LTBP4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 678508	NM_003573.2(LTBP4):c.-201C>T	LTBP4	Single nucleotide variant	not provided	GBenign
Select item 489307	NM_003573.2(LTBP4):c.2T>C (p.Met1Thr)	LTBP4 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 513133	NM_003573.2(LTBP4):c.9C>T (p.Asp3=)	LTBP4	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 432842	NM_003573.2(LTBP4):c.10G>A (p.Val4Ile)	LTBP4 (V4I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 515656	NM_003573.2(LTBP4):c.16+18C>T	LTBP4	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 668714	NM_003573.2(LTBP4):c.17-2227C>T	LOC113939973, LTBP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3349609	NM_003573.2(LTBP4):c.17-1969C>A	LTBP4	Single nucleotide variant (intron variant)	LTBP4-related disorder	GLikely benign
Select item 3352277	NM_003573.2(LTBP4):c.17-1964C>T	LTBP4	Single nucleotide variant (intron variant)	LTBP4-related disorder	GLikely benign
Select item 666629	NM_001042544.1(LTBP4):c.108G>A (p.Gln36=)	LTBP4	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 3035573	NM_001042544.1(LTBP4):c.114C>A (p.Val38=)	LTBP4	Single nucleotide variant (synonymous variant +1 more)	LTBP4-related disorder	GBenign
Select item 3038923	NM_003573.2(LTBP4):c.17-1807C>T	LTBP4	Single nucleotide variant (intron variant)	LTBP4-related disorder	GLikely benign
Select item 1178562	NM_003573.2(LTBP4):c.17-1781A>G	LTBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219386	NM_003573.2(LTBP4):c.17-288_17-286del	LTBP4	Deletion (intron variant)	not provided	GLikely benign
Select item 1286634	NM_003573.2(LTBP4):c.17-243G>T	LTBP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226027	NM_003573.2(LTBP4):c.17-126C>T	LTBP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1634191	NM_003573.2(LTBP4):c.17-19T>C	LTBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967747	NM_003573.2(LTBP4):c.17-13C>G	LTBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1417945	NM_003573.2(LTBP4):c.17C>T (p.Ala6Val)	LTBP4 (A6V)	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2956373	NM_003573.2(LTBP4):c.18G>A (p.Ala6=)	LTBP4 (V50I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1343570	NM_003573.2(LTBP4):c.25T>C (p.Phe9Leu)	LTBP4 (F9L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2196526	NM_003573.2(LTBP4):c.68C>T (p.Ala23Val)	LTBP4 (A23V)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2994355	NM_003573.2(LTBP4):c.69A>C (p.Ala23=)	LTBP4 (I67L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1310651	NM_003573.2(LTBP4):c.71C>T (p.Ser24Phe)	LTBP4 (S24F)	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1182746	NM_003573.2(LTBP4):c.76-56G>A	LTBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1805044	NM_003573.2(LTBP4):c.76-2A>G	LTBP4	Single nucleotide variant (splice acceptor variant +1 more)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
Select item 1323255	NM_003573.2(LTBP4):c.76-1G>A	LTBP4	Single nucleotide variant (splice acceptor variant +1 more)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GPathogenic
Select item 1589757	NM_003573.2(LTBP4):c.78C>G (p.Ser26=)	LTBP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 329298	NM_003573.2(LTBP4):c.79C>T (p.Leu27=)	LTBP4	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies +1 more	GBenign/Likely benign
Select item 2016260	NM_003573.2(LTBP4):c.97T>C (p.Phe33Leu)	LTBP4 (F70L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1413233	NM_003573.2(LTBP4):c.110G>A (p.Arg37Gln)	LTBP4 (R37Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1920915	NM_003573.2(LTBP4):c.125A>G (p.Lys42Arg)	LTBP4 (K42R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1956072	NM_003573.2(LTBP4):c.131G>A (p.Cys44Tyr)	LTBP4 (C44Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1896521	NM_003573.2(LTBP4):c.133G>A (p.Ala45Thr)	LTBP4 (A45T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1962480	NM_003573.2(LTBP4):c.140C>T (p.Pro47Leu)	LTBP4 (P84L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2905728	NM_003573.2(LTBP4):c.144G>A (p.Gln48=)	LTBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1176381	NM_003573.2(LTBP4):c.146G>T (p.Arg49Leu)	LTBP4 (R49L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1960014	NM_003573.2(LTBP4):c.154A>T (p.Asn52Tyr)	LTBP4 (N52Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1648392	NM_003573.2(LTBP4):c.159A>C (p.Pro53=)	LTBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1194888	NM_003573.2(LTBP4):c.163C>T (p.Pro55Ser)	LTBP4 (P55S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302535	NM_003573.2(LTBP4):c.172C>T (p.Pro58Ser)	LTBP4 (P58S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1670310	NM_003573.2(LTBP4):c.183C>T (p.Ser61=)	LTBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 329299	NM_003573.2(LTBP4):c.194G>A (p.Arg65Lys)	LTBP4 (R65K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2864651	NM_003573.2(LTBP4):c.199A>C (p.Arg67=)	LTBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2035317	NM_003573.2(LTBP4):c.202_203del (p.Gln68fs)	LTBP4 (Q68fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 329300	NM_003573.2(LTBP4):c.213C>A (p.Leu71=)	LTBP4	Single nucleotide variant (synonymous variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
Select item 1339881	NM_003573.2(LTBP4):c.230+2T>G	LTBP4	Single nucleotide variant (splice donor variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Gnot provided
Select item 506514	NM_003573.2(LTBP4):c.230+13T>A	LTBP4	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1915837	NM_003573.2(LTBP4):c.230+14C>T	LTBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223262	NM_003573.2(LTBP4):c.230+102del	LTBP4	Deletion (intron variant)	not provided	GBenign
Select item 679981	NM_003573.2(LTBP4):c.231-214C>A	LTBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187894	NM_003573.2(LTBP4):c.231-185T>C	LTBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679487	NM_003573.2(LTBP4):c.231-114G>A	LTBP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 893559	NM_003573.2(LTBP4):c.231-14C>G	LTBP4	Single nucleotide variant (intron variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
Select item 2907924	NM_003573.2(LTBP4):c.231-8C>T	LTBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 374463	NM_003573.2(LTBP4):c.231-3C>G	LTBP4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1938102	NM_003573.2(LTBP4):c.239A>G (p.Glu80Gly)	LTBP4 (E80G +1 more)	Single nucleotide variant (missense variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies +1 more	GUncertain significance
Select item 2118994	NM_003573.2(LTBP4):c.244A>G (p.Arg82Gly)	LTBP4 (R119G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 189236	NM_003573.2(LTBP4):c.254del (p.Leu85fs)	LTBP4 (L122fs +1 more)	Deletion (frameshift variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies +1 more	GPathogenic/Likely pathogenic
Select item 1409474	NM_003573.2(LTBP4):c.260G>T (p.Arg87Leu)	LTBP4 (R87L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2025873	NM_003573.2(LTBP4):c.269C>G (p.Pro90Arg)	LTBP4 (P127R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2556040	NM_003573.2(LTBP4):c.272G>A (p.Arg91Gln)	LTBP4 (R91Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 893560	NM_003573.2(LTBP4):c.273G>C (p.Arg91=)	LTBP4	Single nucleotide variant (synonymous variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
Select item 2974471	NM_003573.2(LTBP4):c.279A>T (p.Pro93=)	LTBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1916409	NM_003573.2(LTBP4):c.282G>C (p.Gly94=)	LTBP4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1477448	NM_003573.2(LTBP4):c.286C>T (p.Arg96Trp)	LTBP4 (R133W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2074132	NM_003573.2(LTBP4):c.291A>G (p.Gly97=)	LTBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 228843	NM_003573.2(LTBP4):c.304A>G (p.Arg102Gly)	LTBP4 (R102G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 329301	NM_003573.2(LTBP4):c.310C>G (p.Pro104Ala)	LTBP4 (P104A +1 more)	Single nucleotide variant (missense variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies +1 more	GUncertain significance
Select item 682319	NM_003573.2(LTBP4):c.315G>A (p.Gln105=)	LTBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3042801	NM_003573.2(LTBP4):c.318T>C (p.Arg106=)	LTBP4	Single nucleotide variant (synonymous variant)	LTBP4-related disorder	GLikely benign
Select item 2973452	NM_003573.2(LTBP4):c.324C>G (p.Pro108=)	LTBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1533302	NM_003573.2(LTBP4):c.324C>T (p.Pro108=)	LTBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3292267	NM_003573.2(LTBP4):c.332A>G (p.Lys111Arg)	LTBP4 (K111R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1562210	NM_003573.2(LTBP4):c.333G>A (p.Lys111=)	LTBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 893561	NM_003573.2(LTBP4):c.334G>T (p.Ala112Ser)	LTBP4 (A149S +1 more)	Single nucleotide variant (missense variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
Select item 2857468	NM_003573.2(LTBP4):c.336C>A (p.Ala112=)	LTBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2116301	NM_003573.2(LTBP4):c.338C>G (p.Pro113Arg)	LTBP4 (P113R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1197256	NM_003573.2(LTBP4):c.340+96C>T	LTBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221176	NM_003573.2(LTBP4):c.340+101T>C	LTBP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678506	NM_003573.2(LTBP4):c.340+1122G>C	LTBP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678507	NM_003573.2(LTBP4):c.340+1125A>C	LTBP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2441765	NM_001042545.2(LTBP4):c.5C>T (p.Ala2Val)	LOC130064472, LTBP4 (A2V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1179810	NM_001042545.2(LTBP4):c.14T>G (p.Val5Gly)	LTBP4, LOC130064472 (V5G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3025078	NM_001042545.2(LTBP4):c.36A>G (p.Leu12=)	LOC130064472, LTBP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 517252	NM_001042545.2(LTBP4):c.56_67dup (p.Leu19_Gln22dup)	LTBP4, LOC130064472	Duplication (inframe_insertion +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3069146	NM_001042545.2(LTBP4):c.113del (p.Pro38fs)	LTBP4 (P38fs)	Deletion (frameshift variant +1 more)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GPathogenic
Select item 1335341	NM_001042545.2(LTBP4):c.123C>T (p.Cys41=)	LTBP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 226724	NM_001042545.2(LTBP4):c.135C>T (p.Cys45=)	LTBP4	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 403063	NM_001042545.2(LTBP4):c.211C>T (p.Pro71Ser)	LTBP4 (P71S)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 1189341	NM_001042545.2(LTBP4):c.251-281G>A	LTBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195038	NM_001042545.2(LTBP4):c.251-223G>A	LTBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2806173	NM_001042545.2(LTBP4):c.251-5C>T	LTBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1932158	NM_001042545.2(LTBP4):c.269G>C (p.Cys90Ser)	LTBP4 (C157S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1934361	NM_001042545.2(LTBP4):c.275A>G (p.Asn92Ser)	LTBP4 (N92S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3235012	NM_001042545.2(LTBP4):c.283G>A (p.Val95Met)	LTBP4 (V125M +2 more)	Single nucleotide variant (missense variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
Select item 450016	NM_001042545.2(LTBP4):c.284T>C (p.Val95Ala)	LTBP4 (V125A +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2790279	NM_001042545.2(LTBP4):c.285G>A (p.Val95=)	LTBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1810295	NM_001042545.2(LTBP4):c.289G>A (p.Val97Met)	LTBP4 (V127M +2 more)	Single nucleotide variant (missense variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Gnot provided

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