ZNF341[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 577

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 153447	GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	ACSS2, ACTL10 +254 more	Copy number gain	See cases	GPathogenic
Select item 146117	GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1	AAR2, ACSS2 +214 more	Copy number loss	See cases	GPathogenic
Select item 3042456	NM_001282933.2(ZNF341):c.-7C>T	ZNF341, LOC130065694	Single nucleotide variant (5 prime UTR variant +1 more)	ZNF341-related disorder	GBenign
Select item 1641636	NM_001282933.2(ZNF341):c.6G>A (p.Ala2=)	LOC130065694, ZNF341	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1571364	NM_001282933.2(ZNF341):c.12G>A (p.Ala4=)	LOC130065694, ZNF341	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2635695	NM_001282933.2(ZNF341):c.20A>G (p.Glu7Gly)	LOC130065694, ZNF341 (E7G)	Single nucleotide variant (missense variant +2 more)	ZNF341-related disorder	GUncertain significance
Select item 1925017	NM_001282933.2(ZNF341):c.21G>A (p.Glu7=)	LOC130065694, ZNF341	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3195288	NM_001282933.2(ZNF341):c.28G>C (p.Glu10Gln)	LOC130065694, ZNF341 (E10Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2416205	NM_001282933.2(ZNF341):c.30G>A (p.Glu10=)	LOC130065694, ZNF341	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2414789	NM_001282933.2(ZNF341):c.31G>A (p.Gly11Arg)	LOC130065694, ZNF341 (G11R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2965828	NM_001282933.2(ZNF341):c.31+12_31+23dup	LOC130065694, ZNF341	Duplication (intron variant)	not provided	GLikely benign
Select item 1954184	NM_001282933.2(ZNF341):c.31+7G>T	LOC130065694, ZNF341	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1924263	NM_001282933.2(ZNF341):c.31+7G>A	LOC130065694, ZNF341	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1570362	NM_001282933.2(ZNF341):c.31+7G>C	LOC130065694, ZNF341	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1925066	NM_001282933.2(ZNF341):c.31+9C>T	ZNF341, LOC130065694	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2816513	NM_001282933.2(ZNF341):c.31+15_31+26dup	LOC130065694, ZNF341	Duplication (intron variant)	not provided	GLikely benign
Select item 2071629	NM_001282933.2(ZNF341):c.31+16_31+17dup	LOC130065694, ZNF341	Duplication (intron variant)	not provided	GLikely benign
Select item 1637453	NM_001282933.2(ZNF341):c.31+16G>A	LOC130065694, ZNF341	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2729072	NM_001282933.2(ZNF341):c.31+17C>T	LOC130065694, ZNF341	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2096953	NM_001282933.2(ZNF341):c.31+18del	LOC130065694, ZNF341	Deletion (intron variant)	not provided	GLikely benign
Select item 2959077	NM_001282933.2(ZNF341):c.31+24_31+29dup	LOC130065694, ZNF341	Duplication (intron variant)	not provided	GLikely benign
Select item 1649145	NM_001282933.2(ZNF341):c.31+18C>T	LOC130065694, ZNF341	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1615915	NM_001282933.2(ZNF341):c.31+22_31+30del	LOC130065694, ZNF341	Deletion (intron variant)	not provided	GLikely benign
Select item 1907051	NM_001282933.2(ZNF341):c.31+19G>C	LOC130065694, ZNF341	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2688478	NM_001282933.2(ZNF341):c.31+36C>T	LOC130065694, ZNF341	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1607026	NM_001282933.2(ZNF341):c.32-20G>A	ZNF341	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1551930	NM_001282933.2(ZNF341):c.32-12T>C	ZNF341	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1573055	NM_001282933.2(ZNF341):c.32-11T>C	ZNF341	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2087524	NM_001282933.2(ZNF341):c.41A>G (p.Asn14Ser)	ZNF341 (N14S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2997924	NM_001282933.2(ZNF341):c.48C>T (p.Thr16=)	ZNF341	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2242741	NM_001282933.2(ZNF341):c.49G>A (p.Val17Ile)	ZNF341 (V17I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3020745	NM_001282933.2(ZNF341):c.72G>A (p.Leu24=)	ZNF341	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2752004	NM_001282933.2(ZNF341):c.90C>A (p.Val30=)	ZNF341 (S6Y)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2732393	NM_001282933.2(ZNF341):c.92del (p.Pro31fs)	ZNF341 (P31fs)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 1523282	NM_001282933.2(ZNF341):c.91C>T (p.Pro31Ser)	ZNF341 (P31S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2076406	NM_001282933.2(ZNF341):c.97_102del (p.Pro33_Thr34del)	ZNF341	Deletion (inframe_deletion +2 more)	not provided	GUncertain significance
Select item 2796548	NM_001282933.2(ZNF341):c.98C>T (p.Pro33Leu)	ZNF341 (R9* +1 more)	Single nucleotide variant (missense variant +2 more)	Hyper-IgE recurrent infection syndrome 3, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 2162111	NM_001282933.2(ZNF341):c.99G>A (p.Pro33=)	ZNF341 (R9Q)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3195285	NM_001282933.2(ZNF341):c.111T>A (p.Ser37Arg)	ZNF341 (V13E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1633434	NM_001282933.2(ZNF341):c.111T>C (p.Ser37=)	ZNF341 (V13A)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1031000	NM_001282933.2(ZNF341):c.119C>T (p.Ala40Val)	ZNF341 (A40V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 1564224	NM_001282933.2(ZNF341):c.120G>A (p.Ala40=)	ZNF341 (R16H)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1461388	NM_001282933.2(ZNF341):c.121C>T (p.Pro41Ser)	ZNF341 (P41S)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1918359	NM_001282933.2(ZNF341):c.122C>T (p.Pro41Leu)	ZNF341 (P17S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1540567	NM_001282933.2(ZNF341):c.123C>G (p.Pro41=)	ZNF341 (P17R)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2965989	NM_001282933.2(ZNF341):c.143-18C>A	ZNF341	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1628500	NM_001282933.2(ZNF341):c.143-15C>T	ZNF341	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1515704	NM_001282933.2(ZNF341):c.143-14G>A	ZNF341	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1626751	NM_001282933.2(ZNF341):c.143-6C>T	ZNF341	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1581768	NM_001282933.2(ZNF341):c.147C>T (p.Asp49=)	ZNF341	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1167188	NM_001282933.2(ZNF341):c.150G>T (p.Glu50Asp)	ZNF341 (E50D)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 2034421	NM_001282933.2(ZNF341):c.156A>G (p.Val52=)	ZNF341	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1640204	NM_001282933.2(ZNF341):c.165C>T (p.Cys55=)	ZNF341	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1899318	NM_001282933.2(ZNF341):c.166G>A (p.Gly56Arg)	ZNF341 (G56R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1524915	NM_001282933.2(ZNF341):c.172T>G (p.Cys58Gly)	ZNF341 (C58G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2021220	NM_001282933.2(ZNF341):c.180G>A (p.Lys60=)	ZNF341	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1947364	NM_001282933.2(ZNF341):c.189C>T (p.Asn63=)	ZNF341	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2075720	NM_001282933.2(ZNF341):c.191C>T (p.Ser64Leu)	ZNF341 (S64L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2976032	NM_001282933.2(ZNF341):c.192G>A (p.Ser64=)	ZNF341	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2089642	NM_001282933.2(ZNF341):c.195G>C (p.Leu65=)	ZNF341	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1345435	NM_001282933.2(ZNF341):c.196C>T (p.Pro66Ser)	ZNF341 (P66S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1059646	NM_001282933.2(ZNF341):c.200C>T (p.Ala67Val)	ZNF341 (A67V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1592700	NM_001282933.2(ZNF341):c.210C>T (p.Thr70=)	ZNF341	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2181138	NM_001282933.2(ZNF341):c.217C>T (p.Arg73Trp)	ZNF341 (R73W)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2778284	NM_001282933.2(ZNF341):c.240C>T (p.Ala80=)	ZNF341	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2997233	NM_001282933.2(ZNF341):c.241C>G (p.Pro81Ala)	ZNF341 (P81A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1516165	NM_001282933.2(ZNF341):c.241C>T (p.Pro81Ser)	ZNF341 (P81S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1166159	NM_001282933.2(ZNF341):c.244G>A (p.Ala82Thr)	ZNF341 (A82T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 1573443	NM_001282933.2(ZNF341):c.255A>G (p.Thr85=)	ZNF341	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2784482	NM_001282933.2(ZNF341):c.284C>T (p.Pro95Leu)	ZNF341 (P95L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1980441	NM_001282933.2(ZNF341):c.290C>T (p.Ser97Leu)	ZNF341 (S97L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1567905	NM_001282933.2(ZNF341):c.291G>A (p.Ser97=)	ZNF341	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1549758	NM_001282933.2(ZNF341):c.305C>T (p.Ala102Val)	ZNF341 (A102V)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1454551	NM_001282933.2(ZNF341):c.306G>A (p.Ala102=)	ZNF341	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3335547	NM_001282933.2(ZNF341):c.307G>A (p.Val103Ile)	ZNF341 (V103I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1714881	NM_001282933.2(ZNF341):c.315G>T (p.Gln105His)	ZNF341 (Q105H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1664805	NM_001282933.2(ZNF341):c.318C>T (p.Ala106=)	ZNF341	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1426927	NM_001282933.2(ZNF341):c.319C>T (p.Pro107Ser)	ZNF341 (P107S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1424894	NM_001282933.2(ZNF341):c.320C>T (p.Pro107Leu)	ZNF341 (P107L)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1972045	NM_001282933.2(ZNF341):c.328G>A (p.Ala110Thr)	ZNF341 (A110T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1345899	NM_001282933.2(ZNF341):c.332A>G (p.Asn111Ser)	ZNF341 (N111S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1354513	NM_001282933.2(ZNF341):c.334C>T (p.Arg112Cys)	ZNF341 (R112C)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2047515	NM_001282933.2(ZNF341):c.335G>A (p.Arg112His)	ZNF341 (R112H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1897129	NM_001282933.2(ZNF341):c.339+7G>T	ZNF341	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2628155	NM_001282933.2(ZNF341):c.339+76G>T	ZNF341	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1168605	NM_001282933.2(ZNF341):c.340-20C>G	ZNF341	Single nucleotide variant (intron variant)	Hyper-IgE recurrent infection syndrome 3, autosomal recessive +1 more	GBenign/Likely benign
Select item 1559836	NM_001282933.2(ZNF341):c.340-19T>C	ZNF341	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1642901	NM_001282933.2(ZNF341):c.340-16C>T	ZNF341	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1625497	NM_001282933.2(ZNF341):c.340-16C>G	ZNF341	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2027521	NM_001282933.2(ZNF341):c.340-9A>T	ZNF341	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956582	NM_001282933.2(ZNF341):c.340-8C>A	ZNF341	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2284362	NM_001282933.2(ZNF341):c.341T>A (p.Ile114Asn)	ZNF341 (I114N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1419312	NM_001282933.2(ZNF341):c.347C>G (p.Thr116Arg)	ZNF341 (T116R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1555190	NM_001282933.2(ZNF341):c.351C>T (p.Tyr117=)	ZNF341	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2126771	NM_001282933.2(ZNF341):c.363C>T (p.Pro121=)	ZNF341	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2112354	NM_001282933.2(ZNF341):c.365C>T (p.Pro122Leu)	ZNF341 (P32L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1670312	NM_001282933.2(ZNF341):c.366G>T (p.Pro122=)	ZNF341	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1168992	NM_001282933.2(ZNF341):c.366G>A (p.Pro122=)	ZNF341	Single nucleotide variant (synonymous variant +1 more)	Hyper-IgE recurrent infection syndrome 3, autosomal recessive +2 more	GBenign

<< First< Prev

Page of 6