ZNF469[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059618, LOC130059619 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	AARS1, ACD +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	HSBP1, HSD17B2 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	LOC126862439, LOC126862440 +1031 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	ACSF3, ADAD2 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC130059708, LOC130059709 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	LINC01081, LINC01082 +781 more	Copy number gain	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	ACSF3, ADAD2 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	ACSF3, ADAD2 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	ACSF3, ADAD2 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	ACSF3, ADAD2 +670 more	Copy number gain	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +566 more	Copy number gain	See cases	GPathogenic
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	ACSF3, ADAD2 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 150862	GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3	ACSF3, ANKRD11 +420 more	Copy number gain	See cases	GPathogenic
Select item 155557	GRCh38/hg38 16q24.1-24.3(chr16:86950106-89335814)x1	ACSF3, ANKRD11 +210 more	Copy number loss	See cases	GPathogenic
Select item 2503467	Single allele	LOC121587566, LOC121587567 +218 more	Deletion	KBG syndrome	GPathogenic
Select item 59520	GRCh38/hg38 16q24.2-24.3(chr16:87306529-89269079)x1	ACSF3, ANKRD11 +196 more	Copy number loss	See cases	GPathogenic
Select item 154521	GRCh38/hg38 16q24.2(chr16:87766820-88391819)x3	BANP, CA5A +35 more	Copy number gain	See cases	GUncertain significance
Select item 149103	GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3	ACSF3, ANKRD11 +268 more	Copy number gain	See cases	GLikely pathogenic
Select item 58651	GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3	ACSF3, ANKRD11 +267 more	Copy number gain	See cases	GPathogenic
Select item 59521	GRCh38/hg38 16q24.2-24.3(chr16:88159660-89506042)x1	ACSF3, ANKRD11 +160 more	Copy number loss	See cases	GPathogenic
Select item 2503468	Single allele	LOC130059772, LOC130059773 +138 more	Deletion	KBG syndrome	GPathogenic
Select item 974152	NM_000135.2(FANCA):c.2982-1580_3067-209del	ZNF469	Deletion	Fanconi anemia complementation group A	GPathogenic
Select item 974045	NM_000135.2(FANCA):c.2853-1360_2982-2296del	LOC112486220, ZNF469	Deletion	Fanconi anemia complementation group A	GPathogenic
Select item 974146	NC_000016.10:g.88317551_88325754del	ZNF469	Deletion	Fanconi anemia complementation group A	GPathogenic
Select item 974324	NM_000135.2(FANCA):c.2151+328_2778+1066del	ZNF469	Deletion	Fanconi anemia complementation group A	GPathogenic
Select item 974319	NC_000016.10:g.88334974_88341919del	ZNF469	Deletion	Fanconi anemia complementation group A	GPathogenic
Select item 974021	NC_000016.10:g.88335235_88340023del	ZNF469	Deletion	Fanconi anemia complementation group A	GPathogenic
Select item 974219	NC_000016.10:g.88341728_88343606del	ZNF469	Deletion	Fanconi anemia complementation group A	GPathogenic
Select item 974220	NM_000135.2(FANCA):c.1471-191_1626+740del	ZNF469	Deletion	Fanconi anemia complementation group A	GPathogenic
Select item 974218	NM_000135.2(FANCA):c.1471-275_1626+656del	ZNF469	Deletion	Fanconi anemia complementation group A	GPathogenic
Select item 974113	NC_000016.10:g.88342678_88348626del	ZNF469	Deletion	Fanconi anemia complementation group A	GPathogenic
Select item 390584	NM_001127464.2(ZNF469):c.-18C>A	ZNF469	Single nucleotide variant (genic upstream transcript variant)	not specified	GLikely benign
Select item 1736903	NM_001367624.2(ZNF469):c.-3G>A	ZNF469	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype	GUncertain significance
Select item 1012873	NM_001367624.2(ZNF469):c.-2C>T	ZNF469	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 1310537	NM_001367624.2(ZNF469):c.1A>G (p.Met1Val)	ZNF469 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3003277	NM_001367624.2(ZNF469):c.5del (p.Pro2fs)	ZNF469 (P2fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2746958	NM_001367624.2(ZNF469):c.4C>A (p.Pro2Thr)	ZNF469 (P2T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1750988	NM_001367624.2(ZNF469):c.5C>T (p.Pro2Leu)	ZNF469 (P2L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2704174	NM_001367624.2(ZNF469):c.17_29del (p.Pro6fs)	ZNF469 (P6fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1918723	NM_001367624.2(ZNF469):c.13C>T (p.Arg5Cys)	ZNF469 (R5C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1702118	NM_001367624.2(ZNF469):c.14G>A (p.Arg5His)	ZNF469 (R5H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 2744112	NM_001367624.2(ZNF469):c.15C>A (p.Arg5=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2739364	NM_001367624.2(ZNF469):c.19del (p.Arg7fs)	ZNF469 (R7fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2049190	NM_001367624.2(ZNF469):c.17C>T (p.Pro6Leu)	ZNF469 (P6L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2785164	NM_001367624.2(ZNF469):c.18C>G (p.Pro6=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 387713	NM_001367624.2(ZNF469):c.19C>T (p.Arg7Ter)	ZNF469 (R7*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 2420303	NM_001367624.2(ZNF469):c.20G>A (p.Arg7Gln)	ZNF469 (R7Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1213103	NM_001367624.2(ZNF469):c.24A>G (p.Gly8=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1191146	NM_001367624.2(ZNF469):c.26C>T (p.Ala9Val)	ZNF469 (A9V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1796189	NM_001367624.2(ZNF469):c.27G>A (p.Ala9=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3014709	NM_001367624.2(ZNF469):c.36dup (p.Thr13fs)	ZNF469 (T13fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 510902	NM_001367624.2(ZNF469):c.30G>A (p.Pro10=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1994265	NM_001367624.2(ZNF469):c.32C>T (p.Pro11Leu)	ZNF469 (P11L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3232800	NM_001367624.2(ZNF469):c.36C>T (p.Pro12=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2892815	NM_001367624.2(ZNF469):c.36C>G (p.Pro12=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1734061	NM_001367624.2(ZNF469):c.36C>A (p.Pro12=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 3232802	NM_001367624.2(ZNF469):c.38C>T (p.Thr13Ile)	ZNF469 (T13I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1744668	NM_001367624.2(ZNF469):c.49G>A (p.Asp17Asn)	ZNF469 (D17N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1746014	NM_001367624.2(ZNF469):c.51C>T (p.Asp17=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2796416	NM_001367624.2(ZNF469):c.57G>A (p.Gln19=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2829920	NM_001367624.2(ZNF469):c.61del (p.Arg21fs)	ZNF469 (R21fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1751589	NM_001367624.2(ZNF469):c.60C>A (p.Pro20=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1381553	NM_001367624.2(ZNF469):c.61C>T (p.Arg21Cys)	ZNF469 (R21C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 320846	NM_001367624.2(ZNF469):c.62G>A (p.Arg21His)	ZNF469 (R21H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 2497310	NM_001367624.2(ZNF469):c.68T>C (p.Val23Ala)	ZNF469 (V23A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 2881919	NM_001367624.2(ZNF469):c.70G>A (p.Ala24Thr)	ZNF469 (A24T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993621	NM_001367624.2(ZNF469):c.72C>T (p.Ala24=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2759314	NM_001367624.2(ZNF469):c.80dup (p.His29fs)	ZNF469 (H29fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 126931	NM_001367624.2(ZNF469):c.77G>C (p.Ser26Thr)	ZNF469 (S26T)	Single nucleotide variant (missense variant)	Keratoconus 1	GPathogenic
Select item 1518269	NM_001367624.2(ZNF469):c.79C>A (p.Pro27Thr)	ZNF469 (P27T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 393208	NM_001367624.2(ZNF469):c.80C>T (p.Pro27Leu)	ZNF469 (P27L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 320847	NM_001367624.2(ZNF469):c.81G>A (p.Pro27=)	ZNF469	Single nucleotide variant (synonymous variant)	ZNF469-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1427921	NM_001367624.2(ZNF469):c.86A>C (p.His29Pro)	ZNF469 (H29P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2697618	NM_001367624.2(ZNF469):c.90C>T (p.Pro30=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1928547	NM_001367624.2(ZNF469):c.93C>A (p.Ser31=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2846519	NM_001367624.2(ZNF469):c.94C>T (p.Gln32Ter)	ZNF469 (Q32*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1767891	NM_001367624.2(ZNF469):c.96G>A (p.Gln32=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 320848	NM_001367624.2(ZNF469):c.98C>T (p.Pro33Leu)	ZNF469 (P33L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 126936	NM_001367624.2(ZNF469):c.99G>A (p.Pro33=)	ZNF469	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1773654	NM_001367624.2(ZNF469):c.103C>G (p.Leu35Val)	ZNF469 (L35V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2866630	NM_001367624.2(ZNF469):c.105G>A (p.Leu35=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1940438	NM_001367624.2(ZNF469):c.113A>C (p.Asn38Thr)	ZNF469 (N38T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2797312	NM_001367624.2(ZNF469):c.114C>T (p.Asn38=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 512159	NM_001367624.2(ZNF469):c.135C>T (p.Thr45=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1771000	NM_001367624.2(ZNF469):c.136A>C (p.Lys46Gln)	ZNF469 (K46Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 320849	NM_001367624.2(ZNF469):c.139G>A (p.Gly47Ser)	ZNF469 (G47S)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 1771993	NM_001367624.2(ZNF469):c.140G>A (p.Gly47Asp)	ZNF469 (G47D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 320850	NM_001367624.2(ZNF469):c.142G>A (p.Ala48Thr)	ZNF469 (A48T)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1	GUncertain significance
Select item 2832093	NM_001367624.2(ZNF469):c.144C>A (p.Ala48=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2449522	NM_001367624.2(ZNF469):c.155G>A (p.Gly52Asp)	ZNF469 (G52D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2974121	NM_001367624.2(ZNF469):c.156C>G (p.Gly52=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1775473	NM_001367624.2(ZNF469):c.156C>T (p.Gly52=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1775660	NM_001367624.2(ZNF469):c.157G>A (p.Gly53Ser)	ZNF469 (G53S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2007592	NM_001367624.2(ZNF469):c.161A>T (p.Gln54Leu)	ZNF469 (Q54L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2079834	NM_001367624.2(ZNF469):c.173T>C (p.Met58Thr)	ZNF469 (M58T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 514884	NM_001367624.2(ZNF469):c.183C>T (p.Pro61=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign

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