ClinVar for Gene (Select 387082) - ClinVar

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Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3172109	NM_001002255.2(SUMO4):c.206G>C (p.Gly69Ala)	SUMO4, TAB2 (G69A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172108	NM_001002255.2(SUMO4):c.102T>G (p.Ile34Met)	SUMO4, TAB2 (I34M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3067497	NM_001002255.2(SUMO4):c.168G>A (p.Lys56=)	SUMO4, TAB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 2656989	NM_001002255.2(SUMO4):c.2T>C (p.Met1Thr)	SUMO4, TAB2 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2512211	NM_001002255.2(SUMO4):c.99G>T (p.Lys33Asn)	SUMO4, TAB2 (K33N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467850	NM_001002255.2(SUMO4):c.27A>C (p.Glu9Asp)	SUMO4, TAB2 (E9D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373964	NM_001002255.2(SUMO4):c.199A>G (p.Ile67Val)	SUMO4, TAB2 (I67V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287941	NM_001002255.2(SUMO4):c.214A>G (p.Lys72Glu)	SUMO4, TAB2 (K72E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1700889	NM_001292034.3(TAB2):c.1939+1208A>G	SUMO4, TAB2 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1460458	NC_000006.11:g.(?_149691134)_(149730855_?)del	SUMO4, TAB2	Deletion	not provided	GPathogenic
Select item 814879	GRCh37/hg19 6q25.1-25.2(chr6:149431322-154120064)x1	AKAP12, ARMT1 +31 more	Copy number loss	not provided	GPathogenic
Select item 776170	NM_001002255.2(SUMO4):c.272C>T (p.Thr91Met)	SUMO4, TAB2 (T91M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 776169	NM_001002255.2(SUMO4):c.152G>A (p.Arg51Gln)	SUMO4, TAB2 (R51Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 685788	GRCh37/hg19 6q24.3-25.3(chr6:148195086-160127254)x3	AKAP12, ARID1B +58 more	Copy number gain	not provided	GPathogenic
Select item 685250	GRCh37/hg19 6q25.1(chr6:149478703-149814558)x3	SUMO4, TAB2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 638121	GRCh37/hg19 6q24.3-25.1(chr6:148690764-150494873)x1	GINM1, KATNA1 +17 more	Copy number loss	See cases	GPathogenic
Select item 563240	GRCh37/hg19 6q24.2-25.1(chr6:144947731-150266155)x1	ADGB, EPM2A +22 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442634	GRCh37/hg19 6q24.3-25.1(chr6:148364229-149928368)x1	GINM1, KATNA1 +6 more	Copy number loss	See cases	GLikely pathogenic
Select item 442470	GRCh37/hg19 6q24.1-25.1(chr6:139513020-150389231)x1	ADAT2, ADGB +42 more	Copy number loss	See cases	GPathogenic
Select item 394905	GRCh37/hg19 6q24.2-25.1(chr6:144075695-152337005)x1	ADGB, AKAP12 +42 more	Copy number loss	See cases	GPathogenic
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 153235	GRCh38/hg38 6q25.1(chr6:149056723-149435037)x1	LOC123881328, LOC126859826 +26 more	Copy number loss	See cases	GUncertain significance
Select item 149317	GRCh38/hg38 6q24.3-25.1(chr6:147580351-150227963)x3	GINM1, KATNA1 +107 more	Copy number gain	See cases	GUncertain significance
Select item 147845	GRCh38/hg38 6q24.3-25.1(chr6:148112335-149649984)x1	GINM1, KATNA1 +69 more	Copy number loss	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 146298	GRCh38/hg38 6q25.1(chr6:149333404-149527861)x3	LOC126859827, LOC129997426 +9 more	Copy number gain	See cases	GUncertain significance
Select item 146082	GRCh38/hg38 6q24.3-25.1(chr6:147805119-150893715)x1	GINM1, IYD +131 more	Copy number loss	See cases	GPathogenic
Select item 58452	GRCh38/hg38 6q24.2-25.2(chr6:144932561-152985364)x1	ADGB, ADGB-DT +227 more	Copy number loss	See cases	GPathogenic
Select item 57320	GRCh38/hg38 6q24.3-25.1(chr6:146481119-151427629)x1	LOC132089373, LOC132090771 +172 more	Copy number loss	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic
Select item 2062	NM_001002255.2(SUMO4):c.163G>A (p.Val55Met)	SUMO4, TAB2 (V55M)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign

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Links from Gene

Items: 34