"GeneDx"[submitter] AND "OBSL1"[gene] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 1276422	NM_015311.3(OBSL1):c.5684-37TC[2]	OBSL1	Microsatellite (intron variant)	3M syndrome 2 +1 more	GBenign
Select item 1287989	NM_015311.3(OBSL1):c.5684-82A>G	OBSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296814	NM_015311.3(OBSL1):c.5684-153C>T	OBSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257438	NM_015311.3(OBSL1):c.5684-188G>A	OBSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234756	NM_015311.3(OBSL1):c.5684-270T>C	OBSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247466	NM_015311.3(OBSL1):c.5683+87A>G	OBSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274171	NM_015311.3(OBSL1):c.5414-50G>A	OBSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229527	NM_015311.3(OBSL1):c.5414-71G>A	OBSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261356	NM_015311.3(OBSL1):c.5413+31T>A	OBSL1	Single nucleotide variant (intron variant)	3M syndrome 2 +1 more	GBenign
Select item 194972	NM_015311.3(OBSL1):c.5309-4C>G	OBSL1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1266333	NM_015311.3(OBSL1):c.5309-29G>A	OBSL1	Single nucleotide variant (intron variant)	3M syndrome 2 +1 more	GBenign
Select item 1269748	NM_015311.3(OBSL1):c.5308+30C>A	LOC129935660, OBSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 288014	NM_015311.3(OBSL1):c.5300G>A (p.Arg1767Gln)	OBSL1 (R1767Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1302655	NM_015311.3(OBSL1):c.5086G>A (p.Gly1696Arg)	OBSL1 (G1696R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1257901	NM_015311.3(OBSL1):c.4990-165A>G	OBSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 729741	NM_015311.3(OBSL1):c.4951G>T (p.Glu1651Ter)	OBSL1 (E1651*)	Single nucleotide variant (nonsense)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1296004	NM_015311.3(OBSL1):c.4877-148G>C	OBSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2500415	NM_015311.3(OBSL1):c.4876+5G>A	OBSL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 895702	NM_015311.3(OBSL1):c.4850G>A (p.Arg1617His)	OBSL1 (R1617H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2148837	NM_015311.3(OBSL1):c.4847T>G (p.Leu1616Arg)	OBSL1 (L1616R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 334466	NM_015311.3(OBSL1):c.4836A>G (p.Thr1612=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1055632	NM_015311.3(OBSL1):c.4732_4733inv (p.Gln1578Trp)	OBSL1 (Q1578W)	Inversion (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 334469	NM_015311.3(OBSL1):c.4733A>G (p.Gln1578Arg)	OBSL1 (Q1578R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1240669	NM_015311.3(OBSL1):c.4610-91G>A	OBSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290962	NM_015311.3(OBSL1):c.4610-207C>T	OBSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269432	NM_015311.3(OBSL1):c.4610-247T>C	OBSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258582	NM_015311.3(OBSL1):c.4609+189G>A	OBSL1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 895986	NM_015311.3(OBSL1):c.4609+12G>A	OBSL1 (V1541I)	Single nucleotide variant (missense variant +1 more)	3M syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 998413	NM_015311.3(OBSL1):c.4567G>A (p.Glu1523Lys)	OBSL1 (E1523K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 334470	NM_015311.3(OBSL1):c.4566C>T (p.Cys1522=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 897586	NM_015311.3(OBSL1):c.4429G>A (p.Ala1477Thr)	OBSL1 (A1477T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 334475	NM_015311.3(OBSL1):c.4395T>C (p.Asp1465=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 418392	NM_015311.3(OBSL1):c.4069C>T (p.Pro1357Ser)	OBSL1 (P1357S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1255285	NM_015311.3(OBSL1):c.4067-34T>C	OBSL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1175474	NM_015311.3(OBSL1):c.4067-194T>C	OBSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244858	NM_015311.3(OBSL1):c.4067-241T>A	OBSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286959	NM_015311.3(OBSL1):c.4066+36C>T	OBSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 289411	NM_015311.3(OBSL1):c.3937G>A (p.Gly1313Arg)	OBSL1 (G1313R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 897648	NM_015311.3(OBSL1):c.3839G>A (p.Arg1280Gln)	OBSL1 (R1280Q)	Single nucleotide variant (missense variant)	3M syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 1286818	NM_015311.3(OBSL1):c.3791-60G>C	OBSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280577	NM_015311.3(OBSL1):c.3227-186G>A	OBSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276231	NM_015311.3(OBSL1):c.3226+243T>C	OBSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275566	NM_015311.3(OBSL1):c.3226+178G>C	OBSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1421302	NM_015311.3(OBSL1):c.3171C>T (p.Gly1057=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1312742	NM_015311.3(OBSL1):c.2989G>A (p.Val997Met)	OBSL1 (V997M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1283559	NM_015311.3(OBSL1):c.2954-268C>T	OBSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230913	NM_015311.3(OBSL1):c.2953+761G>C	OBSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259621	NM_015311.3(OBSL1):c.2953+756dup	OBSL1	Duplication (intron variant)	not provided	GBenign
Select item 1228193	NM_015311.3(OBSL1):c.2953+754G>A	OBSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 334500	NM_015311.3(OBSL1):c.2730C>A (p.Ala910=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1314165	NM_015311.3(OBSL1):c.2710G>A (p.Gly904Ser)	OBSL1 (G904S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 334503	NM_015311.3(OBSL1):c.2682C>T (p.Asp894=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1242475	NM_015311.3(OBSL1):c.2681-33del	OBSL1	Deletion (intron variant)	3M syndrome 2 +1 more	GBenign
Select item 1289077	NM_015311.3(OBSL1):c.2681-284G>A	OBSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286679	NM_015311.3(OBSL1):c.2680+81A>G	OBSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1314157	NM_015311.3(OBSL1):c.2516G>A (p.Arg839His)	OBSL1 (R839H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1226510	NM_015311.3(OBSL1):c.2408-32T>A	OBSL1	Single nucleotide variant (intron variant)	3M syndrome 2 +1 more	GBenign
Select item 1286637	NM_015311.3(OBSL1):c.2408-221T>C	OBSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296806	NM_015311.3(OBSL1):c.2407+281C>G	OBSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1309780	NM_015311.3(OBSL1):c.2311C>G (p.His771Asp)	OBSL1 (H771D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 334508	NM_015311.3(OBSL1):c.2168G>A (p.Arg723Lys)	OBSL1 (R723K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1289012	NM_015311.3(OBSL1):c.2134+94T>G	OBSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 334512	NM_015311.3(OBSL1):c.2055C>A (p.Ala685=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 429882	NM_015311.3(OBSL1):c.2032C>T (p.Gln678Ter)	OBSL1 (Q678*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 280285	NM_015311.3(OBSL1):c.1954del (p.Glu652fs)	OBSL1 (E652fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1403928	NM_015311.3(OBSL1):c.1900G>A (p.Val634Ile)	OBSL1 (V634I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579874	NM_015311.3(OBSL1):c.1882T>C (p.Tyr628His)	OBSL1 (Y628H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1242247	NM_015311.3(OBSL1):c.1838-71T>C	OBSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 334517	NM_015311.3(OBSL1):c.1818C>T (p.Phe606=)	OBSL1	Single nucleotide variant (synonymous variant)	3M syndrome 2 +1 more	GBenign
Select item 283841	NM_015311.3(OBSL1):c.1775T>A (p.Ile592Asn)	OBSL1 (I592N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1277373	NM_015311.3(OBSL1):c.1535-31A>G	OBSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 195306	NM_015311.3(OBSL1):c.1273dup (p.Thr425fs)	OBSL1 (T425fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 334526	NM_015311.3(OBSL1):c.1102C>T (p.Arg368Cys)	OBSL1 (R368C)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1221706	NM_015311.3(OBSL1):c.1013-67A>G	OBSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 193382	NM_015311.3(OBSL1):c.921T>C (p.Leu307=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 290129	NM_015311.3(OBSL1):c.580C>T (p.Leu194=)	OBSL1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1432688	NM_015311.3(OBSL1):c.79G>A (p.Ala27Thr)	OBSL1 (A27T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 193385	NM_015311.3(OBSL1):c.75T>G (p.Ser25Arg)	OBSL1 (S25R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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Items: 79