3763[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	LOC126861730, LOC126861731 +489 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	LOC130009490, LOC130009491 +416 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC132090185, LOC132090186 +621 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 145957	GRCh38/hg38 13q12.13-12.3(chr13:26965244-30097858)x3	CDX2, FLT1 +123 more	Copy number gain	See cases	GLikely pathogenic
Select item 3095725	NM_002019.4(FLT1):c.3984C>A (p.Asn1328Lys)	FLT1 (N1328K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713356	NM_002019.4(FLT1):c.3969G>A (p.Pro1323=)	FLT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3279253	NM_002019.4(FLT1):c.3956C>T (p.Ala1319Val)	FLT1 (A1319V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605373	NM_002019.4(FLT1):c.3926A>G (p.Tyr1309Cys)	FLT1 (Y1309C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2431079	NM_002019.4(FLT1):c.3815+159A>G	FLT1	Single nucleotide variant (intron variant)	Squamous cell carcinoma	GBenign
Select item 3095724	NM_002019.4(FLT1):c.3805C>T (p.Leu1269Phe)	FLT1 (L1269F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095723	NM_002019.4(FLT1):c.3800C>G (p.Ala1267Gly)	FLT1 (A1267G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095722	NM_002019.4(FLT1):c.3770G>A (p.Arg1257His)	FLT1 (R1257H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2431129	NM_002019.4(FLT1):c.3721-78C>A	FLT1	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 713553	NM_002019.4(FLT1):c.3602C>T (p.Pro1201Leu)	FLT1 (P1201L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2240195	NM_002019.4(FLT1):c.3599C>T (p.Ala1200Val)	FLT1 (A1200V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317629	NM_002019.4(FLT1):c.3563C>A (p.Ala1188Asp)	FLT1 (A1188D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716378	NM_002019.4(FLT1):c.3558T>C (p.Thr1186=)	FLT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 775340	NM_002019.4(FLT1):c.3552C>T (p.Tyr1184=)	FLT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3095721	NM_002019.4(FLT1):c.3493G>A (p.Asp1165Asn)	FLT1 (D1165N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095720	NM_002019.4(FLT1):c.3471G>C (p.Leu1157Phe)	FLT1 (L1157F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 183436	NM_002019.4(FLT1):c.3329G>C (p.Cys1110Ser)	FLT1 (C1110S)	Single nucleotide variant (missense variant)	Carcinoma of colon	Gnot provided
Select item 3095719	NM_002019.4(FLT1):c.3307G>C (p.Val1103Leu)	FLT1 (V1103L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095718	NM_002019.4(FLT1):c.3289G>A (p.Gly1097Arg)	FLT1 (G1097R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095717	NM_002019.4(FLT1):c.3287G>A (p.Gly1096Asp)	FLT1 (G1096D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 162071	NM_002019.4(FLT1):c.3287-16A>C	FLT1	Single nucleotide variant (intron variant)	Carcinoma of colon	Gnot provided
Select item 3279255	NM_002019.4(FLT1):c.3220A>C (p.Lys1074Gln)	FLT1 (K1074Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 162072	NM_002019.4(FLT1):c.3204T>C (p.Pro1068=)	FLT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3095716	NM_002019.4(FLT1):c.3197T>C (p.Met1066Thr)	FLT1 (M1066T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731445	NM_002019.4(FLT1):c.3175-10C>T	FLT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 162073	NM_002019.4(FLT1):c.3175-69A>T	FLT1	Single nucleotide variant (intron variant)	Carcinoma of colon	Gnot provided
Select item 2431119	NM_002019.4(FLT1):c.3174+225T>G	FLT1, LOC124849303	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2229481	NM_002019.4(FLT1):c.3096G>C (p.Glu1032Asp)	FLT1 (E1032D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554668	NM_002019.4(FLT1):c.3055A>G (p.Ile1019Val)	FLT1 (I1019V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 756286	NM_002019.4(FLT1):c.3054C>T (p.Cys1018=)	FLT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 162074	NM_002019.4(FLT1):c.3042_3043insA (p.Ser1015fs)	FLT1, LOC126861720 (S1015fs)	Insertion (frameshift variant)	Carcinoma of colon	Gnot provided
Select item 2243262	NM_002019.4(FLT1):c.2962G>A (p.Gly988Ser)	FLT1, LOC126861720 (G988S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 162078	NM_002019.4(FLT1):c.2901G>A (p.Ala967=)	FLT1, LOC126861720	Single nucleotide variant (synonymous variant)	Carcinoma of colon	Gnot provided
Select item 162079	NM_002019.4(FLT1):c.2871A>T (p.Leu957=)	FLT1, LOC126861720	Single nucleotide variant (synonymous variant)	Carcinoma of colon	Gnot provided
Select item 2488843	NM_002019.4(FLT1):c.2834T>C (p.Met945Thr)	FLT1, LOC126861720 (M945T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778082	NM_002019.4(FLT1):c.2812A>G (p.Met938Val)	FLT1, LOC126861720 (M938V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 162075	NM_002019.4(FLT1):c.2708-29A>C	FLT1	Single nucleotide variant (intron variant)	Carcinoma of colon	Gnot provided
Select item 162076	NM_002019.4(FLT1):c.2708-39G>C	FLT1	Single nucleotide variant (intron variant)	Carcinoma of colon	Gnot provided
Select item 2431077	NM_002019.4(FLT1):c.2708-190C>T	FLT1	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431075	NM_002019.4(FLT1):c.2708-195G>T	FLT1	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2369803	NM_002019.4(FLT1):c.2659C>A (p.His887Asn)	FLT1 (H887N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 162077	NM_002019.4(FLT1):c.2654_2655insA (p.Gly886fs)	FLT1 (G886fs)	Insertion (frameshift variant)	Carcinoma of colon	Gnot provided
Select item 2305257	NM_002019.4(FLT1):c.2596G>A (p.Gly866Arg)	FLT1 (G866R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2431180	NM_002019.4(FLT1):c.2594-52G>A	FLT1	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 204359	NM_002019.4(FLT1):c.2439_2466del (p.Tyr815fs)	FLT1 (Y815fs)	Deletion (frameshift variant)	Carcinoma of colon	GUncertain significance
Select item 3095715	NM_002019.4(FLT1):c.2437C>A (p.Leu813Ile)	FLT1 (L813I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709270	NM_002019.4(FLT1):c.2382C>T (p.Tyr794=)	FLT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3095714	NM_002019.4(FLT1):c.2152A>T (p.Ile718Phe)	FLT1 (I718F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643707	NM_002019.4(FLT1):c.2117-10929ATC[4]	FLT1 (S733del)	Microsatellite (inframe_deletion +1 more)	not provided	GBenign
Select item 2519959	NM_002019.4(FLT1):c.2065G>A (p.Glu689Lys)	FLT1 (E689K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261537	NM_002019.4(FLT1):c.2062C>G (p.Pro688Ala)	FLT1 (P688A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768608	NM_002019.4(FLT1):c.2061C>T (p.Val687=)	FLT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2335441	NM_002019.4(FLT1):c.2054A>G (p.Asn685Ser)	FLT1 (N685S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611739	NM_002019.4(FLT1):c.1960A>T (p.Thr654Ser)	FLT1 (T654S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095713	NM_002019.4(FLT1):c.1916G>C (p.Arg639Thr)	FLT1 (R639T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301929	NM_002019.4(FLT1):c.1871T>C (p.Met624Thr)	FLT1 (M624T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515731	NM_002019.4(FLT1):c.1800G>T (p.Met600Ile)	FLT1 (M600I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596209	NM_002019.4(FLT1):c.1781C>T (p.Thr594Ile)	FLT1 (T594I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 749128	NM_002019.4(FLT1):c.1701G>A (p.Pro567=)	FLT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2363994	NM_002019.4(FLT1):c.1693A>G (p.Lys565Glu)	FLT1 (K565E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713357	NM_002019.4(FLT1):c.1644A>G (p.Ile548Met)	FLT1 (I548M)	Single nucleotide variant (missense variant)	FLT1-related disorder +1 more	GLikely benign
Select item 2255424	NM_002019.4(FLT1):c.1582A>G (p.Arg528Gly)	FLT1 (R528G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095712	NM_002019.4(FLT1):c.1516A>G (p.Thr506Ala)	FLT1 (T506A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279256	NM_002019.4(FLT1):c.1505T>C (p.Ile502Thr)	FLT1 (I502T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095711	NM_002019.4(FLT1):c.1502G>A (p.Arg501Lys)	FLT1 (R501K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604283	NM_002019.4(FLT1):c.1484A>G (p.Asp495Gly)	FLT1 (D495G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710183	NM_002019.4(FLT1):c.1474C>T (p.Leu492=)	FLT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 774826	NM_002019.4(FLT1):c.1302C>T (p.Ala434=)	FLT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2327439	NM_002019.4(FLT1):c.1300G>A (p.Ala434Thr)	FLT1 (A434T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 765119	NM_002019.4(FLT1):c.1284C>A (p.Pro428=)	FLT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2529871	NM_002019.4(FLT1):c.1261A>T (p.Thr421Ser)	FLT1 (T421S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614465	NM_002019.4(FLT1):c.1214T>C (p.Ile405Thr)	FLT1 (I405T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472877	NM_002019.4(FLT1):c.1141G>C (p.Ala381Pro)	FLT1 (A381P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2431114	NM_002019.4(FLT1):c.1106+219G>T	FLT1	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 730494	NM_002019.4(FLT1):c.1095G>A (p.Pro365=)	FLT1, LOC130009458	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3279254	NM_002019.4(FLT1):c.1034A>G (p.Glu345Gly)	FLT1, LOC130009458 (E345G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229518	NM_002019.4(FLT1):c.1022A>G (p.Gln341Arg)	FLT1, LOC130009458 (Q341R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466956	NM_002019.4(FLT1):c.871A>G (p.Ile291Val)	FLT1 (I291V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2549216	NM_002019.4(FLT1):c.863A>T (p.His288Leu)	FLT1 (H288L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385100	NM_002019.4(FLT1):c.855C>G (p.Ser285Arg)	FLT1 (S285R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3095728	NM_002019.4(FLT1):c.839G>A (p.Arg280Gln)	FLT1 (R280Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 720169	NM_002019.4(FLT1):c.780G>A (p.Thr260=)	FLT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2298828	NM_002019.4(FLT1):c.742C>T (p.Leu248Phe)	FLT1 (L248F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095727	NM_002019.4(FLT1):c.665C>T (p.Thr222Ile)	FLT1 (T222I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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