ClinVar for Gene (Select 338692) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3123253	NM_207354.3(ANKRD13D):c.940G>A (p.Gly314Arg)	ANKRD13D (G314R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123241	NM_207354.3(ANKRD13D):c.790G>A (p.Glu264Lys)	ANKRD13D (E264K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123235	NM_207354.3(ANKRD13D):c.768G>T (p.Lys256Asn)	ANKRD13D (K169N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123231	NM_207354.3(ANKRD13D):c.688A>G (p.Ile230Val)	ANKRD13D (I143V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123213	NM_207354.3(ANKRD13D):c.52C>T (p.Arg18Trp)	ANKRD13D, LOC130006179 (R18W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3123205	NM_207354.3(ANKRD13D):c.37C>G (p.Leu13Val)	ANKRD13D, LOC130006179 (L13V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3123202	NM_207354.3(ANKRD13D):c.32A>C (p.His11Pro)	ANKRD13D, LOC130006179 (H11P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3123194	NM_207354.3(ANKRD13D):c.1787G>A (p.Arg596Gln)	ANKRD13D (R509Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123153	NM_207354.3(ANKRD13D):c.1178A>G (p.Lys393Arg)	ANKRD13D (K393R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123149	NM_207354.3(ANKRD13D):c.116G>A (p.Arg39His)	ANKRD13D (R39H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3123146	NM_207354.3(ANKRD13D):c.1043G>T (p.Arg348Leu)	ANKRD13D (R261L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2613799	NM_207354.3(ANKRD13D):c.23T>G (p.Phe8Cys)	ANKRD13D, LOC130006179 (F8C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2591775	NM_207354.3(ANKRD13D):c.578G>A (p.Arg193Gln)	ANKRD13D (R106Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549482	NM_207354.3(ANKRD13D):c.1400G>C (p.Gly467Ala)	ANKRD13D (G380A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548897	NM_207354.3(ANKRD13D):c.1606G>A (p.Ala536Thr)	ANKRD13D (A536T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469462	NM_207354.3(ANKRD13D):c.1424G>A (p.Arg475His)	ANKRD13D (R388H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 2401363	NM_207354.3(ANKRD13D):c.509G>A (p.Arg170Gln)	ANKRD13D (R170Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401303	NM_207354.3(ANKRD13D):c.610A>C (p.Thr204Pro)	ANKRD13D (T204P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393093	NM_207354.3(ANKRD13D):c.448C>T (p.Arg150Trp)	ANKRD13D (R150W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386678	NM_207354.3(ANKRD13D):c.1381G>A (p.Val461Met)	ANKRD13D (V461M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332460	NM_207354.3(ANKRD13D):c.1315G>T (p.Val439Leu)	ANKRD13D (V439L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321904	NM_207354.3(ANKRD13D):c.644T>C (p.Met215Thr)	ANKRD13D (M215T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321421	NM_207354.3(ANKRD13D):c.1429G>A (p.Glu477Lys)	ANKRD13D (E390K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315440	NM_207354.3(ANKRD13D):c.1493C>G (p.Ala498Gly)	ANKRD13D (A498G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302917	NM_207354.3(ANKRD13D):c.1603C>T (p.Arg535Trp)	ANKRD13D (R448W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298696	NM_207354.3(ANKRD13D):c.1222G>A (p.Val408Ile)	ANKRD13D (V408I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275360	NM_207354.3(ANKRD13D):c.515G>A (p.Arg172Gln)	ANKRD13D (R172Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268731	NM_207354.3(ANKRD13D):c.806G>A (p.Ser269Asn)	ANKRD13D (S182N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268362	NM_207354.3(ANKRD13D):c.1436T>A (p.Leu479His)	ANKRD13D (L392H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266356	NM_207354.3(ANKRD13D):c.670A>C (p.Ser224Arg)	ANKRD13D (S224R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242000	NM_207354.3(ANKRD13D):c.1262G>A (p.Arg421His)	ANKRD13D (R334H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227628	NM_207354.3(ANKRD13D):c.217G>A (p.Gly73Ser)	ANKRD13D (G73S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2219970	NM_207354.3(ANKRD13D):c.1543C>T (p.Arg515Trp)	ANKRD13D (R428W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815437	GRCh37/hg19 11q13.2(chr11:66820585-67979510)x3	ALDH3B2, ACY3 +32 more	Copy number gain	not provided	GUncertain significance
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
Select item 443398	GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	ACTN3, ANKRD13D +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 253811	GRCh37/hg19 11q13.2(chr11:66024774-67430781)x3	GRK2, LRFN4 +57 more	Copy number gain	See cases	GUncertain significance
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	LOC130006222, LOC130006223 +282 more	Copy number loss	See cases	GPathogenic
Select item 146304	GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1	ACY3, AIP +206 more	Copy number loss	See cases	GLikely pathogenic
Select item 92041	NM_207354.3(ANKRD13D):c.251G>T (p.Gly84Val)	ANKRD13D (G84V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 59757	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	LOC130006168, LOC130006169 +212 more	Copy number gain	See cases	GPathogenic
Select item 58892	GRCh38/hg38 11q13.2(chr11:66885910-67698250)x1	ACY3, AIP +129 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 49