Related gene-specific medical variations for Gene (Select 112486223) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 131

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3019223	NM_000135.4(FANCA):c.42C>T (p.Asp14=)	FANCA, LOC112486223	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2995644	NM_000135.4(FANCA):c.79+15C>T	FANCA, LOC112486223	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2982070	NM_000135.4(FANCA):c.44C>T (p.Pro15Leu)	FANCA, LOC112486223 (P15L)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2893667	NM_000135.4(FANCA):c.79+14G>A	FANCA, LOC112486223	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2872784	NM_000135.4(FANCA):c.18C>A (p.Val6=)	FANCA, LOC112486223	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2847106	NM_000135.4(FANCA):c.79+13G>C	FANCA, LOC112486223	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2836013	NM_000135.4(FANCA):c.24C>A (p.Asn8Lys)	FANCA, LOC112486223 (N8K)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2827763	NM_000135.4(FANCA):c.79+20C>T	FANCA, LOC112486223	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2819073	NM_000135.4(FANCA):c.79+21_79+43del	FANCA, LOC112486223	Deletion (intron variant)	Fanconi anemia	GLikely benign
Select item 2769537	NM_000135.4(FANCA):c.45A>G (p.Pro15=)	FANCA, LOC112486223	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2768695	NM_000135.4(FANCA):c.35_36insA (p.Gln13fs)	FANCA, LOC112486223 (Q13fs)	Insertion (frameshift variant)	Fanconi anemia	GPathogenic
Select item 2764289	NM_000135.4(FANCA):c.16G>T (p.Val6Phe)	FANCA, LOC112486223 (V6F)	Single nucleotide variant (missense variant)	Fanconi anemia	GLikely benign
Select item 2753756	NM_000135.4(FANCA):c.79+16A>T	FANCA, LOC112486223	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2729377	NM_000135.4(FANCA):c.79+6T>C	FANCA, LOC112486223	Single nucleotide variant (intron variant)	Fanconi anemia	GUncertain significance
Select item 2727173	NM_000135.4(FANCA):c.63C>G (p.Ala21=)	FANCA, LOC112486223	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2725849	NM_000135.4(FANCA):c.50G>A (p.Gly17Asp)	FANCA, LOC112486223 (G17D)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2694727	NM_000135.4(FANCA):c.9C>T (p.Asp3=)	FANCA, LOC112486223	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2681909	NM_000135.4(FANCA):c.50G>T (p.Gly17Val)	FANCA, LOC112486223 (G17V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2681900	NM_000135.4(FANCA):c.-2C>G	FANCA, LOC112486223	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2675449	NM_000135.4(FANCA):c.16dup (p.Val6fs)	FANCA, LOC112486223 (V6fs)	Duplication (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675432	NM_000135.4(FANCA):c.32del (p.Ser11fs)	FANCA, LOC112486223 (S11fs)	Deletion (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675415	NM_000135.4(FANCA):c.15G>A (p.Trp5Ter)	FANCA, LOC112486223 (W5*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GPathogenic
Select item 2647141	NM_000135.4(FANCA):c.79+58C>T	FANCA, LOC112486223	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2486927	NM_000135.4(FANCA):c.73C>A (p.Leu25Met)	FANCA, LOC112486223 (L25M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2436163	NM_000135.4(FANCA):c.50dup (p.Arg18fs)	FANCA, LOC112486223 (R18fs)	Duplication (frameshift variant)	Fanconi anemia complementation group A	GPathogenic
Select item 2183365	NM_000135.4(FANCA):c.79+19C>T	FANCA, LOC112486223	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2183318	NM_000135.4(FANCA):c.49G>T (p.Gly17Cys)	FANCA, LOC112486223 (G17C)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2167229	NM_000135.4(FANCA):c.11C>T (p.Ser4Leu)	FANCA, LOC112486223 (S4L)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2163848	NM_000135.4(FANCA):c.24_25delinsGG (p.Asn8_Ser9delinsLysAla)	LOC112486223, FANCA	Indel (missense variant)	Fanconi anemia	GUncertain significance
Select item 2160541	NM_000135.4(FANCA):c.19C>A (p.Pro7Thr)	FANCA, LOC112486223 (P7T)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2157987	NM_000135.4(FANCA):c.46G>A (p.Gly16Arg)	FANCA, LOC112486223 (G16R)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2152268	NM_000135.4(FANCA):c.1del (p.Met1fs)	FANCA, LOC112486223 (M1fs)	Deletion (frameshift variant +1 more)	Fanconi anemia	GPathogenic
Select item 2147458	NM_000135.4(FANCA):c.79+15C>G	LOC112486223, FANCA	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2057072	NM_000135.4(FANCA):c.68C>A (p.Ala23Asp)	FANCA, LOC112486223 (A23D)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2037905	NM_000135.4(FANCA):c.72G>A (p.Glu24=)	FANCA, LOC112486223	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2023149	NM_000135.4(FANCA):c.27C>A (p.Ser9=)	FANCA, LOC112486223	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1990143	NM_000135.4(FANCA):c.60G>C (p.Arg20Ser)	FANCA, LOC112486223 (R20S)	Single nucleotide variant (missense variant)	Fanconi anemia	GLikely benign
Select item 1937961	NM_000135.4(FANCA):c.57G>A (p.Arg19=)	FANCA, LOC112486223	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1910833	NM_000135.4(FANCA):c.53G>A (p.Arg18His)	FANCA, LOC112486223 (R18H)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1809556	NM_000135.4(FANCA):c.-10C>T	FANCA, LOC112486223	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1761140	NM_000135.4(FANCA):c.79+5G>A	FANCA, LOC112486223	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1692230	NM_000135.4(FANCA):c.5C>G (p.Ser2Cys)	FANCA, LOC112486223 (S2C)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1691535	NM_000135.4(FANCA):c.25_26delinsCT (p.Ser9Leu)	FANCA, LOC112486223 (S9L)	Indel (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1674332	NM_000135.4(FANCA):c.79+18G>C	FANCA, LOC112486223	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 1649213	NM_000135.4(FANCA):c.18C>T (p.Val6=)	FANCA, LOC112486223	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1621751	NM_000135.4(FANCA):c.79+17G>T	FANCA, LOC112486223	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 1620998	NM_000135.4(FANCA):c.63C>T (p.Ala21=)	FANCA, LOC112486223	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1619960	NM_000135.4(FANCA):c.21G>C (p.Pro7=)	LOC112486223, FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1591475	NM_000135.4(FANCA):c.6C>A (p.Ser2=)	FANCA, LOC112486223	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1561095	NM_000135.4(FANCA):c.76C>T (p.Leu26=)	FANCA, LOC112486223	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1544088	NM_000135.4(FANCA):c.79+9G>A	FANCA, LOC112486223	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 1517522	NM_000135.4(FANCA):c.26C>G (p.Ser9Cys)	FANCA, LOC112486223 (S9C)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1467407	NM_000135.4(FANCA):c.78G>A (p.Leu26=)	LOC112486223, FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1438401	NM_000135.4(FANCA):c.42C>G (p.Asp14Glu)	FANCA, LOC112486223 (D14E)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1426053	NM_000135.4(FANCA):c.50G>C (p.Gly17Ala)	FANCA, LOC112486223 (G17A)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1422864	NM_000135.4(FANCA):c.8A>C (p.Asp3Ala)	FANCA, LOC112486223 (D3A)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1416736	NM_000135.4(FANCA):c.17T>G (p.Val6Gly)	FANCA, LOC112486223 (V6G)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1403228	NM_000135.4(FANCA):c.4T>G (p.Ser2Ala)	FANCA, LOC112486223 (S2A)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1398930	NM_000135.4(FANCA):c.8_28dup (p.Asp3_Ser9dup)	FANCA, LOC112486223	Duplication (inframe_insertion)	Fanconi anemia	GUncertain significance
Select item 1375372	NM_000135.4(FANCA):c.65G>C (p.Trp22Ser)	FANCA, LOC112486223 (W22S)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1371533	NM_000135.4(FANCA):c.20C>G (p.Pro7Arg)	FANCA, LOC112486223 (P7R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1361584	NM_000135.4(FANCA):c.26C>A (p.Ser9Tyr)	FANCA, LOC112486223 (S9Y)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1319514	NM_000135.4(FANCA):c.4T>A (p.Ser2Thr)	FANCA, LOC112486223 (S2T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312223	NM_000135.4(FANCA):c.-1C>T	FANCA, LOC112486223	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1184715	NM_000135.4(FANCA):c.37C>G (p.Gln13Glu)	FANCA, LOC112486223 (Q13E)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1159801	NM_000135.4(FANCA):c.21G>A (p.Pro7=)	FANCA, LOC112486223	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1148831	NM_000135.4(FANCA):c.69C>T (p.Ala23=)	LOC112486223, FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1132742	NM_000135.4(FANCA):c.33G>C (p.Ser11=)	FANCA, LOC112486223	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1132505	NM_000135.4(FANCA):c.36C>G (p.Gly12=)	FANCA, LOC112486223	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1128138	NM_000135.4(FANCA):c.6C>T (p.Ser2=)	FANCA, LOC112486223	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1118660	NM_000135.4(FANCA):c.27C>T (p.Ser9=)	FANCA, LOC112486223	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1117482	NM_000135.4(FANCA):c.48G>A (p.Gly16=)	FANCA, LOC112486223	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1114657	NM_000135.4(FANCA):c.57G>C (p.Arg19=)	FANCA, LOC112486223	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 1110142	NM_000135.4(FANCA):c.54C>T (p.Arg18=)	FANCA, LOC112486223	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1102981	NM_000135.4(FANCA):c.12G>A (p.Ser4=)	FANCA, LOC112486223	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1096248	NM_000135.4(FANCA):c.24C>T (p.Asn8=)	FANCA, LOC112486223	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1071078	NM_000135.4(FANCA):c.-1_2del (p.Met1del)	FANCA, LOC112486223 (M1del)	Deletion (inframe_deletion +1 more)	Fanconi anemia	GPathogenic
Select item 1063004	NM_000135.4(FANCA):c.15G>C (p.Trp5Cys)	FANCA, LOC112486223 (W5C)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1053832	NM_000135.4(FANCA):c.19C>G (p.Pro7Ala)	FANCA, LOC112486223 (P7A)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1049198	NM_000135.4(FANCA):c.20C>A (p.Pro7Gln)	FANCA, LOC112486223 (P7Q)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +1 more	GUncertain significance
Select item 1044734	NM_000135.4(FANCA):c.7G>C (p.Asp3His)	FANCA, LOC112486223 (D3H)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1040126	NM_000135.4(FANCA):c.79+10C>T	FANCA, LOC112486223	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1027038	NM_000135.4(FANCA):c.68C>T (p.Ala23Val)	FANCA, LOC112486223 (A23V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +2 more	GConflicting classifications of pathogenicity
Select item 1023296	NM_000135.4(FANCA):c.38A>G (p.Gln13Arg)	FANCA, LOC112486223 (Q13R)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1017098	NM_000135.4(FANCA):c.79+4G>A	FANCA, LOC112486223	Single nucleotide variant (intron variant)	Fanconi anemia	GUncertain significance
Select item 1007548	NM_000135.4(FANCA):c.19C>T (p.Pro7Ser)	LOC112486223, FANCA (P7S)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 1003089	NM_000135.4(FANCA):c.55C>T (p.Arg19Trp)	FANCA, LOC112486223 (R19W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 990021	NM_000135.4(FANCA):c.76C>G (p.Leu26Val)	FANCA, LOC112486223 (L26V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A	GUncertain significance
Select item 974278	NM_000135.4(FANCA):c.66G>A (p.Trp22Ter)	FANCA, LOC112486223 (W22*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GPathogenic
Select item 974277	NM_000135.4(FANCA):c.50del (p.Gly17fs)	FANCA, LOC112486223 (G17fs)	Deletion (frameshift variant)	Fanconi anemia complementation group A +1 more	GPathogenic
Select item 974276	NM_000135.4(FANCA):c.44_69del (p.Pro15fs)	FANCA, LOC112486223 (P15fs)	Deletion (frameshift variant)	Fanconi anemia	GPathogenic
Select item 974185	NM_000135.4(FANCA):c.14G>A (p.Trp5Ter)	FANCA, LOC112486223 (W5*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GPathogenic
Select item 971458	NM_000135.4(FANCA):c.26C>T (p.Ser9Phe)	FANCA, LOC112486223 (S9F)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 970763	NM_000135.4(FANCA):c.39G>C (p.Gln13His)	FANCA, LOC112486223 (Q13H)	Single nucleotide variant (missense variant)	Fanconi anemia	GLikely benign
Select item 967432	NM_000135.4(FANCA):c.47G>A (p.Gly16Glu)	FANCA, LOC112486223 (G16E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 961201	NM_000135.4(FANCA):c.70G>T (p.Glu24Ter)	FANCA, LOC112486223 (E24*)	Single nucleotide variant (nonsense)	Fanconi anemia	GPathogenic
Select item 934462	NM_000135.4(FANCA):c.2T>G (p.Met1Arg)	FANCA, LOC112486223 (M1R)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GPathogenic
Select item 934306	NM_000135.4(FANCA):c.23A>T (p.Asn8Ile)	FANCA, LOC112486223 (N8I)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 884599	NM_000135.4(FANCA):c.18C>G (p.Val6=)	FANCA, LOC112486223	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group A	GUncertain significance
Select item 856825	NM_000135.4(FANCA):c.68C>G (p.Ala23Gly)	LOC112486223, FANCA (A23G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 2