PAFAH1B1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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
Select item 1643069	NM_000430.4(PAFAH1B1):c.123A>G (p.Glu41=)	PAFAH1B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2833830	NM_000430.4(PAFAH1B1):c.124G>A (p.Glu42Lys)	PAFAH1B1 (E42K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2198863	NM_000430.4(PAFAH1B1):c.126A>G (p.Glu42=)	PAFAH1B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 159505	NM_000430.4(PAFAH1B1):c.136_137del (p.Lys46fs)	PAFAH1B1 (K46fs)	Deletion (frameshift variant)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 2874069	NM_000430.4(PAFAH1B1):c.135A>G (p.Lys45=)	PAFAH1B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 982585	NM_000430.4(PAFAH1B1):c.140A>G (p.Tyr47Cys)	PAFAH1B1 (Y47C)	Single nucleotide variant (missense variant)	Lissencephaly due to LIS1 mutation	GUncertain significance
Select item 2502363	NM_000430.4(PAFAH1B1):c.144dup (p.Gly49fs)	PAFAH1B1 (G49fs)	Duplication (frameshift variant)	Lissencephaly due to LIS1 mutation	GLikely pathogenic
Select item 159506	NM_000430.4(PAFAH1B1):c.152del (p.Leu51fs)	PAFAH1B1 (L51fs)	Deletion (frameshift variant)	Lissencephaly due to LIS1 mutation +1 more	GPathogenic
Select item 996617	NM_000430.4(PAFAH1B1):c.154dup (p.Glu52fs)	PAFAH1B1 (E52fs)	Duplication (frameshift variant)	Lissencephaly	GLikely pathogenic
Select item 2004998	NM_000430.4(PAFAH1B1):c.154del (p.Glu52fs)	PAFAH1B1 (E52fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 21181	NM_000430.4(PAFAH1B1):c.162dup (p.Trp55fs)	PAFAH1B1 (W55fs)	Duplication (frameshift variant)	not provided +3 more	GPathogenic
Select item 1418117	NM_000430.4(PAFAH1B1):c.155A>G (p.Glu52Gly)	PAFAH1B1 (E52G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 21180	NM_000430.4(PAFAH1B1):c.162del (p.Lys54fs)	PAFAH1B1 (K54fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 159507	NM_000430.4(PAFAH1B1):c.163T>A (p.Trp55Arg)	PAFAH1B1 (W55R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1338599	NM_000430.4(PAFAH1B1):c.164G>A (p.Trp55Ter)	PAFAH1B1 (W55*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1454845	NM_000430.4(PAFAH1B1):c.171T>G (p.Ser57=)	PAFAH1B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1381256	NM_000430.4(PAFAH1B1):c.176T>C (p.Ile59Thr)	PAFAH1B1 (I59T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 559651	NM_000430.4(PAFAH1B1):c.177del (p.Arg60fs)	PAFAH1B1 (R60fs)	Deletion (frameshift variant)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 1633277	NM_000430.4(PAFAH1B1):c.177T>A (p.Ile59=)	PAFAH1B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2851265	NM_000430.4(PAFAH1B1):c.178A>T (p.Arg60Ter)	PAFAH1B1 (R60*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 211820	NM_000430.4(PAFAH1B1):c.190_192+5dup	PAFAH1B1	Duplication (splice donor variant)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 159511	NM_000430.4(PAFAH1B1):c.192G>C (p.Lys64Asn)	PAFAH1B1 (K64N)	Single nucleotide variant (missense variant)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 159510	NM_000430.4(PAFAH1B1):c.192+1G>T	PAFAH1B1	Single nucleotide variant (splice donor variant)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 159509	NM_000430.4(PAFAH1B1):c.192+1G>A	PAFAH1B1	Single nucleotide variant (splice donor variant)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 2126079	NM_000430.4(PAFAH1B1):c.192+7_192+10del	PAFAH1B1	Deletion (intron variant)	not provided	GLikely benign
Select item 2748420	NM_000430.4(PAFAH1B1):c.192+7A>G	PAFAH1B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1581530	NM_000430.4(PAFAH1B1):c.192+10T>C	PAFAH1B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 159508	NM_000430.4(PAFAH1B1):c.192+15T>C	PAFAH1B1	Single nucleotide variant (intron variant)	Lissencephaly due to LIS1 mutation +1 more	GConflicting classifications of pathogenicity
Select item 256110	NM_000430.4(PAFAH1B1):c.192+43T>C	PAFAH1B1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 256111	NM_000430.4(PAFAH1B1):c.192+49C>T	PAFAH1B1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1230563	NM_000430.4(PAFAH1B1):c.192+174T>C	PAFAH1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1665549	NM_000430.4(PAFAH1B1):c.193-16C>T	PAFAH1B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2021781	NM_000430.4(PAFAH1B1):c.193-14T>C	PAFAH1B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013193	NM_000430.4(PAFAH1B1):c.193-13G>A	PAFAH1B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2039141	NM_000430.4(PAFAH1B1):c.193-7T>C	PAFAH1B1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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