23268[Gene ID] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 179

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 57907	GRCh38/hg38 10q24.2-24.31(chr10:99333940-100475567)x3	LOC126861015, LOC129390222 +63 more	Copy number gain	See cases	GUncertain significance
Select item 146346	GRCh38/hg38 10q24.2-24.31(chr10:99386632-100648221)x3	ABCC2, BLOC1S2 +72 more	Copy number gain	See cases	GUncertain significance
Select item 57908	GRCh38/hg38 10q24.2(chr10:99716324-99999957)x3	ABCC2, COX15 +14 more	Copy number gain	See cases	GUncertain significance
Select item 3038451	NM_015221.4(DNMBP):c.*10G>C	DNMBP	Single nucleotide variant (3 prime UTR variant)	DNMBP-related disorder	GBenign
Select item 3048708	NM_015221.4(DNMBP):c.*6C>T	DNMBP	Single nucleotide variant (3 prime UTR variant)	DNMBP-related disorder	GLikely benign
Select item 3038273	NM_015221.4(DNMBP):c.4725G>A (p.Glu1575=)	DNMBP	Single nucleotide variant (synonymous variant)	DNMBP-related disorder	GBenign
Select item 2246888	NM_015221.4(DNMBP):c.4681G>C (p.Gly1561Arg)	DNMBP (G1193R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084809	NM_015221.4(DNMBP):c.4680C>A (p.Asn1560Lys)	DNMBP (N848K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282726	NM_015221.4(DNMBP):c.4638A>T (p.Lys1546Asn)	DNMBP (K1178N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332969	NM_015221.4(DNMBP):c.4588A>G (p.Asn1530Asp)	DNMBP (N1530D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246377	NM_015221.4(DNMBP):c.4538A>G (p.Glu1513Gly)	DNMBP (E1145G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033669	NM_015221.4(DNMBP):c.4500G>A (p.Pro1500=)	DNMBP	Single nucleotide variant (synonymous variant)	DNMBP-related disorder	GBenign
Select item 3084808	NM_015221.4(DNMBP):c.4468G>A (p.Val1490Ile)	DNMBP (V1490I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043207	NM_015221.4(DNMBP):c.4448A>G (p.Asn1483Ser)	DNMBP (N1115S +2 more)	Single nucleotide variant (missense variant)	DNMBP-related disorder	GLikely benign
Select item 2554830	NM_015221.4(DNMBP):c.4445G>A (p.Arg1482Gln)	DNMBP (R770Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410498	NM_015221.4(DNMBP):c.4435G>A (p.Val1479Ile)	DNMBP (V1111I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060443	NM_015221.4(DNMBP):c.4434C>T (p.Ser1478=)	DNMBP	Single nucleotide variant (synonymous variant)	DNMBP-related disorder	GBenign
Select item 2598872	NM_015221.4(DNMBP):c.4388C>T (p.Pro1463Leu)	DNMBP (P1095L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2616109	NM_015221.4(DNMBP):c.4358C>T (p.Ala1453Val)	DNMBP (A1085V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084807	NM_015221.4(DNMBP):c.4354G>C (p.Val1452Leu)	DNMBP (V1084L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1255519	NM_015221.4(DNMBP):c.4320C>T (p.Ser1440=)	DNMBP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1050477	NM_015221.4(DNMBP):c.4301G>A (p.Cys1434Tyr)	DNMBP (C1066Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1255520	NM_015221.4(DNMBP):c.4239T>G (p.Cys1413Trp)	DNMBP (C1045W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3084806	NM_015221.4(DNMBP):c.4127G>A (p.Arg1376His)	DNMBP (R1008H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044155	NM_015221.4(DNMBP):c.4101C>T (p.His1367=)	DNMBP	Single nucleotide variant (synonymous variant)	DNMBP-related disorder	GLikely benign
Select item 2467193	NM_015221.4(DNMBP):c.4060G>A (p.Asp1354Asn)	DNMBP (D986N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084805	NM_015221.4(DNMBP):c.4058C>G (p.Ser1353Cys)	DNMBP (S1353C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225672	NM_015221.4(DNMBP):c.4045C>G (p.Arg1349Gly)	DNMBP (R637G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273236	NM_015221.4(DNMBP):c.4012G>A (p.Val1338Met)	DNMBP (V1338M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273234	NM_015221.4(DNMBP):c.3977G>A (p.Arg1326His)	DNMBP (R1326H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322135	NM_015221.4(DNMBP):c.3914C>T (p.Ser1305Leu)	DNMBP (S1305L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332058	NM_015221.4(DNMBP):c.3910G>A (p.Val1304Ile)	DNMBP (V1304I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459353	NM_015221.4(DNMBP):c.3890A>G (p.Asn1297Ser)	DNMBP (N929S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395404	NM_015221.4(DNMBP):c.3881G>A (p.Arg1294Gln)	DNMBP (R582Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399790	NM_015221.4(DNMBP):c.3880C>T (p.Arg1294Trp)	DNMBP (R1294W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591017	NM_015221.4(DNMBP):c.3830G>A (p.Arg1277Gln)	DNMBP (R1277Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608976	NM_015221.4(DNMBP):c.3829C>T (p.Arg1277Trp)	DNMBP (R565W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265735	NM_015221.4(DNMBP):c.3818C>T (p.Ser1273Leu)	DNMBP (S905L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1050131	NM_015221.4(DNMBP):c.3815A>C (p.Gln1272Pro)	DNMBP (Q1272P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640754	NM_015221.4(DNMBP):c.3814C>T (p.Gln1272Ter)	DNMBP (Q1272* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2460585	NM_015221.4(DNMBP):c.3758C>G (p.Thr1253Ser)	DNMBP (T1253S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1255521	NM_015221.4(DNMBP):c.3744A>G (p.Pro1248=)	DNMBP	Single nucleotide variant (synonymous variant)	Cataract 48 +1 more	GBenign
Select item 2493810	NM_015221.4(DNMBP):c.3734C>T (p.Thr1245Ile)	DNMBP (T533I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363785	NM_015221.4(DNMBP):c.3714C>G (p.Phe1238Leu)	DNMBP (F526L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059198	NM_015221.4(DNMBP):c.3708C>T (p.Thr1236=)	DNMBP	Single nucleotide variant (synonymous variant)	DNMBP-related disorder	GBenign
Select item 3084801	NM_015221.4(DNMBP):c.3617C>T (p.Ser1206Leu)	DNMBP (S1206L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273238	NM_015221.4(DNMBP):c.3601T>G (p.Leu1201Val)	DNMBP (L1201V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513312	NM_015221.4(DNMBP):c.3543C>G (p.Asn1181Lys)	DNMBP (N469K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238848	NM_015221.4(DNMBP):c.3472G>A (p.Glu1158Lys)	DNMBP (E1158K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403615	NM_015221.4(DNMBP):c.3461G>A (p.Arg1154Gln)	DNMBP (R442Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514947	NM_015221.4(DNMBP):c.3453G>T (p.Gln1151His)	DNMBP (Q1151H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532140	NM_015221.4(DNMBP):c.3428A>T (p.Asp1143Val)	DNMBP (D431V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332141	NM_015221.4(DNMBP):c.3397A>G (p.Asn1133Asp)	DNMBP (N1133D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591527	NM_015221.4(DNMBP):c.3370C>T (p.Arg1124Cys)	DNMBP (R1124C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056379	NM_015221.4(DNMBP):c.3318C>T (p.Pro1106=)	DNMBP	Single nucleotide variant (synonymous variant)	DNMBP-related disorder	GBenign
Select item 3273241	NM_015221.4(DNMBP):c.3312C>G (p.Ile1104Met)	DNMBP (I1104M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041328	NM_015221.4(DNMBP):c.3302G>A (p.Arg1101Gln)	DNMBP (R1101Q +2 more)	Single nucleotide variant (missense variant)	DNMBP-related disorder	GBenign
Select item 2473878	NM_015221.4(DNMBP):c.3301C>T (p.Arg1101Trp)	DNMBP (R733W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595124	NM_015221.4(DNMBP):c.3224G>A (p.Arg1075Gln)	DNMBP (R707Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084800	NM_015221.4(DNMBP):c.3223C>T (p.Arg1075Trp)	DNMBP (R707W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259520	NM_015221.4(DNMBP):c.3212A>G (p.Glu1071Gly)	DNMBP (E1071G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045147	NM_015221.4(DNMBP):c.3209T>C (p.Met1070Thr)	DNMBP (M1070T +2 more)	Single nucleotide variant (missense variant)	DNMBP-related disorder	GLikely benign
Select item 1255522	NM_015221.4(DNMBP):c.3156+7A>G	DNMBP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3273235	NM_015221.4(DNMBP):c.3134C>G (p.Ser1045Cys)	DNMBP (S1045C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340842	NM_015221.4(DNMBP):c.3067T>G (p.Phe1023Val)	DNMBP (F1023V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046632	NM_015221.4(DNMBP):c.3027G>A (p.Lys1009=)	DNMBP	Single nucleotide variant (synonymous variant)	DNMBP-related disorder	GLikely benign
Select item 3273232	NM_015221.4(DNMBP):c.3005A>G (p.Asn1002Ser)	DNMBP (N1002S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327346	NM_015221.4(DNMBP):c.2957T>C (p.Met986Thr)	DNMBP (M274T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399561	NM_015221.4(DNMBP):c.2950A>T (p.Ser984Cys)	DNMBP (S272C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 626918	NM_015221.4(DNMBP):c.2947_2948del (p.Glu982_Asp983insTer)	DNMBP	Deletion (nonsense)	Cataract 48	GPathogenic
Select item 3084798	NM_015221.4(DNMBP):c.2933G>A (p.Arg978His)	DNMBP (R266H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084797	NM_015221.4(DNMBP):c.2890A>G (p.Ile964Val)	DNMBP (I596V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1255523	NM_015221.4(DNMBP):c.2883C>T (p.Asn961=)	DNMBP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 626919	NM_015221.4(DNMBP):c.2852_2855del (p.Thr951fs)	DNMBP (T951fs +2 more)	Deletion (frameshift variant)	Cataract 48	GPathogenic
Select item 3084796	NM_015221.4(DNMBP):c.2842G>C (p.Val948Leu)	DNMBP (V580L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273240	NM_015221.4(DNMBP):c.2781G>T (p.Met927Ile)	DNMBP (M215I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034579	NM_015221.4(DNMBP):c.2742C>G (p.Asn914Lys)	DNMBP (N202K +2 more)	Single nucleotide variant (missense variant)	DNMBP-related disorder	GBenign
Select item 2382317	NM_015221.4(DNMBP):c.2723G>T (p.Gly908Val)	DNMBP (G908V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594583	NM_015221.4(DNMBP):c.2716G>A (p.Glu906Lys)	DNMBP (E538K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084795	NM_015221.4(DNMBP):c.2668C>G (p.Gln890Glu)	DNMBP (Q178E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556596	NM_015221.4(DNMBP):c.2594C>A (p.Thr865Lys)	DNMBP (T153K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038596	NM_015221.4(DNMBP):c.2583G>A (p.Glu861=)	DNMBP	Single nucleotide variant (synonymous variant)	DNMBP-related disorder	GBenign
Select item 3052955	NM_015221.4(DNMBP):c.2554+8C>T	DNMBP	Single nucleotide variant (intron variant)	DNMBP-related disorder	GLikely benign
Select item 3055504	NM_015221.4(DNMBP):c.2514G>A (p.Ser838=)	DNMBP	Single nucleotide variant (synonymous variant)	DNMBP-related disorder	GBenign
Select item 2227549	NM_015221.4(DNMBP):c.2497A>G (p.Met833Val)	DNMBP (M833V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055250	NM_015221.4(DNMBP):c.2492T>C (p.Met831Thr)	DNMBP (M119T +2 more)	Single nucleotide variant (missense variant)	DNMBP-related disorder	GBenign
Select item 3053441	NM_015221.4(DNMBP):c.2459C>T (p.Pro820Leu)	DNMBP (P108L +2 more)	Single nucleotide variant (missense variant)	DNMBP-related disorder	GBenign
Select item 3084794	NM_015221.4(DNMBP):c.2438C>T (p.Pro813Leu)	DNMBP (P101L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043493	NM_015221.4(DNMBP):c.2261-4829A>G	DNMBP	Single nucleotide variant (synonymous variant +1 more)	DNMBP-related disorder	GLikely benign
Select item 3037742	NM_015221.4(DNMBP):c.2261-4933dup	DNMBP	Duplication (5 prime UTR variant +1 more)	DNMBP-related disorder	GLikely benign
Select item 3059416	NM_015221.4(DNMBP):c.2261-20475C>G	DNMBP, DNMBP-AS1 (S381R)	Single nucleotide variant (missense variant +1 more)	DNMBP-related disorder	GBenign
Select item 3041475	NM_015221.4(DNMBP):c.2261-20486G>A	DNMBP, DNMBP-AS1 (V378M)	Single nucleotide variant (missense variant +1 more)	DNMBP-related disorder	GBenign
Select item 3034379	NM_015221.4(DNMBP):c.2261-20487C>T	DNMBP, DNMBP-AS1	Single nucleotide variant (synonymous variant +1 more)	DNMBP-related disorder	GBenign
Select item 3039087	NM_015221.4(DNMBP):c.2261-20815A>G	DNMBP, DNMBP-AS1 (Y268C)	Single nucleotide variant (missense variant +1 more)	DNMBP-related disorder	GBenign
Select item 3040160	NM_015221.4(DNMBP):c.2261-21193G>A	DNMBP, DNMBP-AS1 (C142Y)	Single nucleotide variant (missense variant +1 more)	DNMBP-related disorder	GBenign
Select item 3042017	NM_015221.4(DNMBP):c.2261-21218G>A	DNMBP, DNMBP-AS1 (G134R)	Single nucleotide variant (missense variant +1 more)	DNMBP-related disorder	GBenign
Select item 2632105	NM_015221.4(DNMBP):c.2261-21460G>A	DNMBP, DNMBP-AS1 (W53*)	Single nucleotide variant (nonsense +1 more)	DNMBP-related disorder	GUncertain significance
Select item 3059290	NM_015221.4(DNMBP):c.2261-21476T>C	DNMBP, DNMBP-AS1	Single nucleotide variant (synonymous variant +1 more)	DNMBP-related disorder	GBenign

<< First< Prev

Page of 2