5506[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 155661	GRCh38/hg38 7q31.1(chr7:113245819-114828815)x3	FOXP2, LOC110120618 +11 more	Copy number gain	See cases	GUncertain significance
Select item 59714	GRCh38/hg38 7q31.1-31.2(chr7:113569777-115093349)x3	FOXP2, LINC01393 +21 more	Copy number gain	See cases	GPathogenic
Select item 3024369	GRCh38/hg38 7q31.1-31.2(chr7:113604778-117643891)	ASZ1, CAPZA2 +131 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 60286	GRCh38/hg38 7q31.1-31.33(chr7:113799835-124899218)x1	AASS, ANKRD7 +248 more	Copy number loss	See cases	GPathogenic
Select item 8708	NM_002711.4(PPP1R3A):c.460_465delinsATTTAACACTG	PPP1R3A	Indel (3 prime UTR variant)	Glycemia variation	Gassociation
Select item 3309452	NM_002711.4(PPP1R3A):c.3338G>A (p.Gly1113Asp)	PPP1R3A (G1113D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364202	NM_002711.4(PPP1R3A):c.3317C>T (p.Ser1106Phe)	PPP1R3A (S1106F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 501893	NM_002711.4(PPP1R3A):c.3284T>C (p.Met1095Thr)	PPP1R3A (M1095T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 917447	NM_002711.4(PPP1R3A):c.3260T>G (p.Ile1087Arg)	PPP1R3A (I1087R)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance
Select item 393399	NM_002711.4(PPP1R3A):c.3259A>G (p.Ile1087Val)	PPP1R3A (I1087V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2387543	NM_002711.4(PPP1R3A):c.3215C>G (p.Thr1072Ser)	PPP1R3A (T1072S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237131	NM_002711.4(PPP1R3A):c.3193G>A (p.Glu1065Lys)	PPP1R3A (E1065K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305120	NM_002711.4(PPP1R3A):c.3169G>A (p.Glu1057Lys)	PPP1R3A (E1057K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523652	NM_002711.4(PPP1R3A):c.3148G>T (p.Ala1050Ser)	PPP1R3A (A1050S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619940	NM_002711.4(PPP1R3A):c.3143G>A (p.Ser1048Asn)	PPP1R3A (S1048N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360642	NM_002711.4(PPP1R3A):c.3128A>G (p.Glu1043Gly)	PPP1R3A (E1043G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 393400	NM_002711.4(PPP1R3A):c.3044A>G (p.Asn1015Ser)	PPP1R3A (N1015S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2538678	NM_002711.4(PPP1R3A):c.3031A>G (p.Met1011Val)	PPP1R3A (M1011V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309451	NM_002711.4(PPP1R3A):c.3026G>C (p.Gly1009Ala)	PPP1R3A (G1009A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309453	NM_002711.4(PPP1R3A):c.2991C>G (p.Phe997Leu)	PPP1R3A (F997L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 549557	NM_002711.4(PPP1R3A):c.2990T>G (p.Phe997Cys)	PPP1R3A (F997C)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 549517	NM_002711.4(PPP1R3A):c.2990T>C (p.Phe997Ser)	PPP1R3A (F997S)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance
Select item 917436	NM_002711.4(PPP1R3A):c.2972G>A (p.Arg991Lys)	PPP1R3A (R991K)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance
Select item 3309459	NM_002711.4(PPP1R3A):c.2929T>G (p.Ser977Ala)	PPP1R3A (S977A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544131	NM_002711.4(PPP1R3A):c.2900C>A (p.Pro967His)	PPP1R3A (P967H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 917448	NM_002711.4(PPP1R3A):c.2885G>A (p.Gly962Asp)	PPP1R3A (G962D)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely benign
Select item 1050578	NM_002711.4(PPP1R3A):c.2843C>T (p.Thr948Met)	PPP1R3A (T948M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2609606	NM_002711.4(PPP1R3A):c.2823G>T (p.Met941Ile)	PPP1R3A (M941I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 917449	NM_002711.4(PPP1R3A):c.2822T>C (p.Met941Thr)	PPP1R3A (M941T)	Single nucleotide variant (missense variant)	Monogenic diabetes +1 more	GUncertain significance
Select item 917450	NM_002711.4(PPP1R3A):c.2821A>G (p.Met941Val)	PPP1R3A (M941V)	Single nucleotide variant (missense variant)	Monogenic diabetes +1 more	GUncertain significance
Select item 2288771	NM_002711.4(PPP1R3A):c.2807A>G (p.Asn936Ser)	PPP1R3A (N936S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403870	NM_002711.4(PPP1R3A):c.2805G>T (p.Glu935Asp)	PPP1R3A (E935D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283000	NM_002711.4(PPP1R3A):c.2794A>G (p.Ile932Val)	PPP1R3A (I932V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217651	NM_002711.4(PPP1R3A):c.2774T>C (p.Val925Ala)	PPP1R3A (V925A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217650	NM_002711.4(PPP1R3A):c.2757T>A (p.His919Gln)	PPP1R3A (H919Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289215	NM_002711.4(PPP1R3A):c.2738G>A (p.Ser913Asn)	PPP1R3A (S913N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 8706	NM_002711.4(PPP1R3A):c.2713G>T (p.Asp905Tyr)	PPP1R3A (D905Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3217649	NM_002711.4(PPP1R3A):c.2681C>T (p.Ser894Leu)	PPP1R3A (S894L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2528857	NM_002711.4(PPP1R3A):c.2681C>G (p.Ser894Trp)	PPP1R3A (S894W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 549519	NM_002711.4(PPP1R3A):c.2649G>T (p.Arg883Ser)	PPP1R3A (R883S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1231102	NM_002711.4(PPP1R3A):c.2645T>A (p.Leu882His)	PPP1R3A (L882H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 393401	NM_002711.4(PPP1R3A):c.2640A>T (p.Arg880Ser)	PPP1R3A (R880S)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely benign
Select item 2528291	NM_002711.4(PPP1R3A):c.2579C>T (p.Ser860Leu)	PPP1R3A (S860L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309462	NM_002711.4(PPP1R3A):c.2561A>G (p.Glu854Gly)	PPP1R3A (E854G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3309454	NM_002711.4(PPP1R3A):c.2531C>T (p.Ser844Phe)	PPP1R3A (S844F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329747	NM_002711.4(PPP1R3A):c.2475G>A (p.Met825Ile)	PPP1R3A (M825I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467573	NM_002711.4(PPP1R3A):c.2464A>G (p.Thr822Ala)	PPP1R3A (T822A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217648	NM_002711.4(PPP1R3A):c.2437C>T (p.Arg813Cys)	PPP1R3A (R813C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217647	NM_002711.4(PPP1R3A):c.2419T>A (p.Leu807Ile)	PPP1R3A (L807I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1677426	NM_002711.4(PPP1R3A):c.2390A>G (p.Tyr797Cys)	PPP1R3A (Y797C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3217646	NM_002711.4(PPP1R3A):c.2368C>G (p.Arg790Gly)	PPP1R3A (R790G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 393402	NM_002711.4(PPP1R3A):c.2267C>T (p.Pro756Leu)	PPP1R3A (P756L)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely benign
Select item 3217645	NM_002711.4(PPP1R3A):c.2183G>A (p.Gly728Asp)	PPP1R3A (G728D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309458	NM_002711.4(PPP1R3A):c.2179G>A (p.Ala727Thr)	PPP1R3A (A727T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341933	NM_002711.4(PPP1R3A):c.2122A>G (p.Thr708Ala)	PPP1R3A (T708A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249953	NM_002711.4(PPP1R3A):c.2101G>A (p.Glu701Lys)	PPP1R3A (E701K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463762	NM_002711.4(PPP1R3A):c.2072A>G (p.Asn691Ser)	PPP1R3A (N691S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056925	NM_002711.4(PPP1R3A):c.2061A>G (p.Gly687=)	PPP1R3A	Single nucleotide variant (synonymous variant)	PPP1R3A-related disorder	GLikely benign
Select item 2313774	NM_002711.4(PPP1R3A):c.2018C>G (p.Thr673Arg)	PPP1R3A (T673R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277736	NM_002711.4(PPP1R3A):c.1999G>A (p.Glu667Lys)	PPP1R3A (E667K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 436408	NM_002711.4(PPP1R3A):c.1985_1986del (p.Gln662fs)	PPP1R3A (Q662fs)	Deletion (frameshift variant)	not specified +2 more	GUncertain significance
Select item 2522602	NM_002711.4(PPP1R3A):c.1964G>A (p.Ser655Asn)	PPP1R3A (S655N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 393403	NM_002711.4(PPP1R3A):c.1915G>T (p.Gly639Cys)	PPP1R3A (G639C)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 393404	NM_002711.4(PPP1R3A):c.1880G>A (p.Arg627Lys)	PPP1R3A (R627K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3217643	NM_002711.4(PPP1R3A):c.1841C>A (p.Thr614Asn)	PPP1R3A (T614N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 917451	NM_002711.4(PPP1R3A):c.1835G>A (p.Gly612Glu)	PPP1R3A (G612E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2379795	NM_002711.4(PPP1R3A):c.1831G>A (p.Gly611Arg)	PPP1R3A (G611R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217642	NM_002711.4(PPP1R3A):c.1825G>A (p.Ala609Thr)	PPP1R3A (A609T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 549520	NM_002711.4(PPP1R3A):c.1824C>A (p.Ser608Arg)	PPP1R3A (S608R)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance
Select item 2307183	NM_002711.4(PPP1R3A):c.1767A>C (p.Leu589Phe)	PPP1R3A (L589F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335754	NM_002711.4(PPP1R3A):c.1741G>C (p.Val581Leu)	PPP1R3A (V581L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309463	NM_002711.4(PPP1R3A):c.1727C>A (p.Ala576Glu)	PPP1R3A (A576E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 393405	NM_002711.4(PPP1R3A):c.1714A>G (p.Ile572Val)	PPP1R3A (I572V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3309449	NM_002711.4(PPP1R3A):c.1683C>A (p.Asp561Glu)	PPP1R3A (D561E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217641	NM_002711.4(PPP1R3A):c.1677C>A (p.Asn559Lys)	PPP1R3A (N559K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479000	NM_002711.4(PPP1R3A):c.1637G>T (p.Gly546Val)	PPP1R3A (G546V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217200	NM_002711.4(PPP1R3A):c.1616A>C (p.His539Pro)	PPP1R3A (H539P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295746	NM_002711.4(PPP1R3A):c.1483G>A (p.Ala495Thr)	PPP1R3A (A495T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455812	NM_002711.4(PPP1R3A):c.1478C>T (p.Thr493Met)	PPP1R3A (T493M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217640	NM_002711.4(PPP1R3A):c.1429A>G (p.Ile477Val)	PPP1R3A (I477V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1297972	NM_002711.4(PPP1R3A):c.1428T>A (p.Asn476Lys)	PPP1R3A (N476K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2270033	NM_002711.4(PPP1R3A):c.1413A>C (p.Glu471Asp)	PPP1R3A (E471D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1233474	NM_002711.4(PPP1R3A):c.1351G>A (p.Val451Met)	PPP1R3A (V451M)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +1 more	GBenign
Select item 3309456	NM_002711.4(PPP1R3A):c.1302C>G (p.Ser434Arg)	PPP1R3A (S434R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275394	NM_002711.4(PPP1R3A):c.1283T>A (p.Val428Glu)	PPP1R3A (V428E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 549521	NM_002711.4(PPP1R3A):c.1217A>C (p.Glu406Ala)	PPP1R3A (E406A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 917452	NM_002711.4(PPP1R3A):c.1183T>G (p.Ser395Ala)	PPP1R3A (S395A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2600466	NM_002711.4(PPP1R3A):c.1150G>A (p.Val384Ile)	PPP1R3A (V384I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2530976	NM_002711.4(PPP1R3A):c.1129A>T (p.Ser377Cys)	PPP1R3A (S377C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242379	NM_002711.4(PPP1R3A):c.1088G>A (p.Gly363Asp)	PPP1R3A (G363D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 917464	NM_002711.4(PPP1R3A):c.1040T>C (p.Val347Ala)	PPP1R3A (V347A)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance
Select item 2318449	NM_002711.4(PPP1R3A):c.986G>T (p.Arg329Ile)	PPP1R3A (R329I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1232764	NM_002711.4(PPP1R3A):c.967-76A>G	PPP1R3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269565	NM_002711.4(PPP1R3A):c.967-82G>A	PPP1R3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3309448	NM_002711.4(PPP1R3A):c.965T>C (p.Met322Thr)	PPP1R3A (M322T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493423	NM_002711.4(PPP1R3A):c.890T>G (p.Leu297Trp)	PPP1R3A (L297W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535628	NM_002711.4(PPP1R3A):c.879C>G (p.Asp293Glu)	PPP1R3A (D293E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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