ClinVar for Gene (Select 162282) - ClinVar

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Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3120706	NM_001370326.1(ANKFN1):c.977C>T (p.Thr326Ile)	ANKFN1 (T329I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120702	NM_001370326.1(ANKFN1):c.823T>A (p.Cys275Ser)	ANKFN1 (C207S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120694	NM_001370326.1(ANKFN1):c.695A>C (p.Glu232Ala)	ANKFN1 (E235A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120667	NM_001370326.1(ANKFN1):c.329C>A (p.Ser110Tyr)	ANKFN1 (S113Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120659	NM_001370326.1(ANKFN1):c.278C>T (p.Ala93Val)	ANKFN1 (A96V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120652	NM_001370326.1(ANKFN1):c.255T>G (p.Ser85Arg)	ANKFN1 (S85R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120647	NM_001370326.1(ANKFN1):c.239A>G (p.Gln80Arg)	ANKFN1 (Q83R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120643	NM_001370326.1(ANKFN1):c.2248A>G (p.Met750Val)	ANKFN1 (M682V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120630	NM_001370326.1(ANKFN1):c.1808G>A (p.Arg603His)	ANKFN1 (R535H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120622	NM_001370326.1(ANKFN1):c.142C>A (p.Gln48Lys)	ANKFN1 (Q48K +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3120621	NM_001370326.1(ANKFN1):c.1405A>T (p.Ser469Cys)	ANKFN1 (S472C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120615	NM_001370326.1(ANKFN1):c.1196A>G (p.Tyr399Cys)	ANKFN1 (Y399C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120611	NM_001370326.1(ANKFN1):c.1193A>G (p.His398Arg)	ANKFN1 (H401R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120604	NM_001370326.1(ANKFN1):c.1079C>T (p.Pro360Leu)	ANKFN1 (P292L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120600	NM_001370326.1(ANKFN1):c.1073C>T (p.Thr358Met)	ANKFN1 (T358M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120594	NM_001370326.1(ANKFN1):c.92G>A (p.Ser31Asn)	ANKFN1 (S31N +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2685603	GRCh37/hg19 17q22(chr17:54532139-54595798)x1	ANKFN1	Copy number loss	not provided	GUncertain significance
Select item 2647948	NM_001370326.1(ANKFN1):c.2342C>A (p.Thr781Asn)	ANKFN1 (T713N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2623137	NM_001370326.1(ANKFN1):c.800C>T (p.Ala267Val)	ANKFN1 (A199V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555210	NM_001370326.1(ANKFN1):c.257C>T (p.Ala86Val)	ANKFN1 (A18V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545549	NM_001370326.1(ANKFN1):c.663G>T (p.Arg221Ser)	ANKFN1 (R153S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541183	NM_001370326.1(ANKFN1):c.373C>T (p.Leu125Phe)	ANKFN1 (L57F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525089	NM_001370326.1(ANKFN1):c.1528A>C (p.Lys510Gln)	ANKFN1 (K513Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495206	NM_001370326.1(ANKFN1):c.659A>G (p.Glu220Gly)	ANKFN1 (E220G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483522	NM_001370326.1(ANKFN1):c.2133G>C (p.Met711Ile)	ANKFN1 (M714I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463012	NM_001370326.1(ANKFN1):c.1235G>A (p.Arg412His)	ANKFN1 (R412H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457764	NM_001370326.1(ANKFN1):c.250C>T (p.His84Tyr)	ANKFN1 (H84Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399186	NM_001370326.1(ANKFN1):c.58G>A (p.Gly20Arg)	ANKFN1 (G23R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2395491	NM_001370326.1(ANKFN1):c.1234C>A (p.Arg412Ser)	ANKFN1 (R412S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372362	NM_001370326.1(ANKFN1):c.283C>T (p.Arg95Cys)	ANKFN1 (R95C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348963	NM_001370326.1(ANKFN1):c.1571C>T (p.Thr524Ile)	ANKFN1 (T524I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328239	NM_001370326.1(ANKFN1):c.66A>T (p.Arg22Ser)	ANKFN1 (R22S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2322264	NM_001370326.1(ANKFN1):c.1131A>T (p.Arg377Ser)	ANKFN1 (R309S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300991	NM_001370326.1(ANKFN1):c.637A>G (p.Thr213Ala)	ANKFN1 (T216A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300196	NM_001370326.1(ANKFN1):c.2045T>C (p.Met682Thr)	ANKFN1 (M685T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292138	NM_001370326.1(ANKFN1):c.1990A>G (p.Ser664Gly)	ANKFN1 (S596G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246469	NM_001370326.1(ANKFN1):c.526G>A (p.Asp176Asn)	ANKFN1 (D108N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240416	NM_001370326.1(ANKFN1):c.-88G>C	ANKFN1 (E2Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2228435	NM_001370326.1(ANKFN1):c.1036G>T (p.Ala346Ser)	ANKFN1 (A278S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220203	NM_001370326.1(ANKFN1):c.358A>G (p.Thr120Ala)	ANKFN1 (T120A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216075	NM_001370326.1(ANKFN1):c.2077A>G (p.Ile693Val)	ANKFN1 (I693V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207095	NM_001370326.1(ANKFN1):c.489C>G (p.Asp163Glu)	ANKFN1 (D163E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 987739	Single allele	ANKFN1, NOG	Deletion	Stapes ankylosis with broad thumbs and toes	GPathogenic
Select item 564454	GRCh37/hg19 17q22(chr17:53309576-54333707)x1	ANKFN1, MMD +3 more	Copy number loss	not provided	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 394267	GRCh37/hg19 17q22(chr17:52189051-57477162)x3	AKAP1, ANKFN1 +42 more	Copy number gain	See cases	GPathogenic
Select item 394158	GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3	AKAP1, ANKFN1 +65 more	Copy number gain	See cases	GPathogenic
Select item 157396	Single allele	ANKFN1	Deletion	Normal pregnancy +2 more	Gnot provided
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 59590	GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1	ABCC3, ACSF2 +196 more	Copy number loss	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 53