17928[HGNC] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
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 3354645	NM_016556.4(PSMC3IP):c.646G>A (p.Asp216Asn)	MLX, PSMC3IP (D137N +3 more)	Single nucleotide variant (missense variant +2 more)	PSMC3IP-related disorder	GLikely benign
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 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 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 30741	NM_016556.4(PSMC3IP):c.600_602del	MLX, PSMC3IP	Microsatellite (splice acceptor variant +1 more)	Ovarian dysgenesis 3	GPathogenic
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 2606626	NM_016556.4(PSMC3IP):c.509G>A (p.Cys170Tyr)	PSMC3IP (C107Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 516592	NM_016556.4(PSMC3IP):c.487T>A (p.Tyr163Asn)	PSMC3IP (Y163N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 1982210	NM_016556.4(PSMC3IP):c.481C>G (p.Gln161Glu)	PSMC3IP (Q149E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3220407	NM_016556.4(PSMC3IP):c.474G>C (p.Glu158Asp)	PSMC3IP (E158D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3034321	NM_016556.4(PSMC3IP):c.411C>T (p.Cys137=)	PSMC3IP	Single nucleotide variant (synonymous variant +1 more)	PSMC3IP-related disorder	GLikely benign
Select item 3220406	NM_016556.4(PSMC3IP):c.383A>G (p.Lys128Arg)	PSMC3IP (K128R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475979	NM_016556.4(PSMC3IP):c.379C>G (p.Gln127Glu)	PSMC3IP (Q115E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 728134	NM_016556.4(PSMC3IP):c.363G>A (p.Leu121=)	PSMC3IP	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3220405	NM_016556.4(PSMC3IP):c.340C>G (p.Leu114Val)	PSMC3IP (L114V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1285798	NM_016556.4(PSMC3IP):c.338-15C>G	PSMC3IP	Single nucleotide variant (intron variant)	Ovarian dysgenesis 3 +1 more	GBenign
Select item 1235596	NM_016556.4(PSMC3IP):c.338-147T>C	PSMC3IP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243811	NM_016556.4(PSMC3IP):c.338-158G>A	PSMC3IP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237505	NM_016556.4(PSMC3IP):c.337+88C>T	PSMC3IP	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 779975	NM_016556.4(PSMC3IP):c.323G>A (p.Arg108His)	PSMC3IP (R29H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3310978	NM_016556.4(PSMC3IP):c.293C>T (p.Ala98Val)	PSMC3IP (A19V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 499796	NM_016556.4(PSMC3IP):c.280G>A (p.Val94Met)	PSMC3IP (V15M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3310977	NM_016556.4(PSMC3IP):c.279C>G (p.Ile93Met)	PSMC3IP (I14M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220404	NM_016556.4(PSMC3IP):c.262G>C (p.Val88Leu)	PSMC3IP (V25L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 777483	NM_016556.4(PSMC3IP):c.246T>C (p.Ser82=)	PSMC3IP	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2871673	NM_016556.4(PSMC3IP):c.226G>A (p.Asp76Asn)	PSMC3IP (D13N +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1316338	NM_016556.4(PSMC3IP):c.225+89C>T	PSMC3IP	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1245295	NM_016556.4(PSMC3IP):c.225+79G>A	PSMC3IP	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3342726	NM_016556.4(PSMC3IP):c.203AGA[1] (p.Lys69del)	PSMC3IP (K69del +1 more)	Microsatellite (inframe_deletion +2 more)	not provided	GLikely pathogenic
Select item 1501945	NM_016556.4(PSMC3IP):c.189G>T (p.Lys63Asn)	PSMC3IP (K63N)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 378436	NM_016556.4(PSMC3IP):c.136-10C>T	PSMC3IP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1225193	NM_016556.4(PSMC3IP):c.136-38_136-37del	PSMC3IP	Deletion (intron variant)	not provided	GBenign
Select item 2538400	NM_016556.4(PSMC3IP):c.100G>C (p.Gly34Arg)	PSMC3IP (G34R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2742089	NM_016556.4(PSMC3IP):c.69G>A (p.Gln23=)	PSMC3IP	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 725551	NM_016556.4(PSMC3IP):c.30G>A (p.Ala10=)	LOC130060911, PSMC3IP	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 3310975	NM_016556.4(PSMC3IP):c.14G>C (p.Arg5Pro)	PSMC3IP, LOC130060911 (R5P)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2214264	NM_016556.4(PSMC3IP):c.14G>A (p.Arg5Gln)	LOC130060911, PSMC3IP (R5Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3220403	NM_016556.4(PSMC3IP):c.13C>G (p.Arg5Gly)	LOC130060911, PSMC3IP (R5G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2047076	NM_016556.4(PSMC3IP):c.13C>T (p.Arg5Trp)	LOC130060911, PSMC3IP (R5W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +1 more	GUncertain significance
Select item 801407	NM_016556.4(PSMC3IP):c.-35C>T	PSMC3IP	Single nucleotide variant (5 prime UTR variant +1 more)	Ovarian dysgenesis 3	GUncertain significance
Select item 1710802	NC_000017.11:g.42577849G>A	PSMC3IP	Single nucleotide variant	not provided	GLikely benign
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2422709	NC_000017.10:g.(?_40688291)_(40729741_?)dup	COASY, HSD17B1 +3 more	Duplication	Charcot-Marie-Tooth disease axonal type 2V +1 more	GUncertain significance
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	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic

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Items: 52