5048[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 617

<< First< Prev

Page of 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154232	GRCh38/hg38 17p13.3(chr17:150732-3242868)x1	ABR, ABR-AS1 +224 more	Copy number loss	See cases	GPathogenic
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 154373	GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1	ABR, ABR-AS1 +303 more	Copy number loss	See cases	GPathogenic
Select item 145643	GRCh38/hg38 17p13.3(chr17:198748-2685361)x1	LOC130059962, LOC130059963 +197 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 57265	GRCh38/hg38 17p13.3(chr17:198748-3102332)x1	ABR, ABR-AS1 +217 more	Copy number loss	See cases	GPathogenic
Select item 146594	GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1	LOC130059869, LOC130059870 +243 more	Copy number loss	See cases	GPathogenic
Select item 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	LOC130059930, LOC130059931 +352 more	Copy number loss	See cases	GPathogenic
Select item 58671	GRCh38/hg38 17p13.3(chr17:1287199-3154232)x3	INPP5K, CCDC92B +164 more	Copy number gain	See cases	GPathogenic
Select item 148529	GRCh38/hg38 17p13.3-13.2(chr17:1348488-3513273)x3	LOC130059937, LOC130059938 +174 more	Copy number gain	See cases	GLikely pathogenic
Select item 149147	GRCh38/hg38 17p13.3(chr17:1742705-2952264)x1	CCDC92B, CLUH +122 more	Copy number loss	See cases	GPathogenic
Select item 149261	GRCh38/hg38 17p13.3(chr17:2012699-2644858)x1	DPH1, HIC1 +94 more	Copy number loss	See cases	GPathogenic
Select item 144239	GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1	CAMKK1, CAMTA2 +303 more	Copy number loss	See cases	GPathogenic
Select item 150948	GRCh38/hg38 17p13.3-13.2(chr17:2062429-4141883)x3	ASPA, ATP2A3 +166 more	Copy number gain	See cases	GPathogenic
Select item 147865	GRCh38/hg38 17p13.3(chr17:2254635-2699329)x3	CLUH, LOC105371490 +38 more	Copy number gain	See cases	GUncertain significance
Select item 151248	GRCh38/hg38 17p13.3(chr17:2298292-2728190)x1	CCDC92B, CLUH +38 more	Copy number loss	See cases	GPathogenic
Select item 58677	GRCh38/hg38 17p13.3-13.2(chr17:2357067-4328426)x3	ANKFY1, ASPA +126 more	Copy number gain	See cases	GPathogenic
Select item 154132	GRCh38/hg38 17p13.3(chr17:2403263-2960737)x3	CCDC92B, CLUH +24 more	Copy number gain	See cases	GLikely pathogenic
Select item 145988	GRCh38/hg38 17p13.3(chr17:2414781-2722552)x3	CCDC92B, CLUH +17 more	Copy number gain	See cases	GPathogenic
Select item 146006	GRCh38/hg38 17p13.3(chr17:2436267-2685302)x3	LOC125177406, LOC129390821 +9 more	Copy number gain	See cases	GPathogenic
Select item 60097	GRCh38/hg38 17p13.3(chr17:2452259-2691244)x3	CLUH, LOC105371490 +11 more	Copy number gain	See cases	GUncertain significance
Select item 148496	GRCh38/hg38 17p13.3(chr17:2473511-2594380)x3	LOC129390821, LOC130059960 +7 more	Copy number gain	See cases	GUncertain significance
Select item 60098	GRCh38/hg38 17p13.3(chr17:2490435-2638867)x3	LOC125177406, LOC129390821 +8 more	Copy number gain	See cases	GUncertain significance
Select item 3024373	GRCh38/hg38 17p13.3(chr17:2500691-2687314)	LOC125177406, LOC129390821 +7 more	Copy number gain	Autism spectrum disorder	GLikely pathogenic
Select item 59562	GRCh38/hg38 17p13.3-13.2(chr17:2527510-3467165)x1	CCDC92B, CLUH +36 more	Copy number loss	See cases	GPathogenic
Select item 146397	GRCh38/hg38 17p13.3(chr17:2581219-2767565)x1	CCDC92B, CLUH +13 more	Copy number loss	See cases	GPathogenic
Select item 148924	GRCh38/hg38 17p13.3(chr17:2592886-2609006)x1	LOC125177406, LOC130059964 +3 more	Copy number loss	See cases	GPathogenic
Select item 1321740	NC_000017.11:g.2593327C>T	PAFAH1B1	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1239981	NC_000017.11:g.2593443C>T	PAFAH1B1	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 322244	NM_000430.4(PAFAH1B1):c.-534_-529dup	PAFAH1B1	Duplication (5 prime UTR variant)	Lissencephaly/Subcortical Band Heterotopia	GBenign
Select item 322248	NM_000430.4(PAFAH1B1):c.-440_-438del	LOC130059964, PAFAH1B1	Deletion (5 prime UTR variant)	Lissencephaly/Subcortical Band Heterotopia	GUncertain significance
Select item 322249	NM_000430.4(PAFAH1B1):c.-331GGGCCC[3]	LOC130059964, PAFAH1B1	Microsatellite (5 prime UTR variant)	Lissencephaly/Subcortical Band Heterotopia	GUncertain significance
Select item 1301273	NM_000430.4(PAFAH1B1):c.-191+1431_-191+1432insTTCTT	PAFAH1B1	Microsatellite (intron variant)	not provided	GBenign
Select item 1233436	NM_000430.4(PAFAH1B1):c.-191+1560A>G	PAFAH1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326006	NM_000430.4(PAFAH1B1):c.-191+1593G>T	PAFAH1B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183503	NM_000430.4(PAFAH1B1):c.-191+3737TC[2]	PAFAH1B1	Microsatellite (intron variant)	not provided	GBenign
Select item 1294915	NM_000430.4(PAFAH1B1):c.-191+3776GT[10]	PAFAH1B1	Microsatellite (intron variant)	not provided	GBenign
Select item 1342740	NM_000430.4(PAFAH1B1):c.-191+3794_-191+3795del	PAFAH1B1	Deletion (intron variant)	not provided	GLikely benign
Select item 1684127	NM_000430.4(PAFAH1B1):c.-191+4048A>G	PAFAH1B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 147515	GRCh38/hg38 17p13.3(chr17:2599570-2624929)x3	PAFAH1B1	Copy number gain	See cases	GConflicting classifications of pathogenicity
Select item 154765	GRCh38/hg38 17p13.3(chr17:2599583-2624994)x3	PAFAH1B1	Copy number gain	See cases	GLikely benign
Select item 2647218	NM_000430.4(PAFAH1B1):c.-191+19285C>G	PAFAH1B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2647219	NM_000430.4(PAFAH1B1):c.-191+19512G>T	PAFAH1B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2647220	NM_000430.4(PAFAH1B1):c.-191+19575G>A	PAFAH1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2647221	NM_000430.4(PAFAH1B1):c.-191+19673_-191+19676dup	PAFAH1B1	Duplication (intron variant)	not provided	GBenign
Select item 2647222	NM_000430.4(PAFAH1B1):c.-191+19837G>T	PAFAH1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1696672	NM_000430.4(PAFAH1B1):c.-190-8934C>G	PAFAH1B1	Single nucleotide variant (intron variant)	Lissencephaly due to LIS1 mutation	GUncertain significance
Select item 1187035	NM_000430.4(PAFAH1B1):c.-190-251A>G	PAFAH1B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 322257	NM_000430.4(PAFAH1B1):c.-176del	PAFAH1B1	Deletion (5 prime UTR variant)	Lissencephaly/Subcortical Band Heterotopia	GUncertain significance
Select item 495279	NC_000017.11:g.(?_2638238)_(2638345_?)del	PAFAH1B1	Deletion	Lissencephaly due to LIS1 mutation	GLikely pathogenic
Select item 159520	NM_000430.4(PAFAH1B1):c.3G>A (p.Met1Ile)	PAFAH1B1 (M1I)	Single nucleotide variant (missense variant +1 more)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 996616	NM_000430.4(PAFAH1B1):c.19C>T (p.Gln7Ter)	PAFAH1B1 (Q7*)	Single nucleotide variant (nonsense)	Lissencephaly	GLikely pathogenic
Select item 2018812	NM_000430.4(PAFAH1B1):c.21A>G (p.Gln7=)	PAFAH1B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 8081	NM_000430.4(PAFAH1B1):c.22C>T (p.Arg8Ter)	PAFAH1B1 (R8*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1994846	NM_000430.4(PAFAH1B1):c.32+2dup	PAFAH1B1	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 2909985	NM_000430.4(PAFAH1B1):c.32+9_32+12del	PAFAH1B1	Deletion (intron variant)	not provided	GLikely benign
Select item 3050319	NM_000430.4(PAFAH1B1):c.32+8T>G	PAFAH1B1	Single nucleotide variant (intron variant)	PAFAH1B1-related disorder	GLikely benign
Select item 2647223	NM_000430.4(PAFAH1B1):c.33-2577G>C	PAFAH1B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1298132	NM_000430.4(PAFAH1B1):c.33-181_33-180del	PAFAH1B1	Deletion (intron variant)	not provided	GBenign
Select item 1207115	NM_000430.4(PAFAH1B1):c.33-74T>C	PAFAH1B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1585452	NM_000430.4(PAFAH1B1):c.33-14A>G	PAFAH1B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 436143	NM_000430.4(PAFAH1B1):c.33-8_33-7delinsAG	PAFAH1B1	Indel (intron variant)	not specified	GUncertain significance
Select item 211822	NM_000430.4(PAFAH1B1):c.33-3C>G	PAFAH1B1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 159514	NM_000430.4(PAFAH1B1):c.33-3C>T	PAFAH1B1	Single nucleotide variant (intron variant)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 382036	NM_000430.4(PAFAH1B1):c.33-1G>C	PAFAH1B1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 159516	NM_000430.4(PAFAH1B1):c.37C>T (p.Arg13Ter)	PAFAH1B1 (R13*)	Single nucleotide variant (nonsense)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 92997	NM_000430.4(PAFAH1B1):c.38G>A (p.Arg13Gln)	PAFAH1B1 (R13Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1390489	NM_000430.4(PAFAH1B1):c.43A>G (p.Ile15Val)	PAFAH1B1 (I15V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1375916	NM_000430.4(PAFAH1B1):c.51T>C (p.Asp17=)	PAFAH1B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 159529	NM_000430.4(PAFAH1B1):c.56T>G (p.Leu19Arg)	PAFAH1B1 (L19R)	Single nucleotide variant (missense variant)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 436135	NM_000430.4(PAFAH1B1):c.58C>A (p.Arg20Ser)	PAFAH1B1 (R20S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1443972	NM_000430.4(PAFAH1B1):c.59G>A (p.Arg20His)	PAFAH1B1 (R20H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 620336	NM_000430.4(PAFAH1B1):c.62C>G (p.Ser21Ter)	PAFAH1B1 (S21*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 211830	NM_000430.4(PAFAH1B1):c.71_72dup (p.Glu25fs)	PAFAH1B1 (E25fs)	Duplication (frameshift variant)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 159543	NM_000430.4(PAFAH1B1):c.72T>G (p.Tyr24Ter)	PAFAH1B1 (Y24*)	Single nucleotide variant (nonsense)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 1596214	NM_000430.4(PAFAH1B1):c.75A>G (p.Glu25=)	PAFAH1B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 159547	NM_000430.4(PAFAH1B1):c.84T>G (p.Tyr28Ter)	PAFAH1B1 (Y28*)	Single nucleotide variant (nonsense)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 8078	NM_000430.4(PAFAH1B1):c.92T>C (p.Phe31Ser)	PAFAH1B1 (F31S)	Single nucleotide variant (missense variant)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 1719796	NM_000430.4(PAFAH1B1):c.95A>G (p.Lys32Arg)	PAFAH1B1 (K32R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1999317	NM_000430.4(PAFAH1B1):c.105T>C (p.Ala35=)	PAFAH1B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997595	NM_000430.4(PAFAH1B1):c.111A>C (p.Leu37Phe)	PAFAH1B1 (L37F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 196271	NM_000430.4(PAFAH1B1):c.112G>A (p.Asp38Asn)	PAFAH1B1 (D38N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1373706	NM_000430.4(PAFAH1B1):c.116_117+2dup	PAFAH1B1	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 423104	NM_000430.4(PAFAH1B1):c.117_117+2del	PAFAH1B1	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 2430298	NM_000430.4(PAFAH1B1):c.116T>C (p.Val39Ala)	PAFAH1B1 (V39A)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1214157	NM_000430.4(PAFAH1B1):c.117+1G>C	PAFAH1B1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2434567	NM_000430.4(PAFAH1B1):c.117+3A>G	PAFAH1B1	Single nucleotide variant (intron variant)	Lissencephaly due to LIS1 mutation	GUncertain significance
Select item 546420	NM_000430.4(PAFAH1B1):c.117+5G>C	PAFAH1B1	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 1589992	NM_000430.4(PAFAH1B1):c.117+8T>C	PAFAH1B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1651405	NM_000430.4(PAFAH1B1):c.117+17A>G	PAFAH1B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1671553	NM_000430.4(PAFAH1B1):c.117+18C>T	PAFAH1B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 545514	NM_000430.4(PAFAH1B1):c.118-11_118-7del	PAFAH1B1	Deletion (intron variant)	Lissencephaly due to LIS1 mutation	GUncertain significance
Select item 256109	NM_000430.4(PAFAH1B1):c.118-14T>C	PAFAH1B1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 159503	NM_000430.4(PAFAH1B1):c.121G>A (p.Glu41Lys)	PAFAH1B1 (E41K)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic

<< First< Prev

Page of 7