11925[HGNC] - ClinVar

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Items: 48

	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 150519	GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3	ACTL6A, ACTRT3 +306 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 154453	GRCh38/hg38 3q26.31(chr3:171968610-173131280)x1	LOC112935909, LOC112935910 +35 more	Copy number loss	See cases	GLikely pathogenic
Select item 1237910	NM_003810.4(TNFSF10):c.*207G>A	TNFSF10	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1236214	NM_003810.4(TNFSF10):c.825T>C (p.Phe275=)	TNFSF10	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 3180318	NM_003810.4(TNFSF10):c.758A>G (p.Asn253Ser)	TNFSF10 (N253S)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3180317	NM_003810.4(TNFSF10):c.726C>G (p.Ile242Met)	TNFSF10 (I242M)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3180316	NM_003810.4(TNFSF10):c.609C>A (p.Asp203Glu)	TNFSF10 (D203E)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2606907	NM_003810.4(TNFSF10):c.565T>G (p.Tyr189Asp)	TNFSF10 (Y189D)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3180315	NM_003810.4(TNFSF10):c.533A>G (p.Glu178Gly)	TNFSF10 (E178G)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2271932	NM_003810.4(TNFSF10):c.456C>G (p.Asn152Lys)	TNFSF10 (N152K)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2331369	NM_003810.4(TNFSF10):c.434A>C (p.Lys145Thr)	TNFSF10 (K145T)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2551336	NM_003810.4(TNFSF10):c.344G>C (p.Arg115Thr)	TNFSF10 (R115T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1174337	NM_003810.4(TNFSF10):c.314-88G>A	TNFSF10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 147718	GRCh38/hg38 3q26.31(chr3:172511598-172523485)x1	LOC129937929, TNFSF10	Copy number loss	See cases	GBenign
Select item 2538164	NM_003810.4(TNFSF10):c.307G>A (p.Val103Ile)	TNFSF10 (V103I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 759867	NM_003810.4(TNFSF10):c.261C>T (p.Leu87=)	TNFSF10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3180314	NM_003810.4(TNFSF10):c.149C>T (p.Ser50Phe)	TNFSF10 (S50F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1287431	NM_003810.4(TNFSF10):c.133-3652A>C	TNFSF10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288782	NM_003810.4(TNFSF10):c.132+44A>C	TNFSF10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 769617	NM_003810.4(TNFSF10):c.105C>T (p.Tyr35=)	TNFSF10	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 788974	NM_003810.4(TNFSF10):c.97G>A (p.Val33Ile)	TNFSF10 (V33I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3180319	NM_003810.4(TNFSF10):c.82T>A (p.Ser28Thr)	TNFSF10 (S28T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471137	NM_003810.4(TNFSF10):c.26G>C (p.Gly9Ala)	TNFSF10 (G9A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685937	GRCh37/hg19 3q26.31(chr3:171835889-173764343)x3	ECT2, FNDC3B +5 more	Copy number gain	not provided	GUncertain significance
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2422930	NC_000003.11:g.(?_168802697)_(172835521_?)dup	ACTRT3, CLDN11 +25 more	Duplication	Fanconi-Bickel syndrome	GUncertain significance
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1527050	GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)	ACTL6A, ACTRT3 +79 more	Copy number gain	not specified	GPathogenic
Select item 1340561	GRCh37/hg19 3q26.2-26.33(chr3:168118411-179867071)x3	ACTL6A, ACTRT3 +40 more	Copy number gain	not provided	GLikely pathogenic
Select item 814497	GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3	FXR1, HTR3D +113 more	Copy number gain	not provided	GPathogenic
Select item 687021	GRCh37/hg19 3q26.31(chr3:172095903-173254604)x3	ECT2, FNDC3B +5 more	Copy number gain	not provided	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 394385	GRCh37/hg19 3q26.31(chr3:171852267-172413810)x3	FNDC3B, GHSR +2 more	Copy number gain	See cases	GUncertain significance
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
Select item 221435	GRCh37/hg19 3q26.31(chr3:172003745-172520446)x3	ECT2, FNDC3B +3 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 48