IL12A[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 57993	GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3	ACTRT3, ARL14 +304 more	Copy number gain	See cases	GPathogenic
Select item 2490783	NM_001397992.1(IL12A):c.-86C>T	IL12A, IL12A-AS1 (S6L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109064	NM_001397992.1(IL12A):c.-57G>A	IL12A, IL12A-AS1 (A16T)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 3285728	NM_001397992.1(IL12A):c.77C>T (p.Pro26Leu)	IL12A, IL12A-AS1 (P26L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234681	NM_001397992.1(IL12A):c.86C>A (p.Thr29Asn)	IL12A, IL12A-AS1 (T63N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302940	NM_001397992.1(IL12A):c.130C>G (p.Leu44Val)	IL12A, IL12A-AS1 (L44V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 762736	NM_001397992.1(IL12A):c.204G>A (p.Glu68=)	IL12A, IL12A-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2336947	NM_001397992.1(IL12A):c.250G>A (p.Ala84Thr)	IL12A, IL12A-AS1 (A118T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109063	NM_001397992.1(IL12A):c.337T>A (p.Ser113Thr)	IL12A, IL12A-AS1 (S109T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598908	NM_001397992.1(IL12A):c.409G>A (p.Glu137Lys)	IL12A, IL12A-AS1 (E171K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729130	NM_001397992.1(IL12A):c.465A>G (p.Leu155=)	IL12A, IL12A-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3109065	NM_001397992.1(IL12A):c.475A>G (p.Met159Val)	IL12A, IL12A-AS1 (M155V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708885	NM_001397992.1(IL12A):c.529G>A (p.Val177Met)	IL12A, IL12A-AS1 (V173M +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 713905	NM_001397992.1(IL12A):c.557C>T (p.Pro186Leu)	IL12A, IL12A-AS1 (P206L +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 721071	NM_001397992.1(IL12A):c.558G>A (p.Pro186=)	IL12A, IL12A-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527050	GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)	ACTL6A, ACTRT3 +79 more	Copy number gain	not specified	GPathogenic
Select item 1527049	GRCh37/hg19 3q25.31-25.33(chr3:156768935-160158553)	C3orf80, CCNL1 +16 more	Copy number gain	not specified	GUncertain significance
Select item 1527043	GRCh37/hg19 3q24-25.33(chr3:145486960-160504834)	AADAC, AADACL2 +75 more	Copy number gain	not specified	GPathogenic
Select item 1328449	GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1	PTX3, SCHIP1 +83 more	Copy number loss	not provided	GPathogenic
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	PLOD2, PLS1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 980544	GRCh37/hg19 3q25.33(chr3:159661204-159762756)x1	IL12A	Copy number loss	not provided	GUncertain significance
Select item 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	GPathogenic
Select item 929324	GRCh37/hg19 3q25.31-25.33(chr3:156812581-160154747)x3	C3orf80, CCNL1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 635957	Single allele	IL12A, IQCJ +10 more	Duplication	Growth abnormality	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic

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Items: 37