ClinVar for OMIM (Select 211980) - ClinVar - NCBI

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

Links from OMIM

Items: 1 to 100 of 252

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068197	NM_005228.5(EGFR):c.2639G>C (p.Trp880Ser)	EGFR (W613S +3 more)	Single nucleotide variant (missense variant)	Lung cancer	GUncertain significance
Select item 3068138	NM_005228.5(EGFR):c.2701+1G>A	EGFR	Single nucleotide variant (splice donor variant)	Lung cancer	GUncertain significance
Select item 3065576	NM_001372051.1(CASP8):c.320del (p.Gln107fs)	CASP8 (Q107fs +3 more)	Deletion (frameshift variant +2 more)	Lung cancer	GLikely pathogenic
Select item 2578363	NM_005228.5(EGFR):c.2317delinsAACCCCT (p.His773delinsAsnProTyr)	EGFR, EGFR-AS1	Indel (non-coding transcript variant +1 more)	Lung cancer	GPathogenic
Select item 1705031	NM_004304.5(ALK):c.3538G>C (p.Val1180Leu)	ALK (V112L +1 more)	Single nucleotide variant (missense variant)	Lung cancer	GLikely pathogenic
Select item 1651604	NM_004333.6(BRAF):c.1432+17_1432+19del	BRAF	Microsatellite (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +8 more	GBenign/Likely benign
Select item 1624632	NM_004333.6(BRAF):c.1338G>A (p.Ser446=)	BRAF	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +8 more	GLikely benign
Select item 1593486	NM_004333.6(BRAF):c.1433-18G>A	BRAF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +7 more	GLikely benign
Select item 1569131	NM_004333.6(BRAF):c.298T>C (p.Leu100=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	RASopathy +7 more	GLikely benign
Select item 1554615	NM_004333.6(BRAF):c.1992+15C>T	BRAF	Single nucleotide variant (intron variant)	RASopathy +7 more	GLikely benign
Select item 1545692	NM_004333.6(BRAF):c.2128-27_2128-19del	BRAF	Deletion (intron variant)	RASopathy +7 more	GLikely benign
Select item 1521434	NM_000124.4(ERCC6):c.2037A>G (p.Gln679=)	ERCC6	Single nucleotide variant (synonymous variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 1516113	NM_000124.4(ERCC6):c.4015T>C (p.Phe1339Leu)	ERCC6 (F1339L)	Single nucleotide variant (missense variant)	Age related macular degeneration 5 +8 more	GUncertain significance
Select item 1513564	NM_004304.5(ALK):c.3607G>A (p.Asp1203Asn)	ALK (D1203N +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1481031	NM_005228.5(EGFR):c.676A>C (p.Lys226Gln)	EGFR (K173Q +2 more)	Single nucleotide variant (missense variant +1 more)	Lung cancer +2 more	GUncertain significance
Select item 1478309	NM_004333.6(BRAF):c.124G>T (p.Ala42Ser)	BRAF (A42S)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +7 more	GUncertain significance
Select item 1445848	NM_004333.6(BRAF):c.26G>C (p.Gly9Ala)	BRAF (G9A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GUncertain significance
Select item 1431181	NM_000124.4(ERCC6):c.2705A>G (p.Asn902Ser)	ERCC6 (N902S)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 1 +7 more	GUncertain significance
Select item 1410272	NM_004333.6(BRAF):c.2140A>G (p.Ile714Val)	BRAF (I662V +7 more)	Single nucleotide variant (missense variant +1 more)	Lung cancer +7 more	GUncertain significance
Select item 1402237	NM_004562.3(PRKN):c.551A>T (p.Asp184Val)	PRKN (D184V)	Single nucleotide variant (missense variant +1 more)	Lung cancer +3 more	GUncertain significance
Select item 1335654	NM_004562.3(PRKN):c.73C>T (p.Gln25Ter)	PRKN (Q25*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1334201	NM_004333.6(BRAF):c.2128-10_2128-9insC	BRAF	Insertion (intron variant)	Cardiofaciocutaneous syndrome 1 +8 more	GBenign/Likely benign
Select item 1333599	NM_000124.4(ERCC6):c.2212A>C (p.Ile738Leu)	ERCC6 (I738L)	Single nucleotide variant (missense variant)	Cockayne syndrome type 2 +8 more	GConflicting classifications of pathogenicity
Select item 1333190	NM_006164.5(NFE2L2):c.246A>T (p.Glu82Asp)	NFE2L2 (E66D +1 more)	Single nucleotide variant (missense variant +1 more)	Lung cancer	GLikely pathogenic
Select item 1333189	NM_003482.4(KMT2D):c.4379dup (p.Leu1461fs)	KMT2D (L1461fs)	Duplication (frameshift variant)	Lung cancer +1 more	GPathogenic/Likely pathogenic
Select item 1321658	NM_000124.4(ERCC6):c.721C>T (p.Arg241Cys)	ERCC6 (R241C)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 1 +7 more	GUncertain significance
Select item 1320770	NM_004333.6(BRAF):c.1061G>A (p.Arg354Gln)	BRAF, LOC126860202 (R266Q +4 more)	Single nucleotide variant (missense variant)	LEOPARD syndrome 3 +8 more	GUncertain significance
Select item 1319116	NM_004333.6(BRAF):c.1897T>C (p.Tyr633His)	BRAF (Y545H +7 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +7 more	GUncertain significance
Select item 1259680	NM_004562.3(PRKN):c.172-38dup	PRKN	Duplication (intron variant)	Autosomal recessive juvenile Parkinson disease 2 +3 more	GBenign
Select item 1246877	NM_005228.5(EGFR):c.-216G>T	EGFR	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 1232163	NM_005228.5(EGFR):c.-191A>C	EGFR	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 1219871	NM_004333.6(BRAF):c.260G>A (p.Ser87Asn)	BRAF (S35N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +8 more	GUncertain significance
Select item 1214221	NM_000124.4(ERCC6):c.1820A>T (p.Lys607Met)	ERCC6 (K607M)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 1205197	NM_004333.6(BRAF):c.1993-11T>C	BRAF	Single nucleotide variant (intron variant)	Lung cancer +8 more	GLikely benign
Select item 1154928	NM_004333.6(BRAF):c.1848C>A (p.Ser616=)	BRAF	Single nucleotide variant (synonymous variant)	Noonan syndrome 1 +8 more	GLikely benign
Select item 1147384	NM_004333.6(BRAF):c.1719C>A (p.Ile573=)	BRAF	Single nucleotide variant (synonymous variant)	Noonan syndrome 1 +7 more	GLikely benign
Select item 1131890	NM_000124.4(ERCC6):c.804A>G (p.Ala268=)	ERCC6	Single nucleotide variant (synonymous variant)	not provided +7 more	GLikely benign
Select item 1130407	NM_004562.3(PRKN):c.219G>A (p.Pro73=)	PRKN	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive juvenile Parkinson disease 2 +3 more	GLikely benign
Select item 1091347	NM_004333.6(BRAF):c.915G>A (p.Ala305=)	BRAF	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 1047782	NM_004333.6(BRAF):c.112G>C (p.Ala38Pro)	BRAF (A38P)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +8 more	GUncertain significance
Select item 1046139	NM_004985.5(KRAS):c.388_389delinsAT (p.Ala130Ile)	KRAS (A130I)	Indel (missense variant)	Malignant tumor of urinary bladder +12 more	GUncertain significance
Select item 1034077	NM_000124.4(ERCC6):c.2093dup (p.Thr699fs)	ERCC6 (T699fs)	Duplication (frameshift variant)	UV-sensitive syndrome 1 +7 more	GPathogenic
Select item 1014501	NM_005228.5(EGFR):c.2402A>G (p.Tyr801Cys)	EGFR, EGFR-AS1 (Y534C +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Lung cancer +1 more	GConflicting classifications of pathogenicity
Select item 998032	NM_000124.4(ERCC6):c.[1727C>G;1834C>T]	ERCC6 (R612* +1 more)	Single nucleotide variant (nonsense +1 more)	Cerebrooculofacioskeletal syndrome 1	GPathogenic
Select item 997471	NM_005228.5(EGFR):c.3092G>A (p.Arg1031Gln)	EGFR (R1031Q +3 more)	Single nucleotide variant (missense variant)	Lung cancer +1 more	GUncertain significance
Select item 997470	NM_005228.5(EGFR):c.3272A>C (p.Glu1091Ala)	EGFR (E1038A +3 more)	Single nucleotide variant (missense variant)	Lung cancer	GUncertain significance
Select item 997456	NM_005228.5(EGFR):c.3271+49del	EGFR (H1062fs +1 more)	Deletion (frameshift variant +1 more)	Lung cancer +1 more	GUncertain significance
Select item 996155	NM_005902.4(SMAD3):c.207-32200C>T	SMAD3	Single nucleotide variant (intron variant)	Lung cancer	Gconfers sensitivity
Select item 996154	NM_001127217.3(SMAD9):c.-186-7998T>C	SMAD9	Single nucleotide variant (intron variant)	Lung cancer	Gconfers sensitivity
Select item 996153	NC_000020.11:g.6786464A>G	BMP2	Single nucleotide variant	Lung cancer	Gconfers sensitivity
Select item 946993	NM_004562.3(PRKN):c.353G>C (p.Gly118Ala)	PRKN (G118A)	Single nucleotide variant (missense variant +1 more)	Lung cancer +3 more	GUncertain significance
Select item 910575	NM_004333.6(BRAF):c.1180T>C (p.Ser394Pro)	BRAF (S342P +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +7 more	GUncertain significance
Select item 907165	NM_004562.3(PRKN):c.*121A>C	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2 +2 more	GUncertain significance
Select item 907164	NM_004562.3(PRKN):c.*140A>G	PRKN	Single nucleotide variant (3 prime UTR variant)	Lung cancer +2 more	GUncertain significance
Select item 903886	NM_004562.3(PRKN):c.247A>G (p.Thr83Ala)	PRKN (T83A)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 878360	NM_000124.4(ERCC6):c.3983+4A>G	ERCC6	Single nucleotide variant (intron variant)	Premature ovarian failure 11 +6 more	GUncertain significance
Select item 854259	NM_005228.5(EGFR):c.1532C>A (p.Ser511Tyr)	EGFR (S466Y +3 more)	Single nucleotide variant (missense variant)	Lung cancer +3 more	GUncertain significance
Select item 846957	NM_004562.3(PRKN):c.337_376del (p.Pro113fs)	PRKN (P113fs)	Deletion (frameshift variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 837195	NM_005228.5(EGFR):c.1936A>C (p.Ile646Leu)	EGFR (I593L +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer +1 more	GUncertain significance
Select item 806468	NM_001277058.2(ERCC6):c.2552T>C (p.Val851Ala)	ERCC6, PGBD3 (V851A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +8 more	GUncertain significance
Select item 802321	NM_005228.5(EGFR):c.3320A>G (p.Asn1107Ser)	EGFR (N1107S +3 more)	Single nucleotide variant (missense variant)	Lung carcinoma	GUncertain significance
Select item 802320	NM_005228.5(EGFR):c.2896A>G (p.Ile966Val)	EGFR (I913V +3 more)	Single nucleotide variant (missense variant)	Lung carcinoma	GLikely benign
Select item 802319	NM_005228.5(EGFR):c.2469+8G>A	EGFR, EGFR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Lung carcinoma +1 more	GConflicting classifications of pathogenicity
Select item 802318	NM_005228.5(EGFR):c.1920-100A>G	EGFR	Single nucleotide variant (intron variant)	Lung carcinoma	GLikely benign
Select item 802317	NM_005228.5(EGFR):c.1840G>A (p.Gly614Ser)	EGFR (G561S +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer +1 more	GConflicting classifications of pathogenicity
Select item 802316	NM_005228.5(EGFR):c.1472T>C (p.Ile491Thr)	EGFR (I224T +3 more)	Single nucleotide variant (missense variant)	Lung carcinoma	GLikely benign
Select item 802315	NM_005228.5(EGFR):c.559+46G>A	EGFR	Single nucleotide variant (intron variant)	Lung carcinoma	GLikely benign
Select item 802314	NM_005228.5(EGFR):c.551T>C (p.Leu184Pro)	EGFR (L131P +1 more)	Single nucleotide variant (missense variant +1 more)	EGFR-related lung cancer +1 more	GConflicting classifications of pathogenicity
Select item 802313	NM_005228.5(EGFR):c.551T>A (p.Leu184Gln)	EGFR (L131Q +1 more)	Single nucleotide variant (missense variant +1 more)	EGFR-related lung cancer +1 more	GConflicting classifications of pathogenicity
Select item 802312	NM_005228.5(EGFR):c.59C>A (p.Pro20Gln)	EGFR (P20Q)	Single nucleotide variant (missense variant)	EGFR-related lung cancer +1 more	GUncertain significance
Select item 802311	NM_005228.5(EGFR):c.-106G>A	EGFR	Single nucleotide variant (5 prime UTR variant)	Lung carcinoma	GLikely benign
Select item 704330	NM_004333.6(BRAF):c.1206C>A (p.Pro402=)	BRAF	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +9 more	GLikely benign
Select item 697532	NM_004562.3(PRKN):c.276G>A (p.Ala92=)	PRKN	Single nucleotide variant (synonymous variant +1 more)	Neoplasm of ovary +3 more	GLikely benign
Select item 696485	NM_004562.3(PRKN):c.714C>T (p.Cys238=)	PRKN	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 696161	NM_004562.3(PRKN):c.837C>T (p.His279=)	PRKN	Single nucleotide variant (synonymous variant)	Autosomal recessive juvenile Parkinson disease 2 +3 more	GLikely benign
Select item 691718	NM_004333.6(BRAF):c.1205C>A (p.Pro402His)	BRAF (P402H +5 more)	Single nucleotide variant (missense variant +1 more)	LEOPARD syndrome 3 +10 more	GUncertain significance
Select item 649511	NM_004562.3(PRKN):c.799T>C (p.Tyr267His)	PRKN (Y239H +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 627530	t(2;3)(p12;p14.3)	SLMAP, ALK	Translocation	Lung carcinoma	GPathogenic
Select item 626130	NM_033360.4(KRAS):c.112-5C>T	KRAS	Single nucleotide variant (intron variant)	RASopathy +12 more	GConflicting classifications of pathogenicity
Select item 625904	NM_001372051.1(CASP8):c.159G>A (p.Met53Ile)	CASP8 (M53I +1 more)	Single nucleotide variant (missense variant +3 more)	Familial cancer of breast +3 more	GUncertain significance
Select item 620625	NM_033360.4(KRAS):c.101_106del	KRAS	Deletion (3 prime UTR variant +1 more)	Cerebral arteriovenous malformation +13 more	GUncertain significance
Select item 584703	NM_005228.5(EGFR):c.3629C>T (p.Ala1210Val)	EGFR (A1210V +3 more)	Single nucleotide variant (missense variant)	Diffuse midline glioma, H3 K27-altered +5 more	GConflicting classifications of pathogenicity
Select item 584702	NM_005228.5(EGFR):c.3352G>A (p.Ala1118Thr)	EGFR (A1118T +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer +2 more	GConflicting classifications of pathogenicity
Select item 584696	NM_005228.5(EGFR):c.2485G>C (p.Glu829Gln)	EGFR (E829Q +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer +1 more	GUncertain significance
Select item 584692	NM_005228.5(EGFR):c.1916A>C (p.Asn639Thr)	EGFR (N639T +3 more)	Single nucleotide variant (missense variant)	Lung carcinoma +1 more	GUncertain significance
Select item 584689	NM_005228.5(EGFR):c.1774G>A (p.Val592Ile)	EGFR (V592I +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer +3 more	GBenign/Likely benign
Select item 584686	NM_005228.5(EGFR):c.509G>A (p.Ser170Asn)	EGFR (S170N +1 more)	Single nucleotide variant (missense variant +1 more)	EGFR-related lung cancer +1 more	GConflicting classifications of pathogenicity
Select item 584684	NM_005228.5(EGFR):c.116C>T (p.Thr39Met)	EGFR (T39M)	Single nucleotide variant (missense variant +2 more)	EGFR-related lung cancer +1 more	GUncertain significance
Select item 578186	NM_004562.3(PRKN):c.98G>A (p.Arg33Gln)	PRKN (R33Q)	Single nucleotide variant (missense variant)	Neoplasm of ovary +4 more	GPathogenic/Likely pathogenic
Select item 577057	NM_004562.3(PRKN):c.930G>C (p.Glu310Asp)	PRKN (E310D +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 561862	NM_004333.6(BRAF):c.1694+13C>T	BRAF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +8 more	GLikely benign
Select item 561797	NM_004333.6(BRAF):c.1940A>G (p.Tyr647Cys)	BRAF (Y647C +7 more)	Single nucleotide variant (missense variant)	Lung carcinoma +6 more	GUncertain significance
Select item 551705	NM_000124.4(ERCC6):c.-14-2A>G	ERCC6, ERCC6-PGBD3	Single nucleotide variant (intron variant +1 more)	not specified +7 more	GUncertain significance
Select item 551374	NM_000124.4(ERCC6):c.2287-2A>G	ERCC6	Single nucleotide variant (splice acceptor variant)	Cockayne syndrome type 2 +8 more	GPathogenic/Likely pathogenic
Select item 547404	NM_003482.4(KMT2D):c.1940del (p.Pro647fs)	KMT2D (P647fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 536457	NM_004562.3(PRKN):c.155del (p.Asn52fs)	PRKN (N52fs)	Deletion (frameshift variant)	Autosomal recessive juvenile Parkinson disease 2 +3 more	GPathogenic
Select item 526641	NM_006218.4(PIK3CA):c.436G>A (p.Val146Ile)	PIK3CA (V146I)	Single nucleotide variant (missense variant)	Cowden syndrome +14 more	GUncertain significance
Select item 526637	NM_006218.4(PIK3CA):c.2651A>G (p.Lys884Arg)	PIK3CA (K884R)	Single nucleotide variant (missense variant)	not provided +16 more	GUncertain significance
Select item 514636	NM_004333.6(BRAF):c.504+19C>T	BRAF	Single nucleotide variant (intron variant)	LEOPARD syndrome 3 +8 more	GBenign/Likely benign
Select item 496491	NM_033360.4(KRAS):c.4+5G>A	KRAS	Single nucleotide variant (intron variant)	Noonan syndrome 3 +12 more	GBenign/Likely benign

<< First< Prev

Page of 3