+3del	FANCI	Microsatellite (splice donor variant +1 more)	Fanconi anemia	GLikely pathogenic
Select item 1579588	NM_001113378.2(FANCI):c.84+6dup	FANCI	Duplication (intron variant)	Fanconi anemia	GLikely benign
Select item 1537998	NM_001113378.2(FANCI):c.84+7A>T	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2085011	NM_001113378.2(FANCI):c.84+13A>C	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 1346905	NM_001113378.2(FANCI):c.84+16C>T	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2863989	NM_001113378.2(FANCI):c.84+17A>G	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 1659133	NM_001113378.2(FANCI):c.84+19G>A	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 1216369	NM_001113378.2(FANCI):c.84+114G>A	FANCI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187898	NM_001113378.2(FANCI):c.84+131A>G	FANCI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209047	NM_001113378.2(FANCI):c.84+150A>G	FANCI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212971	NM_001113378.2(FANCI):c.84+235A>C	FANCI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179426	NM_001113378.2(FANCI):c.85-258G>C	FANCI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289279	NM_001113378.2(FANCI):c.85-214A>G	FANCI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290143	NM_001113378.2(FANCI):c.85-206A>G	FANCI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2843327	NM_001113378.2(FANCI):c.85-22_85-15del	FANCI	Deletion (intron variant)	Fanconi anemia	GLikely benign
Select item 3014745	NM_001113378.2(FANCI):c.85-19C>A	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2071710	NM_001113378.2(FANCI):c.85-19C>G	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2731065	NM_001113378.2(FANCI):c.85-8_85-5del	FANCI	Microsatellite (intron variant)	Fanconi anemia	GLikely benign
Select item 2709102	NM_001113378.2(FANCI):c.85-13T>C	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2737437	NM_001113378.2(FANCI):c.85-10T>C	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2836643	NM_001113378.2(FANCI):c.85-8_85-7del	FANCI	Deletion (intron variant)	Fanconi anemia	GLikely benign
Select item 2723408	NM_001113378.2(FANCI):c.85-8C>G	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2026652	NM_001113378.2(FANCI):c.85-2A>G	FANCI	Single nucleotide variant (splice acceptor variant)	Fanconi anemia	GLikely pathogenic
Select item 2997488	NM_001113378.2(FANCI):c.85-1G>T	FANCI	Single nucleotide variant (splice acceptor variant)	Fanconi anemia +1 more	GLikely pathogenic
Select item 2725983	NM_001113378.2(FANCI):c.85-1G>A	FANCI	Single nucleotide variant (splice acceptor variant)	Fanconi anemia	GLikely pathogenic
Select item 1001966	NM_001113378.2(FANCI):c.89C>T (p.Thr30Ile)	FANCI (T30I)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 1337943	NM_001113378.2(FANCI):c.91A>G (p.Asn31Asp)	FANCI (N31D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2176175	NM_001113378.2(FANCI):c.92A>T (p.Asn31Ile)	FANCI (N31I)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 570032	NM_001113378.2(FANCI):c.92A>G (p.Asn31Ser)	FANCI (N31S)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 2792401	NM_001113378.2(FANCI):c.93T>G (p.Asn31Lys)	FANCI (N31K)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 2114556	NM_001113378.2(FANCI):c.93T>C (p.Asn31=)	FANCI	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 435165	NM_001113378.2(FANCI):c.96_98del (p.Leu33del)	FANCI (L33del)	Deletion (inframe_deletion +1 more)	Fanconi anemia +2 more	GUncertain significance
Select item 1353106	NM_001113378.2(FANCI):c.100C>G (p.Gln34Glu)	FANCI (Q34E)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 2747833	NM_001113378.2(FANCI):c.103A>G (p.Asn35Asp)	FANCI (N35D)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 2163334	NM_001113378.2(FANCI):c.106C>A (p.Gln36Lys)	FANCI (Q36K)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 2098767	NM_001113378.2(FANCI):c.106C>G (p.Gln36Glu)	FANCI (Q36E)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 1622163	NM_001113378.2(FANCI):c.114G>A (p.Val38=)	FANCI	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 3277671	NM_001113378.2(FANCI):c.119G>A (p.Gly40Glu)	FANCI (G40E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2890688	NM_001113378.2(FANCI):c.123A>G (p.Lys41=)	FANCI	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 2886661	NM_001113378.2(FANCI):c.126T>C (p.Val42=)	FANCI	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 755573	NM_001113378.2(FANCI):c.150C>T (p.Ile50=)	FANCI	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2202193	NM_001113378.2(FANCI):c.153C>G (p.Phe51Leu)	FANCI (F51L)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 2754005	NM_001113378.2(FANCI):c.157+1G>A	FANCI	Single nucleotide variant (splice donor variant)	Fanconi anemia	GLikely pathogenic
Select item 3018481	NM_001113378.2(FANCI):c.157+2TAA[2]	FANCI	Microsatellite (splice donor variant)	Fanconi anemia	GLikely benign
Select item 526410	NM_001113378.2(FANCI):c.157+7A>G	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia complementation group I +1 more	GConflicting classifications of pathogenicity
Select item 2903074	NM_001113378.2(FANCI):c.157+14A>G	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3003115	NM_001113378.2(FANCI):c.157+16G>C	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2994902	NM_001113378.2(FANCI):c.157+19A>T	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 929713	NM_001113378.2(FANCI):c.157+78G>A	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia complementation group I	GPathogenic
Select item 1293863	NM_001113378.2(FANCI):c.158-213G>A	FANCI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278445	NM_001113378.2(FANCI):c.158-121G>A	FANCI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273092	NM_001113378.2(FANCI):c.158-42G>T	FANCI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2153094	NM_001113378.2(FANCI):c.158-20C>T	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2990207	NM_001113378.2(FANCI):c.158-19C>T	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign

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