5971[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	LOC129391127, LOC129391128 +363 more	Copy number gain	See cases	GPathogenic
Select item 1463700	NM_006509.4(RELB):c.1A>G (p.Met1Val)	LOC130064661, RELB (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1718226	NM_006509.4(RELB):c.14G>A (p.Gly5Glu)	LOC130064661, RELB (G5E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1157762	NM_006509.4(RELB):c.21C>T (p.Ala7=)	LOC130064661, RELB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1377583	NM_006509.4(RELB):c.26G>A (p.Gly9Glu)	LOC130064661, RELB (G9E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3313563	NM_006509.4(RELB):c.28C>A (p.Pro10Thr)	LOC130064661, RELB (P10T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1005629	NM_006509.4(RELB):c.38C>T (p.Pro13Leu)	LOC130064661, RELB (P13L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1347555	NM_006509.4(RELB):c.40A>C (p.Thr14Pro)	RELB, LOC130064661 (T14P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2047010	NM_006509.4(RELB):c.46C>T (p.Arg16Trp)	LOC130064661, RELB (R16W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2491882	NM_006509.4(RELB):c.47G>C (p.Arg16Pro)	LOC130064661, RELB (R16P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2780757	NM_006509.4(RELB):c.48G>C (p.Arg16=)	LOC130064661, RELB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1435965	NM_006509.4(RELB):c.55C>G (p.Pro19Ala)	LOC130064661, RELB (P19A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2780441	NM_006509.4(RELB):c.56C>G (p.Pro19Arg)	LOC130064661, RELB (P19R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1643009	NM_006509.4(RELB):c.57G>C (p.Pro19=)	LOC130064661, RELB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1407890	NM_006509.4(RELB):c.77C>T (p.Pro26Leu)	LOC130064661, RELB (P26L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1401691	NM_006509.4(RELB):c.80C>G (p.Pro27Arg)	LOC130064661, RELB (P27R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2767651	NM_006509.4(RELB):c.83C>T (p.Ala28Val)	LOC130064661, RELB (A28V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2004755	NM_006509.4(RELB):c.87G>A (p.Ala29=)	LOC130064661, RELB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1356718	NM_006509.4(RELB):c.89C>G (p.Pro30Arg)	LOC130064661, RELB (P30R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1923067	NM_006509.4(RELB):c.105A>C (p.Leu35Phe)	LOC130064661, RELB (L35F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1413689	NM_006509.4(RELB):c.106G>A (p.Gly36Arg)	LOC130064661, RELB (G36R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2817720	NM_006509.4(RELB):c.107G>A (p.Gly36Glu)	RELB (G36E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1397659	NM_006509.4(RELB):c.107G>T (p.Gly36Val)	RELB (G36V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1627079	NM_006509.4(RELB):c.108G>A (p.Gly36=)	RELB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3003573	NM_006509.4(RELB):c.110C>T (p.Ser37Phe)	RELB (S37F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967292	NM_006509.4(RELB):c.111C>T (p.Ser37=)	RELB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1470563	NM_006509.4(RELB):c.115G>C (p.Asp39His)	RELB (D39H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2721672	NM_006509.4(RELB):c.116del (p.Asp39fs)	RELB (D39fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1574354	NM_006509.4(RELB):c.117C>T (p.Asp39=)	RELB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1433250	NM_006509.4(RELB):c.122C>T (p.Ser41Phe)	RELB (S41F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2002243	NM_006509.4(RELB):c.131C>T (p.Ser44Leu)	RELB (S44L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1587060	NM_006509.4(RELB):c.135C>G (p.Leu45=)	RELB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2714621	NM_006509.4(RELB):c.138C>A (p.Ala46=)	RELB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2144565	NM_006509.4(RELB):c.138C>T (p.Ala46=)	RELB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957834	NM_006509.4(RELB):c.140T>C (p.Val47Ala)	RELB (V47A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1571755	NM_006509.4(RELB):c.144C>T (p.Ser48=)	RELB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1443568	NM_006509.4(RELB):c.147G>A (p.Arg49=)	RELB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2108321	NM_006509.4(RELB):c.154+3G>T	RELB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1996600	NM_006509.4(RELB):c.154+3G>A	RELB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1949833	NM_006509.4(RELB):c.154+5G>A	RELB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1452319	NM_006509.4(RELB):c.154+10C>G	RELB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2010975	NM_006509.4(RELB):c.154+15A>G	RELB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1644942	NM_006509.4(RELB):c.154+16C>T	RELB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1544391	NM_006509.4(RELB):c.154+17A>C	RELB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2038732	NM_006509.4(RELB):c.155-15C>T	RELB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2046579	NM_006509.4(RELB):c.155-13C>T	RELB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1646101	NM_006509.4(RELB):c.164-19G>A	RELB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2021286	NM_006509.4(RELB):c.164-13T>C	RELB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1160622	NM_006509.4(RELB):c.164-7C>T	RELB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1658025	NM_006509.4(RELB):c.174C>T (p.Asp58=)	RELB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2012695	NM_006509.4(RELB):c.192C>T (p.Asn64=)	RELB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960681	NM_006509.4(RELB):c.201C>G (p.Gly67=)	RELB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1156196	NM_006509.4(RELB):c.207C>T (p.Asp69=)	RELB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2113054	NM_006509.4(RELB):c.213A>G (p.Gly71=)	RELB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854414	NM_006509.4(RELB):c.214C>T (p.Gln72Ter)	RELB (Q69* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1387870	NM_006509.4(RELB):c.218C>T (p.Pro73Leu)	RELB (P73L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1604454	NM_006509.4(RELB):c.219G>T (p.Pro73=)	RELB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2113055	NM_006509.4(RELB):c.222C>A (p.Gly74=)	RELB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2109107	NM_006509.4(RELB):c.223C>G (p.Pro75Ala)	RELB (P72A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2113056	NM_006509.4(RELB):c.224_229del (p.Pro75_Glu77delinsGln)	RELB	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 2078609	NM_006509.4(RELB):c.224C>G (p.Pro75Arg)	RELB (P72R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1416145	NM_006509.4(RELB):c.228C>T (p.Gly76=)	RELB	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2782736	NM_006509.4(RELB):c.235C>T (p.Leu79=)	RELB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1383215	NM_006509.4(RELB):c.239C>T (p.Pro80Leu)	RELB (P80L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2693267	NM_006509.4(RELB):c.240A>G (p.Pro80=)	RELB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991836	NM_006509.4(RELB):c.242G>A (p.Arg81His)	RELB (R78H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2174310	NM_006509.4(RELB):c.246G>A (p.Leu82=)	RELB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1407412	NM_006509.4(RELB):c.250T>C (p.Ser84Pro)	RELB (S84P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986295	NM_006509.4(RELB):c.263C>T (p.Ala88Val)	RELB (A85V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1591895	NM_006509.4(RELB):c.264G>A (p.Ala88=)	RELB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2200600	NM_006509.4(RELB):c.275C>T (p.Thr92Met)	RELB (T89M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2158550	NM_006509.4(RELB):c.276G>T (p.Thr92=)	RELB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1672258	NM_006509.4(RELB):c.276G>A (p.Thr92=)	RELB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1630443	NM_006509.4(RELB):c.276G>C (p.Thr92=)	RELB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3251098	NM_006509.4(RELB):c.282C>T (p.Thr94=)	RELB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2721405	NM_006509.4(RELB):c.289C>A (p.Pro97Thr)	RELB (P97T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2784380	NM_006509.4(RELB):c.295G>T (p.Ala99Ser)	RELB (A99S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007702	NM_006509.4(RELB):c.296C>T (p.Ala99Val)	RELB (A96V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1920190	NM_006509.4(RELB):c.312G>A (p.Pro104=)	RELB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1390083	NM_006509.4(RELB):c.314C>T (p.Pro105Leu)	RELB (P105L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1594996	NM_006509.4(RELB):c.315G>A (p.Pro105=)	RELB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996505	NM_006509.4(RELB):c.324C>T (p.Gly108=)	RELB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990721	NM_006509.4(RELB):c.325T>A (p.Cys109Ser)	RELB (C109S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1410654	NM_006509.4(RELB):c.334G>A (p.Gly112Ser)	RELB (G112S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2730556	NM_006509.4(RELB):c.337C>G (p.Arg113Gly)	RELB (R113G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2125951	NM_006509.4(RELB):c.338G>A (p.Arg113Gln)	RELB (R113Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2828023	NM_006509.4(RELB):c.347C>T (p.Ser116Phe)	RELB (S113F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2791271	NM_006509.4(RELB):c.356C>T (p.Pro119Leu)	RELB (P116L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 708621	NM_006509.4(RELB):c.357G>A (p.Pro119=)	RELB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2800673	NM_006509.4(RELB):c.361C>G (p.Pro121Ala)	RELB (P121A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1971941	NM_006509.4(RELB):c.362C>A (p.Pro121Gln)	RELB (P121Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1437706	NM_006509.4(RELB):c.362C>T (p.Pro121Leu)	RELB (P121L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1382644	NM_006509.4(RELB):c.374C>T (p.Pro125Leu)	RELB (P125L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1441395	NM_006509.4(RELB):c.389C>T (p.Thr130Met)	RELB (T130M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 996038	NM_006509.4(RELB):c.401AGC[3] (p.Gln135dup)	RELB	Microsatellite (inframe_insertion)	Immunodeficiency 53	GUncertain significance
Select item 2114508	NM_006509.4(RELB):c.402G>A (p.Lys134=)	RELB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 709499	NM_006509.4(RELB):c.405G>A (p.Gln135=)	RELB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2827060	NM_006509.4(RELB):c.421C>T (p.Arg141Cys)	RELB (R138C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2162605	NM_006509.4(RELB):c.426C>T (p.Tyr142=)	RELB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2838756	NM_006509.4(RELB):c.465G>T (p.Glu155Asp)	RELB (E152D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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