9821[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 144

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	ADAM18, ADAM2 +543 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +491 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 153587	GRCh38/hg38 8q11.21-11.23(chr8:47338394-52753188)x3	ALKAL1, CEBPD +90 more	Copy number gain	See cases	GUncertain significance
Select item 154575	GRCh38/hg38 8q11.21-12.1(chr8:49471778-57825470)x1	ALKAL1, ATP6V1H +175 more	Copy number loss	See cases	GPathogenic
Select item 148374	GRCh38/hg38 8q11.23(chr8:52294744-53104010)x3	ALKAL1, LOC108281129 +17 more	Copy number gain	See cases	GLikely benign
Select item 150753	GRCh38/hg38 8q11.23(chr8:52387273-52944183)x3	ALKAL1, LOC108281129 +13 more	Copy number gain	See cases	GLikely benign
Select item 150998	GRCh38/hg38 8q11.23(chr8:52387348-52986011)x3	ALKAL1, LOC108281129 +13 more	Copy number gain	See cases	GUncertain significance
Select item 545362	Single allele	ALKAL1, LOC108281129 +3 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 545363	Single allele	ALKAL1, LOC108281129 +3 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 545364	Single allele	ALKAL1, LOC126860387 +10 more	Duplication	Autism	GLikely pathogenic
Select item 152322	GRCh38/hg38 8q11.23(chr8:52513633-52875424)x3	ALKAL1, LOC126860387 +10 more	Copy number gain	See cases	GUncertain significance
Select item 149393	GRCh38/hg38 8q11.23(chr8:52513649-52822370)x3	ALKAL1, LOC126860387 +9 more	Copy number gain	See cases	GLikely benign
Select item 545365	Single allele	ALKAL1, LOC126860387 +4 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 545366	Single allele	ALKAL1, LOC126860387 +10 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 151997	GRCh38/hg38 8q11.23(chr8:52554777-52875424)x3	ALKAL1, LOC126860388 +9 more	Copy number gain	See cases	GUncertain significance
Select item 545367	Single allele	ALKAL1, LOC126860388 +9 more	Duplication	Autism	GLikely pathogenic
Select item 3976	NC_000008.11:g.52623770_52685461del	RB1CC1	Deletion	Breast adenocarcinoma	GPathogenic
Select item 2271774	NM_014781.5(RB1CC1):c.4762G>A (p.Val1588Ile)	RB1CC1 (V1585I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3977	nsv1067861	RB1CC1	Deletion	Breast adenocarcinoma	GPathogenic
Select item 776329	NM_014781.5(RB1CC1):c.4533A>G (p.Leu1511=)	RB1CC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2290660	NM_014781.5(RB1CC1):c.4469C>T (p.Ser1490Leu)	RB1CC1 (S1490L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785249	NM_014781.5(RB1CC1):c.4401A>G (p.Gln1467=)	RB1CC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2537247	NM_014781.5(RB1CC1):c.4356G>T (p.Leu1452Phe)	RB1CC1 (L1452F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788734	NM_014781.5(RB1CC1):c.4351A>G (p.Met1451Val)	RB1CC1 (M1451V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3152034	NM_014781.5(RB1CC1):c.4348C>A (p.His1450Asn)	RB1CC1 (H1450N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776330	NM_014781.5(RB1CC1):c.4284A>C (p.Thr1428=)	RB1CC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3313081	NM_014781.5(RB1CC1):c.4273G>A (p.Ala1425Thr)	RB1CC1 (A1425T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790607	NM_014781.5(RB1CC1):c.4272C>T (p.Ser1424=)	RB1CC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3313091	NM_014781.5(RB1CC1):c.4213A>G (p.Thr1405Ala)	RB1CC1 (T1405A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3313085	NM_014781.5(RB1CC1):c.4147A>G (p.Lys1383Glu)	RB1CC1 (K1383E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313086	NM_014781.5(RB1CC1):c.4129C>T (p.Arg1377Cys)	RB1CC1 (R1377C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152033	NM_014781.5(RB1CC1):c.4087C>T (p.Arg1363Trp)	RB1CC1 (R1363W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313087	NM_014781.5(RB1CC1):c.4072A>G (p.Met1358Val)	RB1CC1 (M1358V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268301	NM_014781.5(RB1CC1):c.4034A>G (p.Asn1345Ser)	RB1CC1 (N1345S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390300	NM_014781.5(RB1CC1):c.4022T>C (p.Met1341Thr)	RB1CC1 (M1341T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789296	NM_014781.5(RB1CC1):c.3942T>A (p.Asn1314Lys)	RB1CC1 (N1314K)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2378161	NM_014781.5(RB1CC1):c.3851C>T (p.Ser1284Phe)	RB1CC1 (S1284F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736921	NM_014781.5(RB1CC1):c.3831T>C (p.Ile1277=)	RB1CC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2618295	NM_014781.5(RB1CC1):c.3749A>C (p.Lys1250Thr)	RB1CC1 (K1250T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658599	NM_014781.5(RB1CC1):c.3703_3706del (p.Asn1235fs)	RB1CC1 (N1235fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2363701	NM_014781.5(RB1CC1):c.3647G>A (p.Arg1216Lys)	RB1CC1 (R1216K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3152032	NM_014781.5(RB1CC1):c.3646A>G (p.Arg1216Gly)	RB1CC1 (R1216G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209261	NM_014781.5(RB1CC1):c.3616G>A (p.Glu1206Lys)	RB1CC1 (E1206K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353769	NM_014781.5(RB1CC1):c.3601C>G (p.Gln1201Glu)	RB1CC1 (Q1201E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495910	NM_014781.5(RB1CC1):c.3583G>T (p.Asp1195Tyr)	RB1CC1 (D1195Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285087	NM_014781.5(RB1CC1):c.3507A>C (p.Glu1169Asp)	RB1CC1 (E1169D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256395	NM_014781.5(RB1CC1):c.3489C>A (p.Asn1163Lys)	RB1CC1 (N1163K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525189	NM_014781.5(RB1CC1):c.3346G>A (p.Glu1116Lys)	RB1CC1 (E1116K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776331	NM_014781.5(RB1CC1):c.3195G>A (p.Ala1065=)	RB1CC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3152031	NM_014781.5(RB1CC1):c.3167C>T (p.Thr1056Met)	RB1CC1 (T1056M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2265967	NM_014781.5(RB1CC1):c.3145A>G (p.Lys1049Glu)	RB1CC1 (K1049E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356194	NM_014781.5(RB1CC1):c.3133G>A (p.Glu1045Lys)	RB1CC1 (E1045K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313089	NM_014781.5(RB1CC1):c.3102A>C (p.Glu1034Asp)	RB1CC1 (E1034D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323173	NM_014781.5(RB1CC1):c.3101A>C (p.Glu1034Ala)	RB1CC1 (E1034A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3152030	NM_014781.5(RB1CC1):c.3100G>A (p.Glu1034Lys)	RB1CC1 (E1034K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152029	NM_014781.5(RB1CC1):c.3085C>A (p.Gln1029Lys)	RB1CC1 (Q1029K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152028	NM_014781.5(RB1CC1):c.3068A>T (p.Gln1023Leu)	RB1CC1 (Q1023L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152027	NM_014781.5(RB1CC1):c.3023C>G (p.Thr1008Arg)	RB1CC1 (T1008R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732323	NM_014781.5(RB1CC1):c.2976G>A (p.Glu992=)	RB1CC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3152026	NM_014781.5(RB1CC1):c.2886A>T (p.Leu962Phe)	RB1CC1 (L962F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313088	NM_014781.5(RB1CC1):c.2872G>T (p.Val958Leu)	RB1CC1 (V958L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152025	NM_014781.5(RB1CC1):c.2819T>C (p.Ile940Thr)	RB1CC1 (I940T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313093	NM_014781.5(RB1CC1):c.2720A>G (p.Gln907Arg)	RB1CC1 (Q907R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611534	NM_014781.5(RB1CC1):c.2687A>G (p.Lys896Arg)	RB1CC1 (K896R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382358	NM_014781.5(RB1CC1):c.2638G>A (p.Gly880Arg)	RB1CC1 (G880R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535585	NM_014781.5(RB1CC1):c.2546A>G (p.Glu849Gly)	RB1CC1 (E849G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313090	NM_014781.5(RB1CC1):c.2471C>G (p.Thr824Arg)	RB1CC1 (T824R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299149	NM_014781.5(RB1CC1):c.2394G>C (p.Leu798Phe)	RB1CC1 (L798F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527157	NM_014781.5(RB1CC1):c.2390A>T (p.Gln797Leu)	RB1CC1 (Q797L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238602	NM_014781.5(RB1CC1):c.2358G>C (p.Glu786Asp)	RB1CC1 (E786D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219537	NM_014781.5(RB1CC1):c.2242C>T (p.Pro748Ser)	RB1CC1 (P748S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376811	NM_014781.5(RB1CC1):c.2221A>G (p.Ile741Val)	RB1CC1 (I741V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717929	NM_014781.5(RB1CC1):c.2061A>G (p.Leu687=)	RB1CC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2304767	NM_014781.5(RB1CC1):c.2002C>T (p.Pro668Ser)	RB1CC1 (P668S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313092	NM_014781.5(RB1CC1):c.1861G>A (p.Ala621Thr)	RB1CC1 (A621T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255458	NM_014781.5(RB1CC1):c.1849A>C (p.Asn617His)	RB1CC1 (N617H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604192	NM_014781.5(RB1CC1):c.1810G>A (p.Asp604Asn)	RB1CC1 (D604N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1685423	NM_014781.5(RB1CC1):c.1702C>T (p.Arg568Ter)	RB1CC1 (R568*)	Single nucleotide variant (nonsense)	Familial cancer of breast	GLikely pathogenic
Select item 3152024	NM_014781.5(RB1CC1):c.1426G>A (p.Val476Ile)	RB1CC1 (V476I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515624	NM_014781.5(RB1CC1):c.1421G>A (p.Arg474His)	RB1CC1 (R474H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252318	NM_014781.5(RB1CC1):c.1366T>G (p.Cys456Gly)	RB1CC1 (C456G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790057	NM_014781.5(RB1CC1):c.1083C>T (p.Ala361=)	RB1CC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3152022	NM_014781.5(RB1CC1):c.1066A>C (p.Asn356His)	RB1CC1 (N356H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713686	NM_014781.5(RB1CC1):c.1053T>C (p.Ile351=)	RB1CC1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 768241	NM_014781.5(RB1CC1):c.1003-7C>G	RB1CC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2515041	NM_014781.5(RB1CC1):c.997A>G (p.Ser333Gly)	RB1CC1 (S333G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373004	NM_014781.5(RB1CC1):c.881T>C (p.Ile294Thr)	RB1CC1 (I294T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776332	NM_014781.5(RB1CC1):c.877A>G (p.Thr293Ala)	RB1CC1 (T293A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3152036	NM_014781.5(RB1CC1):c.808G>A (p.Ala270Thr)	RB1CC1 (A270T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3152035	NM_014781.5(RB1CC1):c.797C>G (p.Ser266Cys)	RB1CC1 (S266C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 760988	NM_014781.5(RB1CC1):c.783A>C (p.Ser261=)	RB1CC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2323045	NM_014781.5(RB1CC1):c.753C>G (p.Asn251Lys)	RB1CC1 (N251K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658600	NM_014781.5(RB1CC1):c.744A>G (p.Arg248=)	RB1CC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

<< First< Prev

Page of 2