15520[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 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 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 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 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 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 more	Copy number gain	See cases	GPathogenic
Select item 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009620, LOC130009621 +781 more	Copy number loss	See cases	GPathogenic
Select item 149761	GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1	AKAP11, ALG5 +485 more	Copy number loss	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	LOC130009600, LOC130009601 +735 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009611, LOC130009612 +938 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 144214	GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1	LINC00400, LINC02333 +604 more	Copy number loss	See cases	GPathogenic
Select item 152095	GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1	LOC130009665, LOC130009659 +612 more	Copy number loss	See cases	GPathogenic
Select item 152159	GRCh38/hg38 13q13.3-14.3(chr13:38514177-51425214)x1	LOC126861769, LOC126861770 +437 more	Copy number loss	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 147318	GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1	LOC130009942, LOC130009943 +733 more	Copy number loss	See cases	GPathogenic
Select item 144462	GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3	ALG11, ARL11 +729 more	Copy number gain	See cases	GPathogenic
Select item 57643	GRCh38/hg38 13q14.11-14.2(chr13:43505396-49983668)x1	LOC126861771, LOC126861772 +215 more	Copy number loss	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009917, LOC130009918 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ARHGEF7-AS1, ARHGEF7-AS2 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57227	GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1	LOC130009879, LOC130009880 +657 more	Copy number loss	See cases	GPathogenic
Select item 545122	NC_000013.11:g.46968080_87381985del40413906	ACOD1, ALG11 +530 more	Deletion	Chromosome 13q14 deletion syndrome	GPathogenic
Select item 147464	GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1	OBI1-AS1, OLFM4 +513 more	Copy number loss	See cases	GPathogenic
Select item 154070	GRCh38/hg38 13q14.2-21.31(chr13:47765202-62058520)x1	ALG11, ARL11 +266 more	Copy number loss	See cases	GPathogenic
Select item 583677	NC_000013.11:g.(?_48303903)_(48480081_?)del	LOC130009754, LOC130009755 +2 more	Deletion	Retinoblastoma	GPathogenic
Select item 527953	NC_000013.11:g.(?_48303907)_(48480077_?)del	LOC130009754, LOC130009755 +2 more	Deletion	Retinoblastoma	GPathogenic
Select item 147435	GRCh38/hg38 13q14.2-14.3(chr13:48307302-50927473)x1	ARL11, CAB39L +101 more	Copy number loss	See cases	GPathogenic
Select item 1234731	NM_000321.3(RB1):c.1695+29860G>T	LPAR6, RB1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1704919	NM_000321.3(RB1):c.1695+29942T>C	LPAR6, RB1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3291158	NM_001162498.3(LPAR6):c.964G>T (p.Ala322Ser)	LPAR6, RB1 (A322S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3119727	NM_001162498.3(LPAR6):c.933A>T (p.Arg311Ser)	LPAR6, RB1 (R311S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3250465	NM_001162498.3(LPAR6):c.924del (p.Val309fs)	LPAR6, RB1 (V309fs)	Deletion (frameshift variant +1 more)	Hypotrichosis 8	GLikely pathogenic
Select item 774331	NM_000321.3(RB1):c.1695+30060C>A	LPAR6, RB1 (W307C)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 2505342	NM_001162498.3(LPAR6):c.833G>A (p.Cys278Tyr)	LPAR6, RB1 (C278Y)	Single nucleotide variant (missense variant +1 more)	Hypotrichosis 8	GLikely pathogenic
Select item 2505341	NM_001162498.3(LPAR6):c.830T>C (p.Leu277Pro)	LPAR6, RB1 (L277P)	Single nucleotide variant (missense variant +1 more)	Hypotrichosis 8	GLikely pathogenic
Select item 802971	NM_000321.3(RB1):c.1695+30162G>T	LPAR6, RB1 (Y273*)	Single nucleotide variant (nonsense +1 more)	Retinoblastoma	GLikely benign
Select item 2206065	NM_001162498.3(LPAR6):c.815T>C (p.Met272Thr)	LPAR6, RB1 (M272T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 780057	NM_001162498.3(LPAR6):c.801A>C (p.Ala267=)	LPAR6, RB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2493267	NM_001162498.3(LPAR6):c.794T>C (p.Val265Ala)	LPAR6, RB1 (V265A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3044183	NM_001162498.3(LPAR6):c.756T>C (p.Tyr252=)	LPAR6, RB1	Single nucleotide variant (synonymous variant +1 more)	LPAR6-related disorder	GLikely benign
Select item 2505340	NM_001162498.3(LPAR6):c.742A>T (p.Asn248Tyr)	LPAR6, RB1 (N248Y)	Single nucleotide variant (missense variant +1 more)	Hypotrichosis 8	GLikely pathogenic
Select item 2491821	NM_001162498.3(LPAR6):c.728T>C (p.Val243Ala)	LPAR6, RB1 (V243A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2275172	NM_001162498.3(LPAR6):c.709A>G (p.Ile237Val)	LPAR6, RB1 (I237V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2287621	NM_001162498.3(LPAR6):c.707T>C (p.Ile236Thr)	LPAR6, RB1 (I236T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2287928	NM_001162498.3(LPAR6):c.697G>A (p.Val233Ile)	LPAR6, RB1 (V233I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2512462	NM_001162498.3(LPAR6):c.626A>G (p.Lys209Arg)	LPAR6, RB1 (K209R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 30780	NM_001162498.3(LPAR6):c.587C>T (p.Pro196Leu)	LPAR6, RB1 (P196L)	Single nucleotide variant (missense variant +1 more)	Hypotrichosis 8	GUncertain significance
Select item 769847	NM_000321.3(RB1):c.1695+30396A>G	LPAR6, RB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2406764	NM_001162498.3(LPAR6):c.571G>C (p.Val191Leu)	LPAR6, RB1 (V191L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1829	NM_001162498.3(LPAR6):c.565G>A (p.Glu189Lys)	LPAR6, RB1 (E189K)	Single nucleotide variant (missense variant +1 more)	Hypotrichosis 8	GPathogenic/Likely pathogenic
Select item 1827	NM_001162498.3(LPAR6):c.562A>T (p.Ile188Phe)	LPAR6, RB1 (I188F)	Single nucleotide variant (missense variant +1 more)	Hypotrichosis 8	GLikely pathogenic
Select item 2643812	NM_001162498.3(LPAR6):c.540T>C (p.Tyr180=)	LPAR6, RB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2101870	NM_001162498.3(LPAR6):c.500C>T (p.Ala167Val)	LPAR6, RB1 (A167V)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2471064	NM_001162498.3(LPAR6):c.474C>A (p.His158Gln)	LPAR6, RB1 (H158Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1824	NM_001162498.3(LPAR6):c.463C>T (p.Gln155Ter)	LPAR6, RB1 (Q155*)	Single nucleotide variant (nonsense +1 more)	Hypotrichosis 8	GLikely pathogenic
Select item 1879257	NM_001162498.3(LPAR6):c.456T>G (p.Val152=)	LPAR6, RB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2157214	NM_001162498.3(LPAR6):c.451G>A (p.Ala151Thr)	LPAR6, RB1 (A151T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1828	NM_001162498.3(LPAR6):c.436G>A (p.Gly146Arg)	LPAR6, RB1 (G146R)	Single nucleotide variant (missense variant +1 more)	Hypotrichosis 8	GLikely pathogenic
Select item 2402771	NM_001162498.3(LPAR6):c.402G>C (p.Lys134Asn)	LPAR6, RB1 (K134N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2896091	NM_001162498.3(LPAR6):c.370_375del (p.Ser124_Lys125del)	LPAR6, RB1	Deletion (inframe_deletion +1 more)	not provided	GLikely benign
Select item 592094	NM_001162498.3(LPAR6):c.373_374del (p.Lys125fs)	LPAR6, RB1 (K125fs)	Deletion (frameshift variant +1 more)	Hypotrichosis 8	GLikely pathogenic
Select item 802972	NM_000321.3(RB1):c.1695+30611_1695+30612del	LPAR6, RB1 (K123fs)	Deletion (frameshift variant +1 more)	Retinoblastoma	GLikely benign
Select item 802973	NM_000321.3(RB1):c.1695+30614_1695+30615insTTTTTTTT	LPAR6, RB1 (S124fs)	Insertion (frameshift variant +1 more)	Retinoblastoma	GUncertain significance
Select item 802974	NM_000321.3(RB1):c.1695+30615A>T	LPAR6, RB1 (F122L)	Single nucleotide variant (missense variant +1 more)	Retinoblastoma	GBenign
Select item 802975	NM_001162498.3(LPAR6):c.361_362insGTAT (p.Pro121fs)	LPAR6, RB1 (P121fs)	Insertion (frameshift variant +1 more)	Retinoblastoma	GBenign
Select item 802976	NM_001162498.3(LPAR6):c.359del (p.Tyr120fs)	LPAR6, RB1 (Y120fs)	Deletion (frameshift variant +1 more)	Retinoblastoma	GBenign
Select item 802977	NM_001162498.3(LPAR6):c.358T>G (p.Tyr120Asp)	LPAR6, RB1 (Y120D)	Single nucleotide variant (missense variant +1 more)	Retinoblastoma	GBenign
Select item 802978	NM_001162498.3(LPAR6):c.354T>G (p.Ile118Met)	LPAR6, RB1 (I118M)	Single nucleotide variant (missense variant +1 more)	Retinoblastoma	GBenign
Select item 2318482	NM_001162498.3(LPAR6):c.353T>G (p.Ile118Ser)	LPAR6, RB1 (I118S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 802979	NM_001162498.3(LPAR6):c.350_352del (p.Ala117_Ile118delinsVal)	LPAR6, RB1	Deletion (inframe_indel +1 more)	Retinoblastoma	GBenign
Select item 802980	NM_001162498.3(LPAR6):c.347del (p.Leu116fs)	LPAR6, RB1 (L116fs)	Deletion (frameshift variant +1 more)	Retinoblastoma	GBenign
Select item 802981	NM_001162498.3(LPAR6):c.341_344del (p.Arg114fs)	LPAR6, RB1 (R114fs)	Deletion (frameshift variant +1 more)	Retinoblastoma	GBenign
Select item 1951744	NM_001162498.3(LPAR6):c.285G>C (p.Leu95=)	LPAR6, RB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3367022	NM_001162498.3(LPAR6):c.255del (p.Asp86fs)	LPAR6, RB1 (D86fs)	Deletion (frameshift variant +1 more)	Hypotrichosis 8	GLikely pathogenic
Select item 3234310	NM_001162498.3(LPAR6):c.239G>A (p.Arg80Gln)	LPAR6, RB1 (R80Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1917028	NM_001162498.3(LPAR6):c.238C>T (p.Arg80Trp)	LPAR6, RB1 (R80W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1802233	NM_001162498.3(LPAR6):c.207_210dup (p.Pro71fs)	LPAR6, RB1 (P71fs)	Duplication (frameshift variant +1 more)	Hypotrichosis 8	GPathogenic
Select item 217499	NM_001162498.3(LPAR6):c.188A>T (p.Asp63Val)	LPAR6, RB1 (D63V)	Single nucleotide variant (missense variant +1 more)	Hypotrichosis 8	GLikely pathogenic
Select item 791427	NM_001162498.3(LPAR6):c.174C>T (p.Asn58=)	LPAR6, RB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2506997	NM_001162498.3(LPAR6):c.145C>T (p.Arg49Ter)	LPAR6, RB1 (R49*)	Single nucleotide variant (nonsense +1 more)	Hypotrichosis 8	GPathogenic
Select item 3016007	NM_001162498.3(LPAR6):c.132C>T (p.Cys44=)	LPAR6, RB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3119724	NM_001162498.3(LPAR6):c.116T>C (p.Ile39Thr)	LPAR6, RB1 (I39T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1699007	NM_001162498.3(LPAR6):c.107G>A (p.Cys36Tyr)	LPAR6, RB1 (C36Y)	Single nucleotide variant (missense variant +1 more)	Hypotrichosis 8	GUncertain significance
Select item 2282236	NM_001162498.3(LPAR6):c.104A>G (p.Asn35Ser)	LPAR6, RB1 (N35S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2207808	NM_001162498.3(LPAR6):c.83T>C (p.Phe28Ser)	LPAR6, RB1 (F28S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1323245	NM_000321.3(RB1):c.1695+30914_1695+30917dup	LPAR6, RB1 (F24fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 3119726	NM_001162498.3(LPAR6):c.49T>C (p.Tyr17His)	LPAR6, RB1 (Y17H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2353884	NM_001162498.3(LPAR6):c.31T>C (p.Tyr11His)	LPAR6, RB1 (Y11H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2505339	NM_001162498.3(LPAR6):c.8G>C (p.Ser3Thr)	LPAR6, RB1 (S3T)	Single nucleotide variant (missense variant +1 more)	Hypotrichosis 8	GUncertain significance
Select item 1685927	NM_001162498.3(LPAR6):c.1A>G (p.Met1Val)	LPAR6, RB1 (M1V)	Single nucleotide variant (missense variant +2 more)	Hypotrichosis 8	GPathogenic
Select item 1231305	NM_001162498.3(LPAR6):c.-473T>C	LPAR6, RB1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1879258	NM_000321.3(RB1):c.1695+34353G>A	LPAR6, RB1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign

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