ClinVar for Gene (Select 5701) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3310973	NM_002803.4(PSMC2):c.1234G>T (p.Ala412Ser)	PSMC2, SLC26A5 (A412S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3245840	NC_000007.13:g.(?_102937907)_(108155935_?)del	ATXN7L1, BCAP29 +29 more	Deletion	not provided	GPathogenic
Select item 3220401	NM_002803.4(PSMC2):c.187A>G (p.Thr63Ala)	PSMC2, SLC26A5 (T63A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220400	NM_002803.4(PSMC2):c.1031G>A (p.Ser344Asn)	PSMC2, SLC26A5 (S344N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684499	GRCh37/hg19 7q22.1(chr7:102668567-103242665)x3	ARMC10, DNAJC2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2657888	NM_002803.4(PSMC2):c.1192A>C (p.Arg398=)	PSMC2, SLC26A5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2657887	NM_206883.3(SLC26A5):c.2042-10423T>C	PSMC2, SLC26A5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2572203	NM_002803.4(PSMC2):c.325C>T (p.Pro109Ser)	PSMC2, SLC26A5 (P109S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2538781	NM_002803.4(PSMC2):c.154A>T (p.Ile52Phe)	PSMC2, SLC26A5 (I52F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2427609	NC_000007.13:g.(?_102937907)_(107643330_?)dup	ATXN7L1, BCAP29 +26 more	Duplication	not provided	GUncertain significance
Select item 2383562	NM_002803.4(PSMC2):c.119C>G (p.Thr40Ser)	PSMC2, SLC26A5 (T40S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274274	NM_002803.4(PSMC2):c.302T>C (p.Ile101Thr)	PSMC2, SLC26A5 (I101T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527380	GRCh37/hg19 7q22.1-31.31(chr7:100676872-119156160)	ALKBH4, ANKRD7 +95 more	Copy number loss	not specified	GPathogenic
Select item 1527379	GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)	ACHE, ACTL6B +123 more	Copy number loss	not specified	GPathogenic
Select item 1459935	NC_000007.13:g.(?_102937907)_(103629803_?)del	DNAJC2, PMPCB +3 more	Deletion	Norman-Roberts syndrome +1 more	GPathogenic
Select item 1411331	NC_000007.13:g.(?_102937907)_(103151472_?)dup	SLC26A5, DNAJC2 +3 more	Duplication	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 1311746	NM_206883.3(SLC26A5):c.2042-9101dup	PSMC2, SLC26A5 (V122fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1249575	NC_000007.14:g.103352579A>G	PSMC2, SLC26A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249288	NC_000007.14:g.103352638C>T	PSMC2, SLC26A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194585	NC_000007.14:g.103352648G>T	PSMC2, SLC26A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 992332	NM_002803.4(PSMC2):c.751G>T (p.Gly251Cys)	PSMC2, SLC26A5 (G251C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 686718	GRCh37/hg19 7q22.1(chr7:102333119-103158261)x3	ARMC10, DNAJC2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563407	GRCh37/hg19 7q22.1-22.3(chr7:102910570-105104800)x1	SRPK2, PUS7 +8 more	Copy number loss	not provided	GLikely pathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 148748	GRCh38/hg38 7q22.1(chr7:102692380-103350914)x3	ARMC10, DNAJC2 +19 more	Copy number gain	See cases	GLikely benign
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 144348	GRCh38/hg38 7q22.1(chr7:103326703-103763175)x1	DNAJC2, LOC121175357 +11 more	Copy number loss	See cases	GUncertain significance
Select item 60283	GRCh38/hg38 7q22.1-22.3(chr7:102808199-105701108)x1	ARMC10, ATXN7L1 +86 more	Copy number loss	See cases	GPathogenic
Select item 57255	GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1	ALKBH4, ARMC10 +292 more	Copy number loss	See cases	GPathogenic
Select item 57092	GRCh38/hg38 7q22.1-22.3(chr7:101525795-105432462)x3	ALKBH4, ARMC10 +149 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 39