ClinVar for Gene (Select 11173) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 214

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3267895	NM_014272.5(ADAMTS7):c.1816C>T (p.His606Tyr)	ADAMTS7 (H606Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267885	NM_014272.5(ADAMTS7):c.4143C>A (p.Ser1381Arg)	ADAMTS7 (S1381R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267874	NM_014272.5(ADAMTS7):c.418G>C (p.Glu140Gln)	ADAMTS7 (E140Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267864	NM_014272.5(ADAMTS7):c.4874C>T (p.Thr1625Ile)	ADAMTS7 (T1625I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267856	NM_014272.5(ADAMTS7):c.97C>G (p.Pro33Ala)	ADAMTS7 (P33A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267846	NM_014272.5(ADAMTS7):c.1813A>G (p.Ser605Gly)	ADAMTS7 (S605G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267830	NM_014272.5(ADAMTS7):c.4360C>G (p.Pro1454Ala)	ADAMTS7 (P1454A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267819	NM_014272.5(ADAMTS7):c.2731G>A (p.Val911Met)	ADAMTS7 (V911M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267813	NM_014272.5(ADAMTS7):c.4687C>T (p.Arg1563Trp)	ADAMTS7 (R1563W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267807	NM_014272.5(ADAMTS7):c.4036C>T (p.His1346Tyr)	ADAMTS7 (H1346Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267787	NM_014272.5(ADAMTS7):c.1906G>A (p.Ala636Thr)	ADAMTS7 (A636T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267777	NM_014272.5(ADAMTS7):c.3412G>A (p.Gly1138Ser)	ADAMTS7 (G1138S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267766	NM_014272.5(ADAMTS7):c.1324C>T (p.Arg442Cys)	ADAMTS7 (R442C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267756	NM_014272.5(ADAMTS7):c.2836T>A (p.Trp946Arg)	ADAMTS7 (W946R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078317	NM_014272.5(ADAMTS7):c.7G>A (p.Gly3Ser)	ADAMTS7 (G3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078305	NM_014272.5(ADAMTS7):c.664C>T (p.Arg222Trp)	ADAMTS7 (R222W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078298	NM_014272.5(ADAMTS7):c.56T>C (p.Leu19Pro)	ADAMTS7 (L19P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078292	NM_014272.5(ADAMTS7):c.5057G>A (p.Arg1686His)	ADAMTS7 (R1686H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078288	NM_014272.5(ADAMTS7):c.5045G>A (p.Arg1682Gln)	ADAMTS7 (R1682Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078273	NM_014272.5(ADAMTS7):c.4960C>T (p.Arg1654Cys)	ADAMTS7 (R1654C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078253	NM_014272.5(ADAMTS7):c.4861C>T (p.Arg1621Trp)	ADAMTS7 (R1621W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078243	NM_014272.5(ADAMTS7):c.4602G>T (p.Glu1534Asp)	ADAMTS7 (E1534D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078234	NM_014272.5(ADAMTS7):c.4478G>A (p.Arg1493Gln)	ADAMTS7 (R1493Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078218	NM_014272.5(ADAMTS7):c.4438G>A (p.Gly1480Arg)	ADAMTS7 (G1480R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078204	NM_014272.5(ADAMTS7):c.4322G>A (p.Gly1441Asp)	ADAMTS7 (G1441D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078201	NM_014272.5(ADAMTS7):c.4321G>C (p.Gly1441Arg)	ADAMTS7 (G1441R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078185	NM_014272.5(ADAMTS7):c.419A>G (p.Glu140Gly)	ADAMTS7 (E140G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078180	NM_014272.5(ADAMTS7):c.416T>G (p.Leu139Arg)	ADAMTS7 (L139R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078168	NM_014272.5(ADAMTS7):c.4039A>G (p.Met1347Val)	ADAMTS7 (M1347V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078155	NM_014272.5(ADAMTS7):c.3932A>G (p.Glu1311Gly)	ADAMTS7 (E1311G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078151	NM_014272.5(ADAMTS7):c.3859G>A (p.Val1287Ile)	ADAMTS7 (V1287I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078145	NM_014272.5(ADAMTS7):c.3799G>T (p.Ala1267Ser)	ADAMTS7 (A1267S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078118	NM_014272.5(ADAMTS7):c.3655A>G (p.Lys1219Glu)	ADAMTS7 (K1219E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3078114	NM_014272.5(ADAMTS7):c.3632G>A (p.Arg1211Gln)	ADAMTS7 (R1211Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078109	NM_014272.5(ADAMTS7):c.3622C>T (p.Pro1208Ser)	ADAMTS7 (P1208S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078100	NM_014272.5(ADAMTS7):c.3571G>C (p.Glu1191Gln)	ADAMTS7 (E1191Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078092	NM_014272.5(ADAMTS7):c.3496G>A (p.Ala1166Thr)	ADAMTS7 (A1166T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078082	NM_014272.5(ADAMTS7):c.3428C>T (p.Pro1143Leu)	ADAMTS7 (P1143L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078075	NM_014272.5(ADAMTS7):c.3424C>T (p.Pro1142Ser)	ADAMTS7 (P1142S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078071	NM_014272.5(ADAMTS7):c.3424C>A (p.Pro1142Thr)	ADAMTS7 (P1142T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078069	NM_014272.5(ADAMTS7):c.3419C>T (p.Ser1140Phe)	ADAMTS7 (S1140F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078066	NM_014272.5(ADAMTS7):c.3415C>T (p.Arg1139Cys)	ADAMTS7 (R1139C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078049	NM_014272.5(ADAMTS7):c.3280C>G (p.Arg1094Gly)	ADAMTS7 (R1094G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078040	NM_014272.5(ADAMTS7):c.3250C>T (p.Pro1084Ser)	ADAMTS7 (P1084S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078031	NM_014272.5(ADAMTS7):c.3220G>A (p.Glu1074Lys)	ADAMTS7 (E1074K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078012	NM_014272.5(ADAMTS7):c.3068C>G (p.Pro1023Arg)	ADAMTS7 (P1023R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078004	NM_014272.5(ADAMTS7):c.2984G>A (p.Arg995Gln)	ADAMTS7 (R995Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077996	NM_014272.5(ADAMTS7):c.281A>G (p.Asn94Ser)	ADAMTS7 (N94S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077994	NM_014272.5(ADAMTS7):c.2800A>T (p.Thr934Ser)	ADAMTS7 (T934S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077990	NM_014272.5(ADAMTS7):c.2767G>A (p.Ala923Thr)	ADAMTS7 (A923T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077989	NM_014272.5(ADAMTS7):c.2726G>A (p.Arg909His)	ADAMTS7 (R909H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077986	NM_014272.5(ADAMTS7):c.2630A>G (p.Gln877Arg)	ADAMTS7 (Q877R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077980	NM_014272.5(ADAMTS7):c.2456C>T (p.Pro819Leu)	ADAMTS7 (P819L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077962	NM_014272.5(ADAMTS7):c.193C>T (p.Arg65Cys)	ADAMTS7 (R65C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077955	NM_014272.5(ADAMTS7):c.190C>T (p.Pro64Ser)	ADAMTS7 (P64S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077947	NM_014272.5(ADAMTS7):c.1741C>T (p.Arg581Cys)	ADAMTS7 (R581C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077943	NM_014272.5(ADAMTS7):c.1712A>G (p.Lys571Arg)	ADAMTS7 (K571R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077936	NM_014272.5(ADAMTS7):c.16A>G (p.Ser6Gly)	ADAMTS7 (S6G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077915	NM_014272.5(ADAMTS7):c.1603G>A (p.Glu535Lys)	ADAMTS7 (E535K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077912	NM_014272.5(ADAMTS7):c.1556A>G (p.Asn519Ser)	ADAMTS7 (N519S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3077905	NM_014272.5(ADAMTS7):c.1451T>G (p.Phe484Cys)	ADAMTS7 (F484C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077869	NM_014272.5(ADAMTS7):c.1205G>A (p.Gly402Asp)	ADAMTS7 (G402D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077846	NM_014272.5(ADAMTS7):c.1057C>T (p.Pro353Ser)	ADAMTS7 (P353S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063380	GRCh37/hg19 15q25.1(chr15:78854250-79085390)x3	ADAMTS7, CHRNA3 +2 more	Copy number gain	not specified	GUncertain significance
Select item 2684763	GRCh37/hg19 15q25.1(chr15:78939575-79274138)x3	ADAMTS7, CTSH +2 more	Copy number gain	not provided	GUncertain significance
Select item 2645623	NM_014272.5(ADAMTS7):c.377C>T (p.Pro126Leu)	ADAMTS7 (P126L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2645622	NM_014272.5(ADAMTS7):c.2310C>T (p.Tyr770=)	ADAMTS7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645621	NM_014272.5(ADAMTS7):c.2935G>A (p.Glu979Lys)	ADAMTS7 (E979K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2645620	NM_014272.5(ADAMTS7):c.3071A>G (p.His1024Arg)	ADAMTS7 (H1024R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2645619	NM_014272.5(ADAMTS7):c.3219C>T (p.His1073=)	ADAMTS7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645618	NM_014272.5(ADAMTS7):c.3252C>T (p.Pro1084=)	ADAMTS7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645617	NM_014272.5(ADAMTS7):c.3286C>A (p.Pro1096Thr)	ADAMTS7 (P1096T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2645616	NM_014272.5(ADAMTS7):c.4305G>A (p.Pro1435=)	ADAMTS7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645615	NM_014272.5(ADAMTS7):c.4515C>T (p.Pro1505=)	ADAMTS7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645614	NM_014272.5(ADAMTS7):c.4713G>T (p.Thr1571=)	ADAMTS7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621156	NM_014272.5(ADAMTS7):c.3001C>A (p.Leu1001Met)	ADAMTS7 (L1001M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619622	NM_014272.5(ADAMTS7):c.4759G>C (p.Gly1587Arg)	ADAMTS7 (G1587R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619321	NM_014272.5(ADAMTS7):c.3640A>G (p.Thr1214Ala)	ADAMTS7 (T1214A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614747	NM_014272.5(ADAMTS7):c.1504A>G (p.Thr502Ala)	ADAMTS7 (T502A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611347	NM_014272.5(ADAMTS7):c.2951C>A (p.Ala984Asp)	ADAMTS7 (A984D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605829	NM_014272.5(ADAMTS7):c.68C>A (p.Ala23Asp)	ADAMTS7 (A23D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604044	NM_014272.5(ADAMTS7):c.1778C>T (p.Pro593Leu)	ADAMTS7 (P593L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603572	NM_014272.5(ADAMTS7):c.613G>A (p.Gly205Arg)	ADAMTS7 (G205R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600499	NM_014272.5(ADAMTS7):c.2572G>A (p.Glu858Lys)	ADAMTS7 (E858K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598114	NM_014272.5(ADAMTS7):c.4427G>A (p.Arg1476His)	ADAMTS7 (R1476H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596178	NM_014272.5(ADAMTS7):c.4982G>A (p.Arg1661His)	ADAMTS7 (R1661H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595769	NM_014272.5(ADAMTS7):c.1204G>A (p.Gly402Ser)	ADAMTS7 (G402S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595618	NM_014272.5(ADAMTS7):c.4600G>A (p.Glu1534Lys)	ADAMTS7 (E1534K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594049	NM_014272.5(ADAMTS7):c.3773C>T (p.Ala1258Val)	ADAMTS7 (A1258V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2592506	NM_014272.5(ADAMTS7):c.4370G>A (p.Arg1457His)	ADAMTS7 (R1457H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2569071	NM_014272.5(ADAMTS7):c.3484A>G (p.Thr1162Ala)	ADAMTS7 (T1162A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2562363	NM_014272.5(ADAMTS7):c.2705G>T (p.Arg902Leu)	ADAMTS7 (R902L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551561	NM_014272.5(ADAMTS7):c.3490A>G (p.Ile1164Val)	ADAMTS7 (I1164V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549112	NM_014272.5(ADAMTS7):c.763G>C (p.Val255Leu)	ADAMTS7 (V255L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548954	NM_014272.5(ADAMTS7):c.3724C>T (p.Pro1242Ser)	ADAMTS7 (P1242S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542400	NM_014272.5(ADAMTS7):c.4948C>T (p.Arg1650Cys)	ADAMTS7 (R1650C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539495	NM_014272.5(ADAMTS7):c.163G>A (p.Gly55Ser)	ADAMTS7 (G55S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539451	NM_014272.5(ADAMTS7):c.2286G>C (p.Gln762His)	ADAMTS7 (Q762H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536228	NM_014272.5(ADAMTS7):c.4496G>A (p.Arg1499Gln)	ADAMTS7 (R1499Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 3