ClinVar for Gene (Select 51068) - ClinVar

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Links from Gene

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3300144	NM_015938.5(NMD3):c.417A>C (p.Gln139His)	NMD3 (Q139H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300143	NM_015938.5(NMD3):c.649C>A (p.Pro217Thr)	NMD3 (P217T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300142	NM_015938.5(NMD3):c.363G>T (p.Met121Ile)	NMD3 (M121I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300141	NM_015938.5(NMD3):c.68C>T (p.Pro23Leu)	NMD3 (P23L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300140	NM_015938.5(NMD3):c.755A>G (p.Asp252Gly)	NMD3 (D252G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300139	NM_015938.5(NMD3):c.434A>G (p.His145Arg)	NMD3 (H145R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300137	NM_015938.5(NMD3):c.123C>G (p.Asp41Glu)	NMD3 (D41E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200791	NM_015938.5(NMD3):c.965G>A (p.Ser322Asn)	NMD3 (S322N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200789	NM_015938.5(NMD3):c.907C>T (p.Pro303Ser)	NMD3 (P303S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200788	NM_015938.5(NMD3):c.827G>A (p.Arg276Gln)	NMD3 (R276Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200787	NM_015938.5(NMD3):c.1472A>C (p.Gln491Pro)	NMD3 (Q491P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200786	NM_015938.5(NMD3):c.1369A>G (p.Asn457Asp)	NMD3 (N457D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200785	NM_015938.5(NMD3):c.1238G>A (p.Arg413His)	NMD3 (R413H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200784	NM_015938.5(NMD3):c.1229G>A (p.Arg410Gln)	NMD3 (R410Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200783	NM_015938.5(NMD3):c.1228C>T (p.Arg410Trp)	NMD3 (R410W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200782	NM_015938.5(NMD3):c.1027G>A (p.Gly343Arg)	NMD3 (G343R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062742	GRCh37/hg19 3q26.1(chr3:160702083-161262537)x3	SPTSSB, B3GALNT1 +3 more	Copy number gain	not specified	GUncertain significance
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2608041	NM_015938.5(NMD3):c.686A>G (p.Gln229Arg)	NMD3 (Q229R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605334	NM_015938.5(NMD3):c.1082G>C (p.Cys361Ser)	NMD3 (C361S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600066	NM_015938.5(NMD3):c.1114G>A (p.Gly372Arg)	NMD3 (G372R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570336	NM_015938.5(NMD3):c.1282A>G (p.Arg428Gly)	NMD3 (R428G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559846	NM_015938.5(NMD3):c.985C>T (p.Arg329Cys)	NMD3 (R329C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544567	NM_015938.5(NMD3):c.862A>G (p.Thr288Ala)	NMD3 (T288A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517998	NM_015938.5(NMD3):c.1403G>A (p.Ser468Asn)	NMD3 (S468N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515046	NM_015938.5(NMD3):c.70A>G (p.Ile24Val)	NMD3 (I24V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491961	NM_015938.5(NMD3):c.1085G>C (p.Arg362Pro)	NMD3 (R362P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472833	NM_015938.5(NMD3):c.381A>T (p.Gln127His)	NMD3 (Q127H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395885	NM_015938.5(NMD3):c.1117G>C (p.Asp373His)	NMD3 (D373H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386693	NM_015938.5(NMD3):c.953T>G (p.Val318Gly)	NMD3 (V318G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371824	NM_015938.5(NMD3):c.543G>A (p.Met181Ile)	NMD3 (M181I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354548	NM_015938.5(NMD3):c.1411G>A (p.Asp471Asn)	NMD3 (D471N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354498	NM_015938.5(NMD3):c.980T>C (p.Ile327Thr)	NMD3 (I327T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334650	NM_015938.5(NMD3):c.290A>G (p.Asp97Gly)	NMD3 (D97G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254933	NM_015938.5(NMD3):c.1243C>T (p.Arg415Cys)	NMD3 (R415C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243873	NM_015938.5(NMD3):c.1298C>T (p.Thr433Ile)	NMD3 (T433I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241446	NM_015938.5(NMD3):c.560G>A (p.Arg187His)	NMD3 (R187H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1340591	GRCh37/hg19 3q26.1(chr3:160826404-161251252)x1	NMD3, OTOL1 +1 more	Copy number loss	not provided	GLikely benign
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 980546	GRCh37/hg19 3q25.33-26.1(chr3:160488346-161322790)x1	SPTSSB, B3GALNT1 +3 more	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 562835	GRCh37/hg19 3q25.33-26.1(chr3:160696866-161262537)x3	NMD3, B3GALNT1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 443270	GRCh37/hg19 3q26.1(chr3:160955748-161267703)x1	NMD3, OTOL1 +1 more	Copy number loss	See cases	GLikely benign
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 254009	GRCh37/hg19 3q26.1(chr3:160727290-161223046)x3	NMD3, SPTSSB +3 more	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
Select item 161698	NM_015938.5(NMD3):c.503C>T (p.Thr168Ile)	NMD3 (T168I)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 155049	GRCh38/hg38 3q25.33-26.1(chr3:160951779-161441991)x1	B3GALNT1, LINC02067 +11 more	Copy number loss	See cases	GUncertain significance
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 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 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 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 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 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 61