25979[HGNC] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 57943	GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3	LOC130067459, LOC130067460 +273 more	Copy number gain	See cases	GPathogenic
Select item 3126414	NM_019008.6(MIEF1):c.50G>A (p.Gly17Asp)	MIEF1 (G17D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126415	NM_019008.6(MIEF1):c.53C>T (p.Thr18Met)	MIEF1 (T18M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279381	NM_019008.6(MIEF1):c.143G>A (p.Arg48Gln)	MIEF1 (R48Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126411	NM_019008.6(MIEF1):c.169C>G (p.Pro57Ala)	MIEF1 (P57A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126412	NM_019008.6(MIEF1):c.197C>T (p.Ser66Leu)	MIEF1 (S66L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287068	NM_019008.6(MIEF1):c.242G>A (p.Arg81Gln)	MIEF1 (R81Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294843	NM_019008.6(MIEF1):c.252C>G (p.Asn84Lys)	MIEF1 (N84K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 783887	NM_019008.6(MIEF1):c.266C>T (p.Thr89Met)	MIEF1 (T89M)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2346728	NM_019008.6(MIEF1):c.277C>T (p.Arg93Trp)	MIEF1 (R93W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227444	NM_019008.6(MIEF1):c.287A>G (p.Gln96Arg)	MIEF1 (Q96R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213284	NM_019008.6(MIEF1):c.335C>A (p.Pro112Gln)	MIEF1 (P112Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264441	NM_019008.6(MIEF1):c.430C>T (p.Arg144Trp)	MIEF1 (R144W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2626806	NM_019008.6(MIEF1):c.436C>T (p.Arg146Trp)	MIEF1	Single nucleotide variant (missense variant +1 more)	Optic atrophy 14	GPathogenic
Select item 2376739	NM_019008.6(MIEF1):c.499G>A (p.Glu167Lys)	MIEF1 (E167K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294842	NM_019008.6(MIEF1):c.551T>C (p.Met184Thr)	MIEF1 (M184T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283822	NM_019008.6(MIEF1):c.557T>C (p.Leu186Ser)	MIEF1 (L186S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126416	NM_019008.6(MIEF1):c.577G>A (p.Asp193Asn)	MIEF1 (D193N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318485	NM_019008.6(MIEF1):c.604A>G (p.Ile202Val)	MIEF1 (I202V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2653149	NM_019008.6(MIEF1):c.664G>A (p.Asp222Asn)	MIEF1 (D222N)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2473664	NM_019008.6(MIEF1):c.673A>G (p.Met225Val)	MIEF1 (M225V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2626805	NM_019008.6(MIEF1):c.718T>A (p.Tyr240Asn)	MIEF1	Single nucleotide variant (missense variant +1 more)	Optic atrophy 14	GPathogenic
Select item 783888	NM_019008.6(MIEF1):c.786C>T (p.Val262=)	MIEF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2544610	NM_019008.6(MIEF1):c.832G>A (p.Ala278Thr)	MIEF1 (A278T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208772	NM_019008.6(MIEF1):c.862C>T (p.Arg288Cys)	MIEF1 (R288C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617233	NM_019008.6(MIEF1):c.875C>T (p.Pro292Leu)	MIEF1 (P292L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 787193	NM_019008.6(MIEF1):c.911G>A (p.Arg304His)	MIEF1 (R304H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2344372	NM_019008.6(MIEF1):c.946G>C (p.Val316Leu)	MIEF1 (V316L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488052	NM_019008.6(MIEF1):c.952C>G (p.Leu318Val)	MIEF1 (L318V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218613	NM_019008.6(MIEF1):c.955G>A (p.Gly319Ser)	MIEF1 (G319S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213222	NM_019008.6(MIEF1):c.977A>G (p.Lys326Arg)	MIEF1 (K326R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2309659	NM_019008.6(MIEF1):c.1024C>T (p.Arg342Cys)	MIEF1 (R342C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378077	NM_019008.6(MIEF1):c.1031C>T (p.Ala344Val)	MIEF1 (A344V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225176	NM_019008.6(MIEF1):c.1037C>T (p.Thr346Met)	MIEF1 (T346M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126408	NM_019008.6(MIEF1):c.1070C>T (p.Ser357Leu)	MIEF1 (S357L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126409	NM_019008.6(MIEF1):c.1208T>C (p.Met403Thr)	MIEF1 (M403T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344084	NM_019008.6(MIEF1):c.1231G>T (p.Ala411Ser)	MIEF1 (A411S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126410	NM_019008.6(MIEF1):c.1312C>A (p.Leu438Ile)	MIEF1 (L438I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2213106	NM_019008.6(MIEF1):c.1316C>T (p.Thr439Ile)	MIEF1 (T439I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3247951	NC_000022.10:g.(?_39306081)_(41904073_?)dup	ACO2, ADSL +42 more	Duplication	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1809336	GRCh37/hg19 22q13.1-13.2(chr22:39768795-41946225)x3	ACO2, ADSL +29 more	Copy number gain	not provided	GUncertain significance
Select item 1408743	NC_000022.10:g.(?_39621728)_(41077932_?)dup	ADSL, ATF4 +19 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

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Items: 56