2161[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 239

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 153687	GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1	LOC129995359, LOC129995360 +386 more	Copy number loss	See cases	GPathogenic
Select item 58122	GRCh38/hg38 5q35.2-35.3(chr5:175851047-178365049)x3	FAM153A, FAM153B +176 more	Copy number gain	See cases	GPathogenic
Select item 58123	GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3	ADAMTS2, ARL10 +292 more	Copy number gain	See cases	GPathogenic
Select item 154297	GRCh38/hg38 5q35.2-35.3(chr5:175989092-178009412)x1	ARL10, B4GALT7 +145 more	Copy number loss	See cases	GPathogenic
Select item 59300	GRCh38/hg38 5q35.2-35.3(chr5:176043476-177995759)x1	ARL10, B4GALT7 +145 more	Copy number loss	See cases	GPathogenic
Select item 59301	GRCh38/hg38 5q35.2-35.3(chr5:176115257-177646633)x1	LOC129995374, LOC129995375 +136 more	Copy number loss	See cases	GPathogenic
Select item 154443	GRCh38/hg38 5q35.2-35.3(chr5:176132340-177995759)x1	ARL10, B4GALT7 +142 more	Copy number loss	See cases	GPathogenic
Select item 57051	GRCh38/hg38 5q35.2-35.3(chr5:176132340-177586960)x1	ARL10, CDHR2 +129 more	Copy number loss	See cases	GPathogenic
Select item 155396	GRCh38/hg38 5q35.2-35.3(chr5:176143674-178009412)x1	ARL10, B4GALT7 +141 more	Copy number loss	See cases	GPathogenic
Select item 59634	GRCh38/hg38 5q35.2-35.3(chr5:176149599-177716401)x3	ARL10, B4GALT7 +137 more	Copy number gain	See cases	GPathogenic
Select item 59303	GRCh38/hg38 5q35.2-35.3(chr5:176152073-177646633)x1	ARL10, B4GALT7 +134 more	Copy number loss	See cases	GPathogenic
Select item 59302	GRCh38/hg38 5q35.2-35.3(chr5:176152073-177986213)x1	ARL10, B4GALT7 +140 more	Copy number loss	See cases	GPathogenic
Select item 153772	GRCh38/hg38 5q35.2-35.3(chr5:176291838-178662699)x1	ARL10, B4GALT7 +172 more	Copy number loss	See cases	GPathogenic
Select item 154471	GRCh38/hg38 5q35.2-35.3(chr5:176517339-177709289)x1	B4GALT7, CDHR2 +113 more	Copy number loss	See cases	GPathogenic
Select item 154581	GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1	ADAMTS2, B4GALT7 +325 more	Copy number loss	See cases	GPathogenic
Select item 3338422	Single allele	F12, FGFR4 +34 more	Duplication	Russell-Silver syndrome	GPathogenic
Select item 149867	GRCh38/hg38 5q35.3(chr5:177261458-177651722)x3	B4GALT7, DBN1 +65 more	Copy number gain	See cases	GUncertain significance
Select item 352973	NM_003052.5(SLC34A1):c.1483C>T (p.Arg495Cys)	F12, SLC34A1 (R495C)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 352974	NM_003052.5(SLC34A1):c.1635C>T (p.Gly545=)	F12, SLC34A1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 352975	NM_003052.5(SLC34A1):c.1702C>T (p.His568Tyr)	F12, SLC34A1 (H568Y)	Single nucleotide variant (missense variant)	Factor XII deficiency disease +4 more	GBenign/Likely benign
Select item 352976	NM_003052.5(SLC34A1):c.1719A>G (p.Leu573=)	F12, SLC34A1	Single nucleotide variant (synonymous variant)	Nephrolithiasis/osteoporosis, hypophosphatemic +6 more	GBenign/Likely benign
Select item 352979	NM_003052.5(SLC34A1):c.*179G>A	F12, SLC34A1	Single nucleotide variant (3 prime UTR variant)	Nephrolithiasis/osteoporosis, hypophosphatemic +4 more	GBenign/Likely benign
Select item 352980	NM_003052.5(SLC34A1):c.*202A>C	SLC34A1, F12	Single nucleotide variant (3 prime UTR variant)	Factor XII deficiency disease +4 more	GBenign
Select item 352983	NM_003052.5(SLC34A1):c.*361T>C	F12, SLC34A1	Single nucleotide variant (3 prime UTR variant)	Nephrolithiasis/osteoporosis, hypophosphatemic +4 more	GBenign/Likely benign
Select item 352985	NM_003052.5(SLC34A1):c.*485G>A	F12, SLC34A1	Single nucleotide variant (3 prime UTR variant)	Factor XII deficiency disease +3 more	GBenign/Likely benign
Select item 907757	NM_000505.4(F12):c.*86C>T	F12	Single nucleotide variant (3 prime UTR variant)	Hereditary angioedema type 3 +1 more	GUncertain significance
Select item 904429	NM_000505.4(F12):c.*9G>A	F12	Single nucleotide variant (3 prime UTR variant)	Hereditary angioedema type 3 +1 more	GUncertain significance
Select item 2472273	NM_000505.4(F12):c.1813T>C (p.Tyr605His)	F12 (Y605H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2899826	NM_000505.4(F12):c.1812C>T (p.Tyr604=)	F12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3276934	NM_000505.4(F12):c.1808C>T (p.Ala603Val)	F12 (A603V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2729848	NM_000505.4(F12):c.1791C>A (p.Gly597=)	F12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2814001	NM_000505.4(F12):c.1779C>T (p.Arg593=)	F12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3027326	NM_000505.4(F12):c.1774G>A (p.Asp592Asn)	F12 (D592N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 983441	NM_000505.4(F12):c.1768T>G (p.Cys590Gly)	F12 (C590G)	Single nucleotide variant (missense variant)	Hereditary angioedema type 3	GUncertain significance
Select item 1164	NM_000505.4(F12):c.1768T>A (p.Cys590Ser)	SLC34A1, F12 (C590S)	Single nucleotide variant (missense variant)	FACTOR XII (WASHINGTON D.C.)	GPathogenic
Select item 2735342	NM_000505.4(F12):c.1736C>T (p.Thr579Ile)	F12 (T579I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 904430	NM_000505.4(F12):c.1704G>A (p.Val568=)	F12	Single nucleotide variant (synonymous variant)	Hereditary angioedema type 3 +1 more	GConflicting classifications of pathogenicity
Select item 2691308	NM_000505.4(F12):c.1697del (p.Pro566fs)	F12 (P566fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 1166	NM_000505.4(F12):c.1681-1G>A	F12	Single nucleotide variant (splice acceptor variant)	Factor XII deficiency disease +2 more	GConflicting classifications of pathogenicity
Select item 2053250	NM_000505.4(F12):c.1681-7G>A	F12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1036898	NM_000505.4(F12):c.1668del (p.Asp557fs)	F12 (D557fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2335220	NM_000505.4(F12):c.1634G>A (p.Gly545Asp)	F12 (G545D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2656115	NM_000505.4(F12):c.1621T>G (p.Ser541Ala)	F12 (S541A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 983443	NM_000505.4(F12):c.1599A>G (p.Ser533=)	F12	Single nucleotide variant (synonymous variant)	Hereditary angioedema type 3	GUncertain significance
Select item 3091402	NM_000505.4(F12):c.1574C>G (p.Pro525Arg)	F12 (P525R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3066136	NM_000505.4(F12):c.1570del (p.Val524fs)	F12 (V524fs)	Deletion (frameshift variant)	Factor XII deficiency disease	GPathogenic
Select item 2656116	NM_000505.4(F12):c.1569G>A (p.Gln523=)	F12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656117	NM_000505.4(F12):c.1560G>A (p.Gln520=)	F12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3091401	NM_000505.4(F12):c.1553T>C (p.Phe518Ser)	F12 (F518S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2904874	NM_000505.4(F12):c.1532-4G>T	F12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2743748	NM_000505.4(F12):c.1531+12T>C	F12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 983440	NM_000505.4(F12):c.1530G>C (p.Glu510Asp)	F12 (E510D)	Single nucleotide variant (missense variant)	Hereditary angioedema type 3	GUncertain significance
Select item 1906097	NM_000505.4(F12):c.1518C>A (p.Gly506=)	F12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2572132	NM_000505.4(F12):c.1517del (p.Gly506fs)	F12 (G506fs)	Deletion (frameshift variant)	Factor XII deficiency disease	GLikely pathogenic
Select item 2656118	NM_000505.4(F12):c.1492A>G (p.Thr498Ala)	F12 (T498A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025588	NM_000505.4(F12):c.1485C>G (p.Ser495=)	F12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2276981	NM_000505.4(F12):c.1474G>A (p.Ala492Thr)	F12 (A492T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065581	NM_000505.4(F12):c.1462C>T (p.Pro488Ser)	F12 (P488S)	Single nucleotide variant (missense variant)	Factor XII deficiency disease	GUncertain significance
Select item 2491934	NM_000505.4(F12):c.1460T>C (p.Leu487Pro)	F12 (L487P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2414519	NM_000505.4(F12):c.1437G>T (p.Ser479=)	F12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3370136	NM_000505.4(F12):c.1435T>C (p.Ser479Pro)	F12 (S479P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656119	NM_000505.4(F12):c.1428G>A (p.Ala476=)	F12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2263195	NM_000505.4(F12):c.1418G>A (p.Gly473Asp)	F12 (G473D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1252406	NM_000505.4(F12):c.1388-35C>T	F12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 904431	NM_000505.4(F12):c.1387+4C>G	F12	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2443589	NM_000505.4(F12):c.1354G>A (p.Ala452Thr)	F12, SLC34A1 (A452T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870911	NM_000505.4(F12):c.1343G>A (p.Arg448His)	F12 (R448H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 352986	NM_000505.4(F12):c.1342C>T (p.Arg448Cys)	F12, SLC34A1 (R448C)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 2910328	NM_000505.4(F12):c.1329C>T (p.Ala443=)	F12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2141314	NM_000505.4(F12):c.1314G>A (p.Pro438=)	F12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 352987	NM_000505.4(F12):c.1299C>T (p.Asn433=)	SLC34A1, F12	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 352988	NM_000505.4(F12):c.1272G>C (p.Thr424=)	F12, SLC34A1	Single nucleotide variant (synonymous variant)	Hereditary angioedema type 3 +4 more	GBenign/Likely benign
Select item 1703830	NM_000505.4(F12):c.1256C>T (p.Ala419Val)	F12 (A419V)	Single nucleotide variant (missense variant)	Thrombus	GUncertain significance
Select item 1879642	NM_000505.4(F12):c.1251-5dup	F12	Duplication (intron variant)	not provided	GBenign/Likely benign
Select item 3043999	NM_000505.4(F12):c.1251-5del	F12	Deletion (intron variant)	F12-related disorder	GLikely benign
Select item 352989	NM_000505.4(F12):c.1251-7C>T	F12, SLC34A1	Single nucleotide variant (intron variant)	Hereditary angioedema type 3 +3 more	GLikely benign
Select item 2890717	NM_000505.4(F12):c.1251-9C>G	F12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 905230	NM_000505.4(F12):c.1251-9C>A	F12	Single nucleotide variant (intron variant)	Factor XII deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 256309	NM_000505.4(F12):c.1251-9C>T	F12, SLC34A1	Single nucleotide variant (intron variant)	Hereditary angioneurotic edema +5 more	GBenign
Select item 352990	NM_000505.4(F12):c.1251-12C>A	F12	Single nucleotide variant (intron variant)	Hereditary angioedema type 3 +1 more	GUncertain significance
Select item 3091400	NM_000505.4(F12):c.1226C>T (p.Thr409Met)	F12 (T409M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 352991	NM_000505.4(F12):c.1212C>G (p.Pro404=)	F12	Single nucleotide variant (synonymous variant)	Hereditary angioedema type 3 +1 more	GUncertain significance
Select item 906814	NM_000505.4(F12):c.1142G>A (p.Arg381His)	F12 (R381H)	Single nucleotide variant (missense variant)	Factor XII deficiency disease +1 more	GUncertain significance
Select item 3276931	NM_000505.4(F12):c.1126G>T (p.Gly376Trp)	F12 (G376W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2077756	NM_000505.4(F12):c.1125C>G (p.Gly375=)	F12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1165	NM_000505.4(F12):c.1115G>C (p.Arg372Pro)	SLC34A1, F12 (R372P)	Single nucleotide variant (missense variant)	FACTOR XII (LOCARNO)	GPathogenic
Select item 3276935	NM_000505.4(F12):c.1114C>T (p.Arg372Cys)	F12 (R372C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 352992	NM_000505.4(F12):c.1107G>C (p.Ser369=)	F12	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2656120	NM_000505.4(F12):c.1101G>C (p.Leu367=)	F12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2463318	NM_000505.4(F12):c.1079G>T (p.Gly360Val)	F12 (G360V)	Single nucleotide variant (missense variant)	Factor XII deficiency disease +1 more	GUncertain significance
Select item 2331332	NM_000505.4(F12):c.1073G>T (p.Ser358Ile)	F12 (S358I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239726	NM_000505.4(F12):c.1064G>T (p.Gly355Val)	F12 (G355V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469248	NM_000505.4(F12):c.1045C>T (p.Pro349Ser)	F12 (P349S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 225352	NM_000505.4(F12):c.1027G>C (p.Ala343Pro)	F12 (A343P)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2239522	NM_000505.4(F12):c.1025C>G (p.Pro342Arg)	F12 (P342R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 352993	NM_000505.4(F12):c.1025C>T (p.Pro342Leu)	F12 (P342L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 3