13347[HGNC] - ClinVar

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Search results

Items: 50

	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 57797	GRCh38/hg38 3q25.32-25.33(chr3:158614801-159429760)x3	GFM1, IQCJ +19 more	Copy number gain	See cases	GUncertain significance
Select item 60124	GRCh38/hg38 3q25.32(chr3:158652224-159036456)x1	GFM1, LOC100287290 +13 more	Copy number loss	See cases	GUncertain significance
Select item 678894	NM_024996.7(GFM1):c.1601+38A>G	GFM1, LXN	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1200566	NM_024996.7(GFM1):c.1601+90T>G	GFM1, LXN	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 715641	NM_020169.4(LXN):c.641G>A (p.Arg214His)	GFM1, LXN (R214H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 931251	NM_020169.4(LXN):c.570+1G>C	LXN, GFM1	Single nucleotide variant (intron variant +1 more)	See cases	GUncertain significance
Select item 2304393	NM_020169.4(LXN):c.560T>C (p.Ile187Thr)	GFM1, LXN (I187T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 718512	NM_020169.4(LXN):c.501G>A (p.Lys167=)	GFM1, LXN	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 711374	NM_020169.4(LXN):c.406G>A (p.Val136Ile)	GFM1, LXN (V136I)	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 2237417	NM_020169.4(LXN):c.391C>G (p.Pro131Ala)	GFM1, LXN (P131A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292345	NM_020169.4(LXN):c.322C>G (p.Gln108Glu)	GFM1, LXN (Q108E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292342	NM_020169.4(LXN):c.208T>C (p.Cys70Arg)	GFM1, LXN (C70R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 771704	NM_020169.4(LXN):c.143G>A (p.Arg48Lys)	GFM1, LXN (R48K)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 2463612	NM_020169.4(LXN):c.80C>T (p.Thr27Ile)	GFM1, LXN (T27I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292344	NM_020169.4(LXN):c.65A>G (p.Asn22Ser)	GFM1, LXN (N22S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324480	NM_020169.4(LXN):c.52C>G (p.Gln18Glu)	GFM1, LXN (Q18E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 777145	NM_020169.4(LXN):c.46G>A (p.Val16Met)	GFM1, LXN (V16M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 714235	NM_020169.4(LXN):c.38C>T (p.Ala13Val)	LXN, GFM1 (A13V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3339993	NC_000003.11:g.(?_158362315)_(158413371_?)dup	GFM1, LXN	Duplication	not specified	GUncertain significance
Select item 3247044	NC_000003.11:g.(?_158369865)_(158409256_?)del	GFM1, LXN	Deletion	not provided	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2577161	NC_000003.11:g.(158384176_158399783)_(158410362_?)dup	GFM1, LXN	Duplication	not specified	GUncertain significance
Select item 2426907	NC_000003.11:g.(?_158362424)_(158409256_?)dup	GFM1, LXN	Duplication	not provided	GUncertain significance
Select item 2426906	NC_000003.11:g.(?_158376701)_(158409266_?)del	GFM1, LXN	Deletion	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 1527051	GRCh37/hg19 3q25.32(chr3:158060351-158665225)	GFM1, LXN +4 more	Copy number gain	not specified	GUncertain significance
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 1325533	Single allele	GFM1, LXN +2 more	Duplication	not provided	GUncertain significance
Select item 1070155	NC_000003.11:g.(?_158362414)_(158409266_?)del	GFM1, LXN	Deletion	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 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 688198	GRCh37/hg19 3q25.32(chr3:158149940-158802473)x3	GFM1, IQCJ +6 more	Copy number gain	not provided	GUncertain significance
Select item 686474	GRCh37/hg19 3q25.32(chr3:157542717-158388665)x3	GFM1, LXN +3 more	Copy number gain	not provided	GUncertain significance
Select item 562831	GRCh37/hg19 3q25.32-25.33(chr3:157991657-159073531)x3	MFSD1, MLF1 +7 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 253863	GRCh37/hg19 3q25.32(chr3:158361184-158410354)x3	GFM1, LXN	Copy number gain	See cases	GUncertain significance
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: 50