UBE2J1[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	AKIRIN2, ANKRD6 +299 more	Copy number loss	See cases	GPathogenic
Select item 58438	GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1	AKIRIN2, ANKRD6 +220 more	Copy number loss	See cases	GPathogenic
Select item 146487	GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1	SMIM8, SNHG5 +247 more	Copy number loss	See cases	GPathogenic
Select item 147590	GRCh38/hg38 6q14.3-15(chr6:85370716-90669793)x1	AKIRIN2, ANKRD6 +157 more	Copy number loss	See cases	GPathogenic
Select item 146127	GRCh38/hg38 6q14.3-16.1(chr6:85804273-93189258)x1	LOC129389576, LOC129389577 +153 more	Copy number loss	See cases	GPathogenic
Select item 3024363	GRCh38/hg38 6q15(chr6:88638119-89726639)	ANKRD6, GABRR1 +45 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 153743	GRCh38/hg38 6q15(chr6:89007799-89705596)x3	ANKRD6, GABRR1 +39 more	Copy number gain	See cases	GUncertain significance
Select item 3185523	NM_016021.3(UBE2J1):c.944A>G (p.Asp315Gly)	UBE2J1 (D315G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481149	NM_016021.3(UBE2J1):c.877A>G (p.Ile293Val)	UBE2J1 (I293V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298795	NM_016021.3(UBE2J1):c.851A>G (p.His284Arg)	UBE2J1 (H284R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466246	NM_016021.3(UBE2J1):c.830C>T (p.Pro277Leu)	UBE2J1 (P277L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229309	NM_016021.3(UBE2J1):c.818A>G (p.Gln273Arg)	UBE2J1 (Q273R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606597	NM_016021.3(UBE2J1):c.816C>G (p.Ile272Met)	UBE2J1 (I272M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368238	NM_016021.3(UBE2J1):c.799A>G (p.Thr267Ala)	UBE2J1 (T267A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238952	NM_016021.3(UBE2J1):c.776A>T (p.Gln259Leu)	UBE2J1 (Q259L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373931	NM_016021.3(UBE2J1):c.769G>A (p.Ala257Thr)	UBE2J1 (A257T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185522	NM_016021.3(UBE2J1):c.766C>T (p.Arg256Trp)	UBE2J1 (R256W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294989	NM_016021.3(UBE2J1):c.677C>T (p.Ser226Leu)	UBE2J1 (S226L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314886	NM_016021.3(UBE2J1):c.631C>A (p.Gln211Lys)	UBE2J1 (Q211K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185521	NM_016021.3(UBE2J1):c.602T>C (p.Leu201Ser)	UBE2J1 (L201S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330557	NM_016021.3(UBE2J1):c.483G>T (p.Leu161Phe)	UBE2J1 (L161F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610692	NM_016021.3(UBE2J1):c.347T>C (p.Ile116Thr)	UBE2J1 (I116T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240400	NM_016021.3(UBE2J1):c.314C>T (p.Ser105Leu)	UBE2J1 (S105L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185520	NM_016021.3(UBE2J1):c.266A>G (p.Lys89Arg)	UBE2J1 (K89R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 153749	GRCh38/hg38 6q15(chr6:89339079-92096042)x3	ANKRD6, BACH2 +60 more	Copy number gain	See cases	GUncertain significance
Select item 3185519	NM_016021.3(UBE2J1):c.131C>T (p.Thr44Met)	UBE2J1 (T44M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685209	GRCh37/hg19 6q15-16.1(chr6:88018122-94565168)x1	AKIRIN2, ANKRD6 +24 more	Copy number loss	not provided	GPathogenic
Select item 1711170	GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1	AKIRIN2, ANKRD6 +65 more	Copy number loss	See cases	GUncertain significance
Select item 1527264	GRCh37/hg19 6q15(chr6:89720586-90415315)	ANKRD6, GABRR1 +8 more	Copy number gain	not specified	GUncertain significance
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	AFG1L, AK9 +138 more	Copy number loss	not specified	GPathogenic
Select item 1527249	GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	BACH2, ADGRB3 +88 more	Copy number gain	not specified	GPathogenic
Select item 1340233	GRCh37/hg19 6q15-16.1(chr6:90008961-93761490)x1	ANKRD6, BACH2 +8 more	Copy number loss	not provided	GUncertain significance
Select item 689259	GRCh37/hg19 6q15-16.1(chr6:88783642-96282103)x3	ANKRD6, BACH2 +16 more	Copy number gain	not provided	GUncertain significance
Select item 688276	GRCh37/hg19 6q14.3-16.1(chr6:87627836-93698486)x1	AKIRIN2, ANKRD6 +26 more	Copy number loss	not provided	GUncertain significance
Select item 563199	GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3	AKIRIN2, ANKRD6 +56 more	Copy number gain	not provided	GPathogenic
Select item 560055	Single allele	AKIRIN2, ANKRD6 +44 more	Deletion	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 442688	GRCh37/hg19 6q15-16.1(chr6:89941373-95634177)x3	ANKRD6, BACH2 +9 more	Copy number gain	See cases	GLikely benign
Select item 441948	GRCh37/hg19 6q15(chr6:89717153-90408813)x3	ANKRD6, GABRR1 +8 more	Copy number gain	See cases	GUncertain significance

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Items: 41