15761[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066240, LOC130066241 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	ABHD16B, ADRM1 +491 more	Copy number gain	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066376, LOC130066377 +464 more	Copy number gain	See cases	GPathogenic
Select item 146530	GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	ABHD16B, ADRM1 +355 more	Copy number gain	See cases	GPathogenic
Select item 150212	GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3	ABHD16B, ADRM1 +312 more	Copy number gain	See cases	GPathogenic
Select item 148773	GRCh38/hg38 20q13.33(chr20:61588953-62241744)x3	CDH4, HRH3 +30 more	Copy number gain	See cases	GUncertain significance
Select item 1707464	Single allele	ADRM1, ARFGAP1 +198 more	Duplication	not specified	GUncertain significance
Select item 1301807	NM_144498.4(OSBPL2):c.-129+12C>T	LOC130066299, OSBPL2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1349369	NM_144498.4(OSBPL2):c.5A>G (p.Asn2Ser)	OSBPL2 (N2S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 517582	NM_144498.4(OSBPL2):c.30C>T (p.Ala10=)	OSBPL2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3053839	NM_144498.4(OSBPL2):c.37+9_37+13del	OSBPL2	Deletion (intron variant)	OSBPL2-related disorder	GLikely benign
Select item 1290984	NM_144498.4(OSBPL2):c.37+23G>A	OSBPL2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1218408	NM_144498.4(OSBPL2):c.37+102C>G	OSBPL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296854	NM_144498.4(OSBPL2):c.37+152C>A	OSBPL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259404	NM_144498.4(OSBPL2):c.38-227_38-209del	OSBPL2	Deletion (intron variant)	not provided	GBenign
Select item 508599	NM_144498.4(OSBPL2):c.38-6G>A	OSBPL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3207054	NM_144498.4(OSBPL2):c.45T>A (p.Asp15Glu)	OSBPL2 (D15E)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2442703	NM_144498.4(OSBPL2):c.58T>C (p.Ser20Pro)	OSBPL2 (S20P)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2707660	NM_144498.4(OSBPL2):c.66A>G (p.Glu22=)	OSBPL2	Single nucleotide variant (intron variant +2 more)	not provided	GLikely benign
Select item 667053	NM_144498.4(OSBPL2):c.76G>A (p.Ala26Thr)	OSBPL2 (A26T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GBenign
Select item 2404093	NM_144498.4(OSBPL2):c.100A>G (p.Ile34Val)	OSBPL2 (I22V +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2269867	NM_144498.4(OSBPL2):c.101T>C (p.Ile34Thr)	OSBPL2 (I22T +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2114261	NM_144498.4(OSBPL2):c.124A>C (p.Asn42His)	OSBPL2 (N42H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1299987	NM_144498.4(OSBPL2):c.128G>T (p.Arg43Met)	OSBPL2 (R31M +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 190111	NM_144498.4(OSBPL2):c.141_142del (p.Arg50fs)	OSBPL2 (R50fs +1 more)	Deletion (5 prime UTR variant +2 more)	Autosomal dominant nonsyndromic hearing loss 67	GPathogenic
Select item 2494673	NM_144498.4(OSBPL2):c.151C>T (p.Pro51Ser)	OSBPL2 (P51S +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 190110	NM_144498.4(OSBPL2):c.156_157del (p.Gln53fs)	OSBPL2 (Q41fs +1 more)	Microsatellite (5 prime UTR variant +2 more)	Autosomal dominant nonsyndromic hearing loss 67	GPathogenic
Select item 987443	NM_144498.4(OSBPL2):c.158_159del (p.Gln53fs)	OSBPL2 (Q41fs +1 more)	Deletion (5 prime UTR variant +2 more)	Autosomal dominant nonsyndromic hearing loss 67 +1 more	GPathogenic
Select item 956110	NM_144498.4(OSBPL2):c.158A>G (p.Gln53Arg)	OSBPL2 (Q41R +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2442596	NM_144498.4(OSBPL2):c.162G>C (p.Glu54Asp)	OSBPL2 (E42D +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 977817	NM_144498.4(OSBPL2):c.180_181del (p.His60fs)	OSBPL2 (H48fs +1 more)	Microsatellite (5 prime UTR variant +2 more)	Autosomal dominant nonsyndromic hearing loss 67	GPathogenic
Select item 1531883	NM_144498.4(OSBPL2):c.182+8C>G	OSBPL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900793	NM_144498.4(OSBPL2):c.182+15G>A	OSBPL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230449	NM_144498.4(OSBPL2):c.182+205G>C	OSBPL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208799	NM_144498.4(OSBPL2):c.182+261C>T	OSBPL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246239	NM_144498.4(OSBPL2):c.182+311T>A	OSBPL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182382	NM_144498.4(OSBPL2):c.183-239G>A	OSBPL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187040	NM_144498.4(OSBPL2):c.183-150C>T	OSBPL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1917229	NM_144498.4(OSBPL2):c.183-31_183-13del	OSBPL2	Deletion (intron variant)	not provided	GLikely benign
Select item 1918291	NM_144498.4(OSBPL2):c.183-12T>G	OSBPL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2756104	NM_144498.4(OSBPL2):c.183-4G>C	OSBPL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2618286	NM_144498.4(OSBPL2):c.185C>T (p.Thr62Ile)	OSBPL2 (T50I +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 764353	NM_144498.4(OSBPL2):c.189G>A (p.Ser63=)	OSBPL2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1691678	NM_144498.4(OSBPL2):c.194C>T (p.Pro65Leu)	OSBPL2 (P53L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2892345	NM_144498.4(OSBPL2):c.195G>A (p.Pro65=)	OSBPL2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 667054	NM_144498.4(OSBPL2):c.216C>T (p.Ser72=)	OSBPL2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 680868	NM_144498.4(OSBPL2):c.225C>T (p.Ser75=)	OSBPL2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign/Likely benign
Select item 666888	NM_144498.4(OSBPL2):c.226G>A (p.Val76Met)	OSBPL2 (V76M +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 1190938	NM_144498.4(OSBPL2):c.258+9G>A	OSBPL2	Single nucleotide variant (intron variant)	OSBPL2-related disorder +1 more	GLikely benign
Select item 1208597	NM_144498.4(OSBPL2):c.258+132T>A	OSBPL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260550	NM_144498.4(OSBPL2):c.259-321G>T	OSBPL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682796	NM_144498.4(OSBPL2):c.259-95C>T	OSBPL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230232	NM_144498.4(OSBPL2):c.259-48G>A	OSBPL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1514815	NM_144498.4(OSBPL2):c.259-5T>C	OSBPL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3034816	NM_144498.4(OSBPL2):c.276G>A (p.Thr92=)	OSBPL2	Single nucleotide variant (5 prime UTR variant +1 more)	OSBPL2-related disorder	GLikely benign
Select item 2891090	NM_144498.4(OSBPL2):c.283A>G (p.Ile95Val)	OSBPL2 (I83V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3207053	NM_144498.4(OSBPL2):c.286G>A (p.Ala96Thr)	OSBPL2 (A4T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2082570	NM_144498.4(OSBPL2):c.294C>T (p.Asn98=)	OSBPL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2104208	NM_144498.4(OSBPL2):c.313C>G (p.Gln105Glu)	OSBPL2 (Q93E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1213634	NM_144498.4(OSBPL2):c.354C>T (p.His118=)	OSBPL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 805102	NM_144498.4(OSBPL2):c.366C>G (p.Cys122Trp)	OSBPL2 (C110W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2800600	NM_144498.4(OSBPL2):c.371C>T (p.Pro124Leu)	OSBPL2 (P112L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312857	NM_144498.4(OSBPL2):c.374A>C (p.Gln125Pro)	OSBPL2 (Q113P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1504899	NM_144498.4(OSBPL2):c.375G>T (p.Gln125His)	OSBPL2 (Q125H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313951	NM_144498.4(OSBPL2):c.388A>T (p.Met130Leu)	OSBPL2 (M118L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1206694	NM_144498.4(OSBPL2):c.393+44T>C	OSBPL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258995	NM_144498.4(OSBPL2):c.394-117G>T	OSBPL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210996	NM_144498.4(OSBPL2):c.394-20C>A	OSBPL2	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1925224	NM_144498.4(OSBPL2):c.394-18C>G	OSBPL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220939	NM_144498.4(OSBPL2):c.394-17C>T	OSBPL2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 667138	NM_144498.4(OSBPL2):c.429C>G (p.Ser143=)	OSBPL2	Single nucleotide variant (synonymous variant)	OSBPL2-related disorder +2 more	GLikely benign
Select item 2575601	NM_144498.4(OSBPL2):c.445G>A (p.Gly149Ser)	OSBPL2 (G137S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1187534	NM_144498.4(OSBPL2):c.491+26A>G	OSBPL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1210705	NM_144498.4(OSBPL2):c.492-302G>A	OSBPL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227213	NM_144498.4(OSBPL2):c.492-187T>A	OSBPL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287174	NM_144498.4(OSBPL2):c.492-159A>G	OSBPL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2876227	NM_144498.4(OSBPL2):c.492-10T>C	OSBPL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1314527	NM_144498.4(OSBPL2):c.518C>T (p.Ser173Leu)	OSBPL2 (S161L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1651632	NM_144498.4(OSBPL2):c.519G>A (p.Ser173=)	OSBPL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1216995	NM_144498.4(OSBPL2):c.537C>T (p.His179=)	OSBPL2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1665703	NM_144498.4(OSBPL2):c.540C>G (p.Pro180=)	OSBPL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967598	NM_144498.4(OSBPL2):c.543C>A (p.Pro181=)	OSBPL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1217597	NM_144498.4(OSBPL2):c.543C>G (p.Pro181=)	OSBPL2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2896951	NM_144498.4(OSBPL2):c.552G>A (p.Ala184=)	OSBPL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1048636	NM_144498.4(OSBPL2):c.572A>G (p.Asn191Ser)	OSBPL2 (N179S +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 67	GUncertain significance
Select item 1297539	NM_144498.4(OSBPL2):c.598A>G (p.Ile200Val)	OSBPL2 (I108V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1476234	NM_144498.4(OSBPL2):c.607A>C (p.Lys203Gln)	OSBPL2 (K203Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 512698	NM_144498.4(OSBPL2):c.609G>A (p.Lys203=)	OSBPL2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2853434	NM_144498.4(OSBPL2):c.623G>T (p.Gly208Val)	OSBPL2 (G208V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2139688	NM_144498.4(OSBPL2):c.631G>A (p.Val211Met)	OSBPL2 (V119M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1649661	NM_144498.4(OSBPL2):c.639G>A (p.Ala213=)	OSBPL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 515079	NM_144498.4(OSBPL2):c.660C>T (p.Thr220=)	OSBPL2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 667055	NM_144498.4(OSBPL2):c.661C>T (p.Leu221=)	OSBPL2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1206582	NM_144498.4(OSBPL2):c.674+9C>T	OSBPL2	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1207143	NM_144498.4(OSBPL2):c.674+15G>A	OSBPL2	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1283278	NM_144498.4(OSBPL2):c.674+268A>G	OSBPL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205132	NM_144498.4(OSBPL2):c.675-346G>A	OSBPL2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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