26277[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 154806	GRCh38/hg38 14q11.2-12(chr14:23984065-25374494)x1	ADCY4, CARMIL3 +122 more	Copy number loss	See cases	GPathogenic
Select item 312943	NM_001099274.3(TINF2):c.*91T>C	TINF2	Single nucleotide variant (3 prime UTR variant)	Revesz syndrome +1 more	GBenign
Select item 312944	NM_001099274.3(TINF2):c.*53G>A	TINF2	Single nucleotide variant (3 prime UTR variant)	Dyskeratosis congenita, autosomal dominant 3 +1 more	GUncertain significance
Select item 880922	NM_001099274.3(TINF2):c.*33C>T	TINF2	Single nucleotide variant (3 prime UTR variant)	Revesz syndrome +1 more	GBenign/Likely benign
Select item 3037164	NM_001099274.3(TINF2):c.1353G>A (p.Leu451=)	TINF2	Single nucleotide variant (synonymous variant +1 more)	TINF2-related disorder	GLikely benign
Select item 1948320	NM_001099274.3(TINF2):c.1349C>T (p.Pro450Leu)	TINF2 (P450L +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1954043	NM_001099274.3(TINF2):c.1343C>T (p.Ser448Phe)	TINF2 (S413F +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2584667	NM_001099274.3(TINF2):c.1338_1339del (p.Asp446fs)	TINF2 (D411fs +1 more)	Deletion (frameshift variant +1 more)	Revesz syndrome	GUncertain significance
Select item 529171	NM_001099274.3(TINF2):c.1337A>T (p.Asp446Val)	TINF2 (D446V +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1369342	NM_001099274.3(TINF2):c.1333A>G (p.Arg445Gly)	TINF2 (R410G +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1123543	NM_001099274.3(TINF2):c.1332T>C (p.Cys444=)	TINF2	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 965002	NM_001099274.3(TINF2):c.1331G>A (p.Cys444Tyr)	TINF2 (C409Y +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2792370	NM_001099274.3(TINF2):c.1329C>T (p.Asp443=)	TINF2	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 1424609	NM_001099274.3(TINF2):c.1313C>T (p.Pro438Leu)	TINF2 (P438L +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 837709	NM_001099274.3(TINF2):c.1312C>G (p.Pro438Ala)	TINF2 (P403A +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1446967	NM_001099274.3(TINF2):c.1309A>G (p.Ile437Val)	TINF2 (I437V +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2763643	NM_001099274.3(TINF2):c.1307C>G (p.Ala436Gly)	TINF2 (A401G +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 662182	NM_001099274.3(TINF2):c.1307C>T (p.Ala436Val)	TINF2 (A401V +1 more)	Single nucleotide variant (missense variant +1 more)	Revesz syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1092685	NM_001099274.3(TINF2):c.1305T>C (p.Gly435=)	TINF2	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2163017	NM_001099274.3(TINF2):c.1304G>A (p.Gly435Asp)	TINF2 (G435D +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2779978	NM_001099274.3(TINF2):c.1302C>A (p.His434Gln)	TINF2 (H434Q +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1081500	NM_001099274.3(TINF2):c.1302C>T (p.His434=)	TINF2	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2049703	NM_001099274.3(TINF2):c.1300C>G (p.His434Asp)	TINF2 (H399D +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1089718	NM_001099274.3(TINF2):c.1299C>G (p.Gly433=)	TINF2	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 701358	NM_001099274.3(TINF2):c.1297G>C (p.Gly433Arg)	TINF2 (G433R +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2968106	NM_001099274.3(TINF2):c.1292C>A (p.Pro431His)	TINF2 (P431H +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 646280	NM_001099274.3(TINF2):c.1292del (p.Pro431fs)	TINF2 (P431fs +1 more)	Deletion (frameshift variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1518839	NM_001099274.3(TINF2):c.1291C>A (p.Pro431Thr)	TINF2 (P396T +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1443232	NM_001099274.3(TINF2):c.1291C>G (p.Pro431Ala)	TINF2 (P396A +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1671797	NM_001099274.3(TINF2):c.1290C>A (p.Pro430=)	TINF2	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 312945	NM_001099274.3(TINF2):c.1290C>G (p.Pro430=)	TINF2	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 3 +2 more	GBenign/Likely benign
Select item 2894784	NM_001099274.3(TINF2):c.1289C>T (p.Pro430Leu)	TINF2 (P430L +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2714377	NM_001099274.3(TINF2):c.1288C>G (p.Pro430Ala)	TINF2 (P395A +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 862199	NM_001099274.3(TINF2):c.1288C>A (p.Pro430Thr)	TINF2 (P430T +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 664557	NM_001099274.3(TINF2):c.1288C>T (p.Pro430Ser)	TINF2 (P395S +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1516884	NM_001099274.3(TINF2):c.1285C>A (p.Leu429Ile)	TINF2 (L394I +1 more)	Single nucleotide variant (missense variant +1 more)	Revesz syndrome +3 more	GUncertain significance
Select item 1366435	NM_001099274.3(TINF2):c.1285C>G (p.Leu429Val)	TINF2 (L429V +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1145665	NM_001099274.3(TINF2):c.1285C>T (p.Leu429=)	TINF2	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2164715	NM_001099274.3(TINF2):c.1284C>T (p.Tyr428=)	TINF2	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 1458944	NM_001099274.3(TINF2):c.1281A>G (p.Glu427=)	TINF2	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2190590	NM_001099274.3(TINF2):c.1280A>G (p.Glu427Gly)	TINF2 (E427G +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1404106	NM_001099274.3(TINF2):c.1271C>T (p.Thr424Ile)	TINF2 (T389I +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1607651	NM_001099274.3(TINF2):c.1269C>A (p.Pro423=)	TINF2	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 1581474	NM_001099274.3(TINF2):c.1269C>T (p.Pro423=)	TINF2	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 1996491	NM_001099274.3(TINF2):c.1267C>T (p.Pro423Ser)	TINF2 (P388S +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 459577	NM_001099274.3(TINF2):c.1253T>C (p.Phe418Ser)	TINF2 (F418S +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2913147	NM_001099274.3(TINF2):c.1250A>C (p.Lys417Thr)	TINF2 (K417T +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2149890	NM_001099274.3(TINF2):c.1249A>G (p.Lys417Glu)	TINF2 (K382E +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 3 +1 more	GUncertain significance
Select item 238288	NM_001099274.3(TINF2):c.1236C>T (p.Asn412=)	TINF2	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 3 +5 more	GBenign/Likely benign
Select item 2716541	NM_001099274.3(TINF2):c.1231G>C (p.Glu411Gln)	TINF2 (E411Q +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2198060	NM_001099274.3(TINF2):c.1227T>C (p.Ser409=)	TINF2	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +1 more	GLikely benign
Select item 423579	NM_001099274.3(TINF2):c.1227del (p.Leu410fs)	TINF2 (L375fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2126928	NM_001099274.3(TINF2):c.1224A>G (p.Glu408=)	TINF2	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 1041635	NM_001099274.3(TINF2):c.1224A>C (p.Glu408Asp)	TINF2 (E373D +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 654332	NM_001099274.3(TINF2):c.1222G>C (p.Glu408Gln)	TINF2 (E373Q +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1511749	NM_001099274.3(TINF2):c.1222-2A>G	TINF2	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1488329	NM_001099274.3(TINF2):c.1222-3C>A	TINF2	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1050861	NM_001099274.3(TINF2):c.1222-3C>T	TINF2	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1133668	NM_001099274.3(TINF2):c.1222-4A>T	TINF2	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 1664405	NM_001099274.3(TINF2):c.1222-5T>G	TINF2	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 1692544	NM_001099274.3(TINF2):c.1222-11del	TINF2	Deletion (3 prime UTR variant +1 more)	Dyskeratosis congenita	GConflicting classifications of pathogenicity
Select item 1582362	NM_001099274.3(TINF2):c.1221+14A>C	TINF2	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2048744	NM_001099274.3(TINF2):c.1221+11del	TINF2	Deletion (3 prime UTR variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 848064	NM_001099274.3(TINF2):c.1221+3G>C	TINF2	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1006085	NM_001099274.3(TINF2):c.1221+1G>C	TINF2	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1467380	NM_001099274.3(TINF2):c.1211G>A (p.Gly404Glu)	TINF2 (G369E +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1023751	NM_001099274.3(TINF2):c.1211G>T (p.Gly404Val)	TINF2 (G369V +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2712854	NM_001099274.3(TINF2):c.1209G>T (p.Gln403His)	TINF2 (Q403H +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2060797	NM_001099274.3(TINF2):c.1209G>C (p.Gln403His)	TINF2 (Q368H +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3046956	NM_001099274.3(TINF2):c.1208del (p.Gln403fs)	TINF2 (Q368fs +1 more)	Deletion (frameshift variant +1 more)	TINF2-related disorder	GUncertain significance
Select item 1685176	NM_001099274.3(TINF2):c.1202dup (p.Asn401fs)	TINF2 (N366fs +1 more)	Duplication (frameshift variant +1 more)	not specified	GUncertain significance
Select item 2758100	NM_001099274.3(TINF2):c.1188TGA[1] (p.Asp397del)	TINF2 (D362del +1 more)	Microsatellite (inframe_deletion +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1669054	NM_001099274.3(TINF2):c.1188T>C (p.Ser396=)	TINF2	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2186374	NM_001099274.3(TINF2):c.1185C>T (p.Asp395=)	TINF2	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3015705	NM_001099274.3(TINF2):c.1166T>G (p.Ile389Arg)	TINF2 (I389R +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1035652	NM_001099274.3(TINF2):c.1166T>A (p.Ile389Lys)	TINF2 (I354K +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 413987	NM_001099274.3(TINF2):c.1166T>C (p.Ile389Thr)	TINF2 (I389T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1998192	NM_001099274.3(TINF2):c.1157T>A (p.Val386Asp)	TINF2 (V351D +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 652944	NM_001099274.3(TINF2):c.1156G>A (p.Val386Ile)	TINF2 (V351I +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 1636382	NM_001099274.3(TINF2):c.1155C>T (p.Ser385=)	TINF2	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2059353	NM_001099274.3(TINF2):c.1151G>A (p.Ser384Asn)	TINF2 (S384N +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 312946	NM_001099274.3(TINF2):c.1140G>A (p.Pro380=)	TINF2	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign
Select item 841738	NM_001099274.3(TINF2):c.1139C>T (p.Pro380Leu)	TINF2 (P345L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 2904843	NM_001099274.3(TINF2):c.1136C>G (p.Pro379Arg)	TINF2 (P344R +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 962397	NM_001099274.3(TINF2):c.1130-1G>T	TINF2	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 999239	NM_001099274.3(TINF2):c.1130-3_1130-2del	TINF2	Deletion (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2105531	NM_001099274.3(TINF2):c.1130-4A>T	TINF2	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2818922	NM_001099274.3(TINF2):c.1130-7C>T	TINF2	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 1580884	NM_001099274.3(TINF2):c.1130-10C>T	TINF2	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 1198544	NM_001099274.3(TINF2):c.1129+48_1129+50dup	TINF2	Duplication (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1572211	NM_001099274.3(TINF2):c.1129+15T>A	TINF2	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GBenign
Select item 437007	NM_001099274.3(TINF2):c.1123_1129+1del	TINF2	Deletion (3 prime UTR variant +1 more)	not specified +1 more	GUncertain significance

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