ClinVar for MedGen (Select 87542) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068714	NM_032043.3(BRIP1):c.3349del (p.Ser1117fs)	BRIP1 (S1117fs)	Deletion (frameshift variant)	Familial cancer of breast	GPathogenic
Select item 3068500	NM_000603.5(NOS3):c.1250_1259del (p.Ile417fs)	LOC126860224, NOS3 (I417fs)	Deletion (frameshift variant)	Familial cancer of breast	GUncertain significance
Select item 3061962	NM_000051.4(ATM):c.147_148insG (p.Lys50fs)	ATM (K50fs)	Insertion (frameshift variant)	Familial cancer of breast	GLikely pathogenic
Select item 3028907	NM_000051.4(ATM):c.4389del (p.Phe1463fs)	ATM (F1463fs)	Deletion (frameshift variant)	Familial cancer of breast	GPathogenic FDA Recognized database
Select item 3028906	NM_000051.4(ATM):c.480_484del (p.Gln161fs)	ATM (Q161fs)	Deletion (frameshift variant)	Familial cancer of breast	GPathogenic FDA Recognized database
Select item 3024290	NM_003620.4(PPM1D):c.1204_1208del (p.Asn402fs)	PPM1D (N402fs)	Deletion (frameshift variant)	Familial cancer of breast +1 more	GPathogenic
Select item 3024042	NM_000465.4(BARD1):c.575C>T (p.Ser192Phe)	BARD1 (S173F +1 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast	GUncertain significance
Select item 3023777	NM_024675.4(PALB2):c.1235C>T (p.Thr412Ile)	PALB2 (T412I +2 more)	Single nucleotide variant (intron variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 3022409	NM_000465.4(BARD1):c.1395+7G>A	BARD1	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3022133	NM_007194.4(CHEK2):c.1189G>A (p.Val397Ile)	CHEK2 (V176I +4 more)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 3021139	NM_000465.4(BARD1):c.1315-15T>C	BARD1	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3019485	NM_024675.4(PALB2):c.2740T>A (p.Phe914Ile)	PALB2 (F890I +5 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 3019194	NM_024675.4(PALB2):c.3318G>A (p.Met1106Ile)	PALB2 (M1013I +8 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 3017063	NM_024675.4(PALB2):c.2740T>C (p.Phe914Leu)	PALB2 (F890L +5 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 3016798	NM_000465.4(BARD1):c.1903+8T>A	BARD1	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3015778	NM_000465.4(BARD1):c.7_21del (p.Asp3_Pro7del)	BARD1	Deletion (inframe_deletion +2 more)	Familial cancer of breast	GUncertain significance
Select item 3015015	NM_000465.4(BARD1):c.1605T>A (p.Asp535Glu)	BARD1 (D516E +3 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast	GUncertain significance
Select item 3012645	NM_024675.4(PALB2):c.2352dup (p.Pro785fs)	PALB2 (P785fs +3 more)	Duplication (frameshift variant +1 more)	Familial cancer of breast	GPathogenic
Select item 3012060	NM_007194.4(CHEK2):c.684-13T>G	CHEK2	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3011589	NM_024675.4(PALB2):c.1561A>T (p.Thr521Ser)	PALB2 (T521S +2 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 3010965	NM_024675.4(PALB2):c.3019A>T (p.Met1007Leu)	PALB2 (M1007L +7 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 3010827	NM_000465.4(BARD1):c.1757G>C (p.Ser586Thr)	BARD1 (S116T +3 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast	GUncertain significance
Select item 3010787	NM_000465.4(BARD1):c.1195T>A (p.Leu399Ile)	BARD1 (L380I +1 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast	GUncertain significance
Select item 3010202	NM_024675.4(PALB2):c.3285delinsGTTAATG (p.Ile1095delinsMetLeuMet)	PALB2	Indel (inframe_indel +1 more)	Familial cancer of breast	GPathogenic
Select item 3010188	NM_007194.4(CHEK2):c.1159_1160delinsG (p.Thr387fs)	CHEK2 (T166fs +4 more)	Indel (frameshift variant)	Familial cancer of breast	GPathogenic
Select item 3009077	NM_007194.4(CHEK2):c.846+2T>G	CHEK2	Single nucleotide variant (splice donor variant)	Familial cancer of breast	GLikely pathogenic
Select item 3008608	NM_024675.4(PALB2):c.256A>C (p.Thr86Pro)	PALB2 (T86P +1 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast	GUncertain significance
Select item 3007621	NM_024675.4(PALB2):c.1685-10del	PALB2	Deletion (intron variant)	Familial cancer of breast	GBenign
Select item 3005433	NM_024675.4(PALB2):c.3114-4T>A	PALB2	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3004841	NM_000465.4(BARD1):c.2149A>G (p.Ile717Val)	BARD1 (I266V +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 3002247	NM_024675.4(PALB2):c.3051T>G (p.Ala1017=)	PALB2	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast	GLikely benign
Select item 3000870	NM_024675.4(PALB2):c.2407_2409dup (p.Asp803_Ser804insAsp)	PALB2	Duplication (inframe_insertion +1 more)	Familial cancer of breast	GUncertain significance
Select item 2997279	NM_000465.4(BARD1):c.1551A>G (p.Gly517=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	Familial cancer of breast	GLikely benign
Select item 2997272	NM_000465.4(BARD1):c.1395+10T>A	BARD1	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 2996236	NM_000465.4(BARD1):c.178C>A (p.Pro60Thr)	BARD1 (P60T)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast	GUncertain significance
Select item 2995281	NM_000465.4(BARD1):c.1903+20G>T	BARD1	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 2993429	NM_024675.4(PALB2):c.3350+8T>A	PALB2	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 2992775	NM_007194.4(CHEK2):c.824A>G (p.Glu275Gly)	CHEK2 (E208G +3 more)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 2991974	NM_000465.4(BARD1):c.1532A>G (p.Lys511Arg)	BARD1 (K492R +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Familial cancer of breast	GUncertain significance
Select item 2990699	NM_000465.4(BARD1):c.477T>C (p.Ser159=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	Familial cancer of breast	GLikely benign
Select item 2986124	NM_024675.4(PALB2):c.1929T>A (p.Phe643Leu)	PALB2 (F348L +3 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 2984374	NM_024675.4(PALB2):c.393G>A (p.Arg131=)	PALB2	Single nucleotide variant (synonymous variant +2 more)	Familial cancer of breast	GLikely benign
Select item 2984352	NM_000465.4(BARD1):c.1425G>C (p.Lys475Asn)	BARD1 (K456N +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Familial cancer of breast	GUncertain significance
Select item 2982425	NM_007194.4(CHEK2):c.593-2A>C	CHEK2	Single nucleotide variant (splice acceptor variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 2982424	NM_007194.4(CHEK2):c.1559dup (p.Arg521fs)	CHEK2 (R492fs +4 more)	Duplication (frameshift variant)	Familial cancer of breast	GUncertain significance
Select item 2976867	NM_000465.4(BARD1):c.1391C>G (p.Pro464Arg)	BARD1 (P445R +1 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast	GUncertain significance
Select item 2973724	NM_007194.4(CHEK2):c.1305A>G (p.Ser435=)	CHEK2	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GLikely benign
Select item 2973583	NM_024675.4(PALB2):c.377A>G (p.Glu126Gly)	PALB2 (E106G +1 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast	GUncertain significance
Select item 2972937	NM_000465.4(BARD1):c.1227T>C (p.Ser409=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	Familial cancer of breast	GLikely benign
Select item 2969994	NM_024675.4(PALB2):c.2515-15C>G	PALB2	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 2968123	NM_007194.4(CHEK2):c.847-14_847-13inv	CHEK2	Inversion (intron variant)	Familial cancer of breast	GUncertain significance
Select item 2963249	NM_000465.4(BARD1):c.1498G>C (p.Asp500His)	BARD1 (D481H +1 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast	GUncertain significance
Select item 2962714	NM_007194.4(CHEK2):c.1521_1524dup (p.Pro509fs)	CHEK2 (P480fs +4 more)	Duplication (frameshift variant)	Familial cancer of breast	GLikely pathogenic
Select item 2962434	NM_000465.4(BARD1):c.1904-6dup	BARD1	Duplication (intron variant)	Familial cancer of breast	GBenign
Select item 2960958	NM_000465.4(BARD1):c.2172G>C (p.Ala724=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast	GLikely benign
Select item 2960124	NM_007194.4(CHEK2):c.444+14A>T	CHEK2	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 2957260	NM_024675.4(PALB2):c.49-17T>G	PALB2	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 2956703	NM_007194.4(CHEK2):c.1383C>A (p.Asp461Glu)	CHEK2 (D394E +4 more)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 2955871	NM_007194.4(CHEK2):c.1306_1307delinsAC (p.Leu436Thr)	CHEK2 (L407T +4 more)	Indel (missense variant)	Familial cancer of breast	GUncertain significance
Select item 2955821	NM_024675.4(PALB2):c.3496G>T (p.Gly1166Cys)	PALB2 (G1142C +10 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 2954485	NM_032043.3(BRIP1):c.447T>A (p.Asp149Glu)	BRIP1 (D149E)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2954481	NM_032043.3(BRIP1):c.507+3A>G	BRIP1	Single nucleotide variant (intron variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2954480	NM_032043.3(BRIP1):c.3022_3047del (p.Leu1008fs)	BRIP1 (L1008fs)	Deletion (frameshift variant)	Familial cancer of breast +1 more	GLikely pathogenic
Select item 2954422	NM_032043.3(BRIP1):c.3698A>G (p.Asn1233Ser)	BRIP1 (N1233S)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2954413	NM_032043.3(BRIP1):c.2874A>C (p.Leu958=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +1 more	GLikely benign
Select item 2954380	NM_032043.3(BRIP1):c.940C>T (p.His314Tyr)	BRIP1 (H314Y)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2954243	NM_032043.3(BRIP1):c.1683G>A (p.Gln561=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +1 more	GLikely benign
Select item 2954144	NM_032043.3(BRIP1):c.1720C>T (p.Pro574Ser)	BRIP1 (P574S)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2954135	NM_032043.3(BRIP1):c.1628+17A>G	BRIP1	Single nucleotide variant (intron variant)	Familial cancer of breast +1 more	GLikely benign
Select item 2954126	NM_032043.3(BRIP1):c.1964C>T (p.Pro655Leu)	BRIP1 (P655L)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2954054	NM_032043.3(BRIP1):c.1935+8G>C	BRIP1	Single nucleotide variant (intron variant)	Familial cancer of breast +1 more	GLikely benign
Select item 2953964	NM_032043.3(BRIP1):c.1795-16T>G	BRIP1	Single nucleotide variant (intron variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2953944	NM_032043.3(BRIP1):c.1501G>C (p.Glu501Gln)	BRIP1 (E501Q)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2953895	NM_032043.3(BRIP1):c.2098-14T>C	BRIP1	Single nucleotide variant (intron variant)	Familial cancer of breast +1 more	GLikely benign
Select item 2953862	NM_032043.3(BRIP1):c.2709G>A (p.Gln903=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +1 more	GLikely benign
Select item 2953826	NM_032043.3(BRIP1):c.2303_2308del (p.Gly768_Leu769del)	BRIP1	Deletion (inframe_deletion)	Familial cancer of breast +1 more	GUncertain significance
Select item 2953750	NM_032043.3(BRIP1):c.1713G>A (p.Leu571=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +1 more	GLikely benign
Select item 2953447	NM_032043.3(BRIP1):c.627+2_627+9dup	BRIP1	Duplication (splice donor variant)	Fanconi anemia complementation group J +1 more	GLikely benign
Select item 2953252	NM_032043.3(BRIP1):c.1341-2A>C	BRIP1	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group J +1 more	GLikely pathogenic
Select item 2953182	NM_032043.3(BRIP1):c.1058A>G (p.Tyr353Cys)	BRIP1 (Y353C)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +1 more	GUncertain significance
Select item 2953115	NM_032043.3(BRIP1):c.3301C>T (p.Pro1101Ser)	BRIP1 (P1101S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +1 more	GUncertain significance
Select item 2953072	NM_032043.3(BRIP1):c.1794+2T>G	BRIP1	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group J +1 more	GLikely pathogenic
Select item 2953041	NM_032043.3(BRIP1):c.1969G>A (p.Gly657Ser)	BRIP1 (G657S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +1 more	GUncertain significance
Select item 2952981	NM_032043.3(BRIP1):c.2248G>A (p.Gly750Arg)	BRIP1 (G750R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +1 more	GUncertain significance
Select item 2952873	NM_032043.3(BRIP1):c.918+14T>G	BRIP1	Single nucleotide variant (intron variant)	Fanconi anemia complementation group J +1 more	GLikely benign
Select item 2952746	NM_032043.3(BRIP1):c.206-15_206-14insTATTATAAATAGAC	BRIP1	Insertion (intron variant)	Fanconi anemia complementation group J +1 more	GUncertain significance
Select item 2952700	NM_032043.3(BRIP1):c.2628T>A (p.Ser876Arg)	BRIP1 (S876R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +1 more	GUncertain significance
Select item 2952627	NM_032043.3(BRIP1):c.1141-12T>C	BRIP1	Single nucleotide variant (intron variant)	Fanconi anemia complementation group J +1 more	GLikely benign
Select item 2952612	NM_032043.3(BRIP1):c.1824G>A (p.Gln608=)	BRIP1	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group J +1 more	GLikely benign
Select item 2952608	NM_032043.3(BRIP1):c.1410A>C (p.Gly470=)	BRIP1	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group J +1 more	GLikely benign
Select item 2952515	NM_032043.3(BRIP1):c.97C>G (p.Leu33Val)	BRIP1 (L33V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +1 more	GUncertain significance
Select item 2952416	NM_032043.3(BRIP1):c.1826C>T (p.Thr609Ile)	BRIP1 (T609I)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +1 more	GUncertain significance
Select item 2952308	NM_032043.3(BRIP1):c.327C>T (p.Asn109=)	BRIP1	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group J +1 more	GLikely benign
Select item 2952273	NM_032043.3(BRIP1):c.263G>A (p.Cys88Tyr)	BRIP1 (C88Y)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +1 more	GUncertain significance
Select item 2952272	NM_032043.3(BRIP1):c.2979C>T (p.Phe993=)	BRIP1	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group J +1 more	GLikely benign
Select item 2952255	NM_032043.3(BRIP1):c.2858C>A (p.Thr953Asn)	BRIP1 (T953N)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +1 more	GUncertain significance
Select item 2952245	NM_032043.3(BRIP1):c.1007A>T (p.Asp336Val)	BRIP1 (D336V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +1 more	GUncertain significance
Select item 2952105	NM_032043.3(BRIP1):c.463_464insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATGATGATTTTC (p.Phe154_Gln155insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerXaaXaaXaaXaaLysLysLysLysLysLysGluAsnAspAspPhe)	BRIP1	Insertion (inframe_insertion)	Fanconi anemia complementation group J +1 more	GPathogenic
Select item 2951914	NM_032043.3(BRIP1):c.2258-9_2258-8dup	BRIP1	Duplication (intron variant)	Fanconi anemia complementation group J +1 more	GLikely benign
Select item 2951878	NM_032043.3(BRIP1):c.1182dup (p.Ala395fs)	BRIP1 (A395fs)	Duplication (frameshift variant)	Fanconi anemia complementation group J +1 more	GPathogenic

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