OSBPL6[gene] - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 155530	GRCh38/hg38 2q31.1-31.3(chr2:174236451-181188846)x1	AGPS, ATF2 +224 more	Copy number loss	See cases	GPathogenic
Select item 147705	GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1	AGPS, ATF2 +307 more	Copy number loss	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	ANKAR, ASDURF +312 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 221693	GRCh38/hg38 2q31.2(chr2:178207099-178324259)x1	LOC122861256, OSBPL6	Copy number loss	Premature ovarian failure	GBenign
Select item 2557449	NM_032523.4(OSBPL6):c.19G>A (p.Gly7Ser)	OSBPL6 (G7S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303571	NM_032523.4(OSBPL6):c.20G>T (p.Gly7Val)	OSBPL6 (G7V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554581	NM_032523.4(OSBPL6):c.134C>T (p.Ser45Phe)	OSBPL6 (S45F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297575	NM_032523.4(OSBPL6):c.142G>A (p.Glu48Lys)	OSBPL6 (E48K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270000	NM_032523.4(OSBPL6):c.301T>G (p.Leu101Val)	OSBPL6 (L101V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222239	NM_032523.4(OSBPL6):c.439G>A (p.Ala147Thr)	OSBPL6 (A126T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651573	NM_032523.4(OSBPL6):c.540G>A (p.Arg180=)	OSBPL6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2384535	NM_032523.4(OSBPL6):c.594A>G (p.Ile198Met)	OSBPL6 (I177M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601103	NM_032523.4(OSBPL6):c.604A>G (p.Thr202Ala)	OSBPL6 (T202A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207094	NM_032523.4(OSBPL6):c.707G>A (p.Ser236Asn)	OSBPL6 (S236N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303573	NM_032523.4(OSBPL6):c.779G>A (p.Arg260Lys)	OSBPL6 (R260K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544411	NM_032523.4(OSBPL6):c.797C>A (p.Ala266Glu)	OSBPL6 (A245E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350084	NM_032523.4(OSBPL6):c.797C>T (p.Ala266Val)	OSBPL6 (A245V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365429	NM_032523.4(OSBPL6):c.928C>T (p.Arg310Trp)	OSBPL6 (R289W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353708	NM_032523.4(OSBPL6):c.929G>C (p.Arg310Pro)	OSBPL6 (R289P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281238	NM_032523.4(OSBPL6):c.929G>T (p.Arg310Leu)	OSBPL6 (R289L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247935	NM_032523.4(OSBPL6):c.931G>T (p.Val311Phe)	OSBPL6 (V290F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368879	NM_032523.4(OSBPL6):c.987+4535C>T	OSBPL6 (A334V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2612904	NM_032523.4(OSBPL6):c.987+4545G>T	OSBPL6 (Q316H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363180	NM_032523.4(OSBPL6):c.987+4577C>T	OSBPL6 (A327V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303574	NM_032523.4(OSBPL6):c.1041C>A (p.Asn347Lys)	OSBPL6 (N351K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261994	NM_032523.4(OSBPL6):c.1144G>C (p.Ala382Pro)	OSBPL6 (A351P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303572	NM_032523.4(OSBPL6):c.1225G>A (p.Glu409Lys)	OSBPL6 (E434K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523519	NM_032523.4(OSBPL6):c.1249A>G (p.Ser417Gly)	OSBPL6 (S417G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207086	NM_032523.4(OSBPL6):c.1253C>T (p.Thr418Met)	OSBPL6 (T443M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207087	NM_032523.4(OSBPL6):c.1333C>T (p.His445Tyr)	OSBPL6 (H445Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332478	NM_032523.4(OSBPL6):c.1411C>T (p.His471Tyr)	OSBPL6 (H475Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551001	NM_032523.4(OSBPL6):c.1442C>G (p.Ala481Gly)	OSBPL6 (A450G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490971	NM_032523.4(OSBPL6):c.1535C>G (p.Ala512Gly)	OSBPL6 (A476G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207088	NM_032523.4(OSBPL6):c.1555A>C (p.Ile519Leu)	OSBPL6 (I488L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372223	NM_032523.4(OSBPL6):c.1613C>T (p.Ser538Phe)	OSBPL6 (S502F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293352	NM_032523.4(OSBPL6):c.1615C>T (p.Arg539Trp)	OSBPL6 (R503W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370145	NM_032523.4(OSBPL6):c.1616G>A (p.Arg539Gln)	OSBPL6 (R503Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613669	NM_032523.4(OSBPL6):c.1729A>G (p.Asn577Asp)	OSBPL6 (N541D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315302	NM_032523.4(OSBPL6):c.1753A>G (p.Lys585Glu)	OSBPL6 (K585E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207089	NM_032523.4(OSBPL6):c.1828G>A (p.Glu610Lys)	OSBPL6 (E579K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284790	NM_032523.4(OSBPL6):c.1864T>C (p.Tyr622His)	OSBPL6 (Y622H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476238	NM_032523.4(OSBPL6):c.1873A>G (p.Met625Val)	OSBPL6 (M625V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620243	NM_032523.4(OSBPL6):c.1940C>T (p.Pro647Leu)	OSBPL6 (P611L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303576	NM_032523.4(OSBPL6):c.1984G>A (p.Asp662Asn)	OSBPL6 (D626N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597811	NM_032523.4(OSBPL6):c.1996C>T (p.Arg666Cys)	OSBPL6 (R635C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532797	NM_032523.4(OSBPL6):c.2152C>T (p.Pro718Ser)	OSBPL6 (P743S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290489	NM_032523.4(OSBPL6):c.2157G>C (p.Lys719Asn)	OSBPL6 (K683N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651574	NM_032523.4(OSBPL6):c.2302-4C>T	OSBPL6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3207090	NM_032523.4(OSBPL6):c.2380T>A (p.Phe794Ile)	OSBPL6 (F763I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548797	NM_032523.4(OSBPL6):c.2498T>C (p.Ile833Thr)	OSBPL6 (I833T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303575	NM_032523.4(OSBPL6):c.2594T>C (p.Leu865Ser)	OSBPL6 (L865S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207091	NM_032523.4(OSBPL6):c.2656A>G (p.Met886Val)	OSBPL6 (M850V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207092	NM_032523.4(OSBPL6):c.2683C>A (p.Pro895Thr)	OSBPL6 (P859T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594328	NM_032523.4(OSBPL6):c.2743A>G (p.Thr915Ala)	OSBPL6 (T884A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521574	NM_032523.4(OSBPL6):c.2791C>T (p.Pro931Ser)	OSBPL6 (P956S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247478	NC_000002.11:g.(?_178257518)_(179914668_?)del	AGPS, CCDC141 +10 more	Deletion	not provided	GPathogenic
Select item 3062660	GRCh37/hg19 2q31.2(chr2:179257725-180232128)x3	CCDC141, FKBP7 +6 more	Copy number gain	not specified	GUncertain significance
Select item 2425519	NC_000002.11:g.(?_178095513)_(179914668_?)dup	AGPS, CCDC141 +11 more	Duplication	not provided	GUncertain significance
Select item 2424718	NC_000002.11:g.(?_178095513)_(179914668_?)del	AGPS, CCDC141 +11 more	Deletion	not provided	GUncertain significance
Select item 1808725	GRCh37/hg19 2q31.1-31.3(chr2:175143352-180999636)x1	AGPS, ATF2 +38 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1047877	GRCh37/hg19 2q31.1-31.3(chr2:171999572-182774361)	PJVK, RBM45 +60 more	Copy number loss	3-4 finger osseus syndactyly +1 more	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 981210	GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1	ABCB11, AGPS +97 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 979386	GRCh37/hg19 2q31.1-31.2(chr2:177542722-179538238)x3	TTC30A, TTC30B +11 more	Copy number gain	not provided	GUncertain significance
Select item 814347	GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1	AGPS, ANKAR +86 more	Copy number loss	not provided	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 688324	GRCh37/hg19 2q31.1-31.2(chr2:176310551-179092634)x1	AGPS, EVX2 +19 more	Copy number loss	not provided	GPathogenic
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 685829	GRCh37/hg19 2q31.1-32.1(chr2:173538954-186401606)x1	AGPS, ATF2 +56 more	Copy number loss	not provided	GPathogenic
Select item 562627	GRCh37/hg19 2q31.2(chr2:178546905-179656720)x3	OSBPL6, FKBP7 +6 more	Copy number gain	not provided	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic
Select item 252975	GRCh37/hg19 2q31.1-32.3(chr2:177315153-196375520)x1	AGPS, ANKAR +62 more	Copy number loss	See cases	GPathogenic

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Items: 83