ClinVar for Gene (Select 6945) - ClinVar

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Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3220408	NM_016556.4(PSMC3IP):c.617C>T (p.Thr206Met)	MLX, PSMC3IP (T143M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3211029	NM_198204.2(MLX):c.695T>C (p.Val232Ala)	MLX (V286A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210974	NM_198204.2(MLX):c.465G>C (p.Lys155Asn)	MLX (K125N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210836	NM_198204.2(MLX):c.98C>T (p.Thr33Ile)	MLX (T33I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210768	NM_198204.2(MLX):c.22C>A (p.Pro8Thr)	LOC130060910, MLX (P8T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210707	NM_198204.2(MLX):c.42+85C>T	LOC130060910, MLX (L43F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3020717	NM_016556.4(PSMC3IP):c.597+19_597+22del	MLX, PSMC3IP	Microsatellite (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2608350	NM_198204.2(MLX):c.140C>T (p.Ser47Phe)	MLX (S47F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606627	NM_016556.4(PSMC3IP):c.634G>T (p.Val212Phe)	MLX, PSMC3IP (V212F +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2602649	NM_198204.2(MLX):c.698T>G (p.Ile233Ser)	MLX (I287S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523772	NM_198204.2(MLX):c.83T>A (p.Leu28His)	MLX (L28H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523646	NM_198204.2(MLX):c.100C>T (p.Arg34Cys)	MLX (R34C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474226	NM_198204.2(MLX):c.92A>G (p.Glu31Gly)	MLX (E31G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2422709	NC_000017.10:g.(?_40688291)_(40729741_?)dup	COASY, HSD17B1 +3 more	Duplication	Mucopolysaccharidosis, MPS-III-B +1 more	GUncertain significance
Select item 2395852	NM_198204.2(MLX):c.136G>A (p.Gly46Ser)	MLX (G46S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377876	NM_198204.2(MLX):c.522A>C (p.Glu174Asp)	MLX (E144D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307676	NM_198204.2(MLX):c.104A>G (p.Lys35Arg)	MLX (K35R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204385	NM_198204.2(MLX):c.42+91T>C	LOC130060910, MLX (S45P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1283516	NM_198204.2(MLX):c.506A>G (p.Gln169Arg)	MLX (Q139R +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1181471	NM_016556.4(PSMC3IP):c.*9C>T	MLX, PSMC3IP	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 812136	NM_016556.4(PSMC3IP):c.614del (p.Glu205fs)	MLX, PSMC3IP (E126fs +3 more)	Deletion (frameshift variant +2 more)	Ovarian dysgenesis 3	GPathogenic
Select item 756256	NM_198204.2(MLX):c.75C>T (p.Asp25=)	MLX	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 738119	NM_198204.2(MLX):c.135C>T (p.Ile45=)	MLX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 732828	NM_198204.2(MLX):c.170-5C>T	MLX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 725850	NM_198204.2(MLX):c.42+24C>T	LOC130060910, MLX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 725511	NM_198204.2(MLX):c.42+66C>T	LOC130060910, MLX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 686402	GRCh37/hg19 17q21.2(chr17:40595473-40785031)x3	ATP6V0A1, COASY +6 more	Copy number gain	not provided	GUncertain significance
Select item 686203	GRCh37/hg19 17q21.2(chr17:40583927-40778487)x3	ATP6V0A1, COASY +6 more	Copy number gain	not provided	GUncertain significance
Select item 564446	GRCh37/hg19 17q21.2(chr17:40570771-40797461)x3	HSD17B1, NAGLU +7 more	Copy number gain	not provided	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 30741	NM_198204.2(MLX):c.*1418CCT[1]	MLX, PSMC3IP	Microsatellite (splice acceptor variant +1 more)	Ovarian dysgenesis 3	GPathogenic

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Links from Gene

Items: 35