ClinVar for Gene (Select 2177) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3092795	NM_001018115.3(FANCD2):c.3172A>G (p.Met1058Val)	FANCD2, FANCD2OS (M1021V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3092792	NM_001018115.3(FANCD2):c.1481A>G (p.Asp494Gly)	FANCD2, LOC107303338 (D494G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092791	NM_001018115.3(FANCD2):c.1014C>G (p.Ser338Arg)	FANCD2, LOC107303338 (S338R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3076009	NM_001018115.3(FANCD2):c.1278+1G>T	FANCD2, LOC107303338	Single nucleotide variant (splice donor variant)	Fanconi anemia	GLikely pathogenic
Select item 3067631	NM_001018115.3(FANCD2):c.3991T>C (p.Phe1331Leu)	FANCD2, FANCD2OS (F1294L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3065349	NM_001018115.3(FANCD2):c.3484T>G (p.Phe1162Val)	FANCD2OS, FANCD2 (F1125V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 3062673	GRCh37/hg19 3p26.1-25.3(chr3:6306331-11468530)x1	ARPC4, ARPC4-TTLL3 +40 more	Copy number loss	not specified	GPathogenic
Select item 3062665	GRCh37/hg19 3p25.3(chr3:10038458-10082917)x1	FANCD2	Copy number loss	not specified	GPathogenic
Select item 3062664	GRCh37/hg19 3p25.3(chr3:10036961-10082735)x1	FANCD2	Copy number loss	not specified	GPathogenic
Select item 3062663	GRCh37/hg19 3p25.3(chr3:10037166-10082917)x1	FANCD2	Copy number loss	not specified	GPathogenic
Select item 3059927	NM_001018115.3(FANCD2):c.1278+1del	FANCD2, LOC107303338	Deletion (splice donor variant)	FANCD2-related disorder	GBenign
Select item 3056224	NM_001018115.3(FANCD2):c.1948-19G>T	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	FANCD2-related disorder	GLikely benign
Select item 3055184	NM_001018115.3(FANCD2):c.*10A>T	FANCD2, FANCD2OS	Single nucleotide variant (3 prime UTR variant +1 more)	FANCD2-related disorder	GLikely benign
Select item 3053522	NM_001018115.3(FANCD2):c.3683+6G>T	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	FANCD2OS-related disorder	GLikely benign
Select item 3052034	NM_001018115.3(FANCD2):c.1872T>C (p.Ser624=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	FANCD2-related disorder	GLikely benign
Select item 3043772	NM_001018115.3(FANCD2):c.2997T>C (p.Ile999=)	FANCD2	Single nucleotide variant (synonymous variant)	FANCD2-related disorder	GLikely benign
Select item 3036320	NM_001018115.3(FANCD2):c.2988C>T (p.Ser996=)	FANCD2	Single nucleotide variant (synonymous variant)	FANCD2-related disorder	GLikely benign
Select item 3030442	NM_001018115.3(FANCD2):c.1965C>T (p.Thr655=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	FANCD2-related disorder	GLikely benign
Select item 3027066	NM_001018115.3(FANCD2):c.3753T>C (p.Pro1251=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3024017	NM_001018115.3(FANCD2):c.2695C>T (p.His899Tyr)	FANCD2, LOC107303338 (H899Y +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 3023611	NM_001018115.3(FANCD2):c.1867C>T (p.Gln623Ter)	FANCD2, LOC107303338 (Q586* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia	GPathogenic
Select item 3023388	NM_001018115.3(FANCD2):c.3342C>T (p.Ser1114=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 3022763	NM_001018115.3(FANCD2):c.481T>C (p.Phe161Leu)	FANCD2, LOC107303338 (F161L)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 3021884	NM_001018115.3(FANCD2):c.888+10T>C	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3021029	NM_001018115.3(FANCD2):c.696-7T>C	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3020160	NM_001018115.3(FANCD2):c.3034dup (p.Ile1012fs)	FANCD2 (I1012fs +1 more)	Duplication (frameshift variant)	Fanconi anemia	GPathogenic
Select item 3019858	NM_001018115.3(FANCD2):c.4281+96T>C	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 3019813	NM_001018115.3(FANCD2):c.4011G>A (p.Leu1337=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 3019808	NM_001018115.3(FANCD2):c.3012C>T (p.Leu1004=)	FANCD2	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3019492	NM_001018115.3(FANCD2):c.1947+6G>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia	GUncertain significance
Select item 3019191	NM_001018115.3(FANCD2):c.2860-5G>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3018837	NM_001018115.3(FANCD2):c.1691_1692del (p.Leu563_Ser564insTer)	LOC107303338, FANCD2	Microsatellite (nonsense)	Fanconi anemia	GPathogenic
Select item 3017779	NM_001018115.3(FANCD2):c.1692T>C (p.Ser564=)	LOC107303338, FANCD2	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3017505	NM_001018115.3(FANCD2):c.2622A>G (p.Thr874=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3017353	NM_001018115.3(FANCD2):c.2499C>T (p.Thr833=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3016047	NM_001018115.3(FANCD2):c.855T>C (p.Ile285=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3015859	NM_001018115.3(FANCD2):c.3460A>G (p.Lys1154Glu)	FANCD2, FANCD2OS (K1154E +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 3014862	NM_001018115.3(FANCD2):c.19C>T (p.Leu7=)	FANCD2	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3014724	NM_001018115.3(FANCD2):c.4194G>A (p.Glu1398=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 3014098	NM_001018115.3(FANCD2):c.687A>G (p.Lys229=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3014096	NM_001018115.3(FANCD2):c.438+9G>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3013309	NM_001018115.3(FANCD2):c.3225-9C>T	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3011638	NM_001018115.3(FANCD2):c.3106-15C>T	FANCD2, FANCD2OS	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 3010434	NM_001018115.3(FANCD2):c.348T>C (p.Ser116=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3009922	NM_001018115.3(FANCD2):c.666C>T (p.Ser222=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3009629	NM_001018115.3(FANCD2):c.3831C>T (p.Ile1277=)	FANCD2OS, FANCD2	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 3009626	NM_001018115.3(FANCD2):c.510C>T (p.Ile170=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3006197	NM_001018115.3(FANCD2):c.180A>G (p.Lys60=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3005199	NM_001018115.3(FANCD2):c.2116C>T (p.Gln706Ter)	FANCD2, LOC107303338 (Q669* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia	GPathogenic
Select item 3005169	NM_001018115.3(FANCD2):c.274-9C>T	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3002791	NM_001018115.3(FANCD2):c.3849+1G>A	FANCD2, FANCD2OS	Single nucleotide variant (splice donor variant +1 more)	Fanconi anemia	GLikely pathogenic
Select item 3002540	NM_001018115.3(FANCD2):c.783+16C>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3001894	NM_001018115.3(FANCD2):c.3039T>A (p.Val1013=)	FANCD2	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2999712	NM_001018115.3(FANCD2):c.3963+15C>T	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2998659	NM_001018115.3(FANCD2):c.1947+1G>A	FANCD2, LOC107303338	Single nucleotide variant (splice donor variant)	Fanconi anemia	GLikely pathogenic
Select item 2998377	NM_001018115.3(FANCD2):c.888+16C>T	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2997531	NM_001018115.3(FANCD2):c.2715+17T>G	LOC107303338, FANCD2	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2996589	NM_001018115.3(FANCD2):c.2977-17C>T	FANCD2	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2996454	NM_001018115.3(FANCD2):c.3467-12_3467-10del	FANCD2, FANCD2OS	Microsatellite (intron variant)	Fanconi anemia	GLikely benign
Select item 2992229	NM_001018115.3(FANCD2):c.1128A>G (p.Glu376=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2992224	NM_001018115.3(FANCD2):c.2837del (p.Ile945_Leu946insTer)	FANCD2, LOC107303338	Deletion (nonsense)	Fanconi anemia	GPathogenic
Select item 2991926	NM_001018115.3(FANCD2):c.2859+11G>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2991914	NM_001018115.3(FANCD2):c.846A>C (p.Ile282=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2991526	NM_001018115.3(FANCD2):c.2097C>A (p.Leu699=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2987345	NM_001018115.3(FANCD2):c.1098+20_1098+23del	FANCD2, LOC107303338	Deletion (intron variant)	Fanconi anemia	GLikely benign
Select item 2987312	NM_001018115.3(FANCD2):c.551A>C (p.Asp184Ala)	LOC107303338, FANCD2 (D184A)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2987213	NM_001018115.3(FANCD2):c.2544A>G (p.Leu848=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2986026	NM_001018115.3(FANCD2):c.1766+7G>T	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2984188	NM_001018115.3(FANCD2):c.2511C>G (p.Val837=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2984167	NM_001018115.3(FANCD2):c.2488T>G (p.Leu830Val)	FANCD2, LOC107303338 (L793V +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2983969	NM_001018115.3(FANCD2):c.3889-1G>A	FANCD2, FANCD2OS	Single nucleotide variant (splice acceptor variant +1 more)	Fanconi anemia	GLikely pathogenic
Select item 2983569	NM_001018115.3(FANCD2):c.3225-4T>G	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2982652	NM_001018115.3(FANCD2):c.2967C>T (p.Pro989=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2982217	NM_001018115.3(FANCD2):c.98dup (p.Lys34fs)	FANCD2, LOC107303338 (K34fs)	Duplication (frameshift variant)	Fanconi anemia	GPathogenic
Select item 2982057	NM_001018115.3(FANCD2):c.38_39del (p.Lys13fs)	FANCD2 (K13fs)	Deletion (frameshift variant)	Fanconi anemia	GPathogenic
Select item 2979917	NM_001018115.3(FANCD2):c.2859+19T>C	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2979470	NM_001018115.3(FANCD2):c.2697T>C (p.His899=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2978146	NM_001018115.3(FANCD2):c.1116del (p.Ser373fs)	FANCD2, LOC107303338 (S373fs)	Deletion (frameshift variant)	Fanconi anemia	GPathogenic
Select item 2977304	NM_001018115.3(FANCD2):c.3684-10C>T	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2976311	NM_001018115.3(FANCD2):c.2451G>A (p.Lys817=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2975205	NM_001018115.3(FANCD2):c.294T>C (p.Ser98=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2974545	NM_001018115.3(FANCD2):c.3891T>C (p.Tyr1297=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 2974005	NM_001018115.3(FANCD2):c.205+16A>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2973505	NM_001018115.3(FANCD2):c.2144dup (p.Thr716fs)	FANCD2, LOC107303338 (T716fs +1 more)	Duplication (frameshift variant)	Fanconi anemia	GPathogenic
Select item 2972410	NM_001018115.3(FANCD2):c.274-9C>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2971383	NM_001018115.3(FANCD2):c.2135G>A (p.Gly712Glu)	FANCD2, LOC107303338 (G675E +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2970103	NM_001018115.3(FANCD2):c.186A>G (p.Gly62=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2968925	NM_001018115.3(FANCD2):c.4038+10_4038+11dup	FANCD2, FANCD2OS	Duplication (intron variant)	Fanconi anemia	GLikely benign
Select item 2966767	NM_001018115.3(FANCD2):c.64+7A>G	FANCD2	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2964225	NM_001018115.3(FANCD2):c.3279C>A (p.Val1093=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 2963267	NM_001018115.3(FANCD2):c.1656+7G>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2962997	NM_001018115.3(FANCD2):c.3807C>T (p.Asn1269=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 2962868	NM_001018115.3(FANCD2):c.777A>C (p.Leu259=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2962611	NM_001018115.3(FANCD2):c.60C>T (p.Ala20=)	FANCD2	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2961184	NM_001018115.3(FANCD2):c.2943A>T (p.Thr981=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2960796	NM_001018115.3(FANCD2):c.1572_1573del (p.Ser525fs)	FANCD2, LOC107303338 (S525fs)	Microsatellite (frameshift variant +1 more)	Fanconi anemia	GPathogenic
Select item 2958256	NM_001018115.3(FANCD2):c.2973C>G (p.Leu991=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2957812	NM_001018115.3(FANCD2):c.3618T>C (p.Val1206=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 2956984	NM_001018115.3(FANCD2):c.3291A>C (p.Arg1097=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign

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