ANKZF1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935480, LOC129935481 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	LOC129935841, LOC129935842 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC129935871, LOC129935872 +986 more	Copy number gain	See cases	GPathogenic
Select item 149033	GRCh38/hg38 2q35(chr2:219081620-219758878)x3	ABCB6, ANKZF1 +77 more	Copy number gain	See cases	GUncertain significance
Select item 58844	GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1	ABCB6, ACSL3 +195 more	Copy number loss	See cases	GPathogenic
Select item 3002952	NM_018089.3(ANKZF1):c.1A>G (p.Met1Val)	ANKZF1 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1103337	NM_018089.3(ANKZF1):c.6G>A (p.Ser2=)	ANKZF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1999328	NM_018089.3(ANKZF1):c.9G>C (p.Pro3=)	ANKZF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2823200	NM_018089.3(ANKZF1):c.10G>T (p.Ala4Ser)	ANKZF1 (A4S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2071368	NM_018089.3(ANKZF1):c.14C>T (p.Pro5Leu)	ANKZF1 (P5L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2998680	NM_018089.3(ANKZF1):c.26dup (p.Ala10fs)	ANKZF1 (A10fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2414442	NM_018089.3(ANKZF1):c.31C>T (p.Pro11Ser)	ANKZF1 (P11S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2133109	NM_018089.3(ANKZF1):c.41T>A (p.Ile14Asn)	ANKZF1 (I14N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1417380	NM_018089.3(ANKZF1):c.46_47del (p.Leu16fs)	ANKZF1 (L16fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2308201	NM_018089.3(ANKZF1):c.51T>G (p.Phe17Leu)	ANKZF1 (F17L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2795757	NM_018089.3(ANKZF1):c.54C>T (p.Asp18=)	ANKZF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2833672	NM_018089.3(ANKZF1):c.58A>G (p.Ser20Gly)	ANKZF1 (S20G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1906280	NM_018089.3(ANKZF1):c.59G>A (p.Ser20Asn)	ANKZF1 (S20N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1384915	NM_018089.3(ANKZF1):c.70C>G (p.Pro24Ala)	ANKZF1 (P24A)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1722306	NM_018089.3(ANKZF1):c.71C>T (p.Pro24Leu)	ANKZF1 (P24L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2321056	NM_018089.3(ANKZF1):c.73G>A (p.Val25Ile)	ANKZF1 (V25I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1108225	NM_018089.3(ANKZF1):c.79C>G (p.Gln27Glu)	ANKZF1 (Q27E)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2101555	NM_018089.3(ANKZF1):c.83G>T (p.Gly28Val)	ANKZF1 (G28V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1590683	NM_018089.3(ANKZF1):c.85C>T (p.Leu29=)	ANKZF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2067007	NM_018089.3(ANKZF1):c.88_103del (p.Ser30fs)	ANKZF1 (S30fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2817042	NM_018089.3(ANKZF1):c.94G>C (p.Val32Leu)	ANKZF1 (V32L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1468935	NM_018089.3(ANKZF1):c.119dup (p.Ala41fs)	ANKZF1 (A41fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1905575	NM_018089.3(ANKZF1):c.123C>T (p.Ala41=)	ANKZF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1523888	NM_018089.3(ANKZF1):c.124C>G (p.Arg42Gly)	ANKZF1 (R42G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1366516	NM_018089.3(ANKZF1):c.125G>C (p.Arg42Pro)	ANKZF1 (R42P)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1357776	NM_018089.3(ANKZF1):c.139T>G (p.Ser47Ala)	ANKZF1 (S47A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2061447	NM_018089.3(ANKZF1):c.148G>A (p.Gly50Ser)	ANKZF1 (G50S)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1996848	NM_018089.3(ANKZF1):c.148+3A>G	ANKZF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3005653	NM_018089.3(ANKZF1):c.148+6_148+17del	ANKZF1	Deletion (intron variant)	not provided	GUncertain significance
Select item 1542748	NM_018089.3(ANKZF1):c.148+7T>G	ANKZF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1397980	NM_018089.3(ANKZF1):c.148+9_148+10delinsAC	ANKZF1	Indel (intron variant)	not provided	GUncertain significance
Select item 2806087	NM_018089.3(ANKZF1):c.148+11A>T	ANKZF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1082108	NM_018089.3(ANKZF1):c.148+18del	ANKZF1	Deletion (intron variant)	not provided	GLikely benign
Select item 3000251	NM_018089.3(ANKZF1):c.149-20A>G	ANKZF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1141174	NM_018089.3(ANKZF1):c.149-16C>T	ANKZF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1491421	NM_018089.3(ANKZF1):c.149-11_149-7del	ANKZF1	Deletion (intron variant)	not provided	GLikely benign
Select item 1428685	NM_018089.3(ANKZF1):c.152C>T (p.Ser51Leu)	ANKZF1 (S51L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2799207	NM_018089.3(ANKZF1):c.153A>G (p.Ser51=)	ANKZF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2029792	NM_018089.3(ANKZF1):c.153del (p.Glu53fs)	ANKZF1 (E53fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1906468	NM_018089.3(ANKZF1):c.153_154del (p.Glu55fs)	ANKZF1 (E55fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1389593	NM_018089.3(ANKZF1):c.154G>A (p.Gly52Arg)	ANKZF1 (G52R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2816399	NM_018089.3(ANKZF1):c.157G>A (p.Glu53Lys)	ANKZF1 (E53K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2770716	NM_018089.3(ANKZF1):c.159G>C (p.Glu53Asp)	ANKZF1 (E53D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2765709	NM_018089.3(ANKZF1):c.161G>A (p.Arg54Lys)	ANKZF1 (R54K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1935899	NM_018089.3(ANKZF1):c.177_180del (p.Arg59fs)	ANKZF1 (R59fs)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1166589	NM_018089.3(ANKZF1):c.173A>C (p.Glu58Ala)	ANKZF1 (E58A)	Single nucleotide variant (missense variant +1 more)	ANKZF1-related disorder +1 more	GBenign
Select item 769267	NM_018089.3(ANKZF1):c.177A>C (p.Arg59Ser)	ANKZF1 (R59S)	Single nucleotide variant (missense variant +1 more)	ANKZF1-related disorder +1 more	GBenign
Select item 1625171	NM_018089.3(ANKZF1):c.180G>A (p.Lys60=)	ANKZF1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1962208	NM_018089.3(ANKZF1):c.193C>T (p.Pro65Ser)	ANKZF1 (P65S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2851281	NM_018089.3(ANKZF1):c.194C>G (p.Pro65Arg)	ANKZF1 (P65R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2698039	NM_018089.3(ANKZF1):c.204T>C (p.Ile68=)	ANKZF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1640288	NM_018089.3(ANKZF1):c.207A>G (p.Ser69=)	ANKZF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1930291	NM_018089.3(ANKZF1):c.221G>C (p.Cys74Ser)	ANKZF1 (C74S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3008754	NM_018089.3(ANKZF1):c.236A>G (p.Gln79Arg)	ANKZF1 (Q79R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2846685	NM_018089.3(ANKZF1):c.246G>A (p.Gln82=)	ANKZF1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2870612	NM_018089.3(ANKZF1):c.247A>G (p.Asn83Asp)	ANKZF1 (N83D)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2996745	NM_018089.3(ANKZF1):c.248A>C (p.Asn83Thr)	ANKZF1 (N83T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1089743	NM_018089.3(ANKZF1):c.249CCA[1] (p.His84del)	ANKZF1 (H84del)	Microsatellite (inframe_deletion +1 more)	ANKZF1-related disorder +1 more	GLikely benign
Select item 2098805	NM_018089.3(ANKZF1):c.255A>C (p.Gln85His)	ANKZF1 (Q85H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1153204	NM_018089.3(ANKZF1):c.256G>A (p.Glu86Lys)	ANKZF1 (E86K)	Single nucleotide variant (missense variant +1 more)	ANKZF1-related disorder +1 more	GLikely benign
Select item 2040626	NM_018089.3(ANKZF1):c.261G>A (p.Gln87=)	ANKZF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2782764	NM_018089.3(ANKZF1):c.261+4A>G	ANKZF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2183378	NM_018089.3(ANKZF1):c.261+5T>A	ANKZF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1962944	NM_018089.3(ANKZF1):c.261+18G>A	ANKZF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996652	NM_018089.3(ANKZF1):c.262-15_262-14del	ANKZF1	Deletion (intron variant)	not provided	GUncertain significance
Select item 2771965	NM_018089.3(ANKZF1):c.262-1del	ANKZF1	Deletion (splice acceptor variant +1 more)	not provided	GUncertain significance
Select item 1462776	NM_018089.3(ANKZF1):c.269A>G (p.His90Arg)	ANKZF1 (H90R)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1388418	NM_018089.3(ANKZF1):c.271T>C (p.Tyr91His)	ANKZF1 (Y91H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2174945	NM_018089.3(ANKZF1):c.272A>G (p.Tyr91Cys)	ANKZF1 (Y91C)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1911369	NM_018089.3(ANKZF1):c.289C>T (p.Arg97Trp)	ANKZF1 (R97W)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1670590	NM_018089.3(ANKZF1):c.306A>G (p.Gln102=)	ANKZF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1351226	NM_018089.3(ANKZF1):c.307C>T (p.Arg103Cys)	ANKZF1 (R103C)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2704005	NM_018089.3(ANKZF1):c.310C>T (p.Leu104Phe)	ANKZF1 (L104F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1509673	NM_018089.3(ANKZF1):c.310C>G (p.Leu104Val)	ANKZF1 (L104V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2818991	NM_018089.3(ANKZF1):c.320A>G (p.Lys107Arg)	ANKZF1 (K107R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1377281	NM_018089.3(ANKZF1):c.325C>G (p.Leu109Val)	ANKZF1 (L109V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3017865	NM_018089.3(ANKZF1):c.330G>C (p.Leu110=)	ANKZF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1467883	NM_018089.3(ANKZF1):c.332C>T (p.Ser111Phe)	ANKZF1 (S111F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1445308	NM_018089.3(ANKZF1):c.334G>T (p.Ala112Ser)	ANKZF1 (A112S)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2070227	NM_018089.3(ANKZF1):c.338T>C (p.Leu113Pro)	ANKZF1 (L113P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2175545	NM_018089.3(ANKZF1):c.342C>A (p.Asp114Glu)	ANKZF1 (D114E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2414567	NM_018089.3(ANKZF1):c.345T>G (p.Phe115Leu)	ANKZF1 (F115L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1991151	NM_018089.3(ANKZF1):c.364+15G>T	ANKZF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1660873	NM_018089.3(ANKZF1):c.364+16G>C	ANKZF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1165674	NM_018089.3(ANKZF1):c.364+16G>A	ANKZF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2803575	NM_018089.3(ANKZF1):c.365-12G>A	ANKZF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2040447	NM_018089.3(ANKZF1):c.365-12G>T	ANKZF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1572920	NM_018089.3(ANKZF1):c.365-10C>T	ANKZF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1569617	NM_018089.3(ANKZF1):c.365-6C>T	ANKZF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1519877	NM_018089.3(ANKZF1):c.365G>C (p.Gly122Ala)	ANKZF1 (G122A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1084917	NM_018089.3(ANKZF1):c.375C>T (p.Ser125=)	ANKZF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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