MATN1-AS1[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	TXLNA, UBXN11 +1145 more	Copy number gain	See cases	GPathogenic
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic
Select item 146124	GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1	ADGRB2, AK2 +293 more	Copy number loss	See cases	GPathogenic
Select item 145598	GRCh38/hg38 1p35.3-35.2(chr1:29015141-30983083)x3	EPB41, LAPTM5 +73 more	Copy number gain	See cases	GUncertain significance
Select item 154396	GRCh38/hg38 1p35.3-35.2(chr1:29274476-31126076)x1	LAPTM5, LINC01648 +64 more	Copy number loss	See cases	GPathogenic
Select item 153108	GRCh38/hg38 1p35.3-35.2(chr1:29860227-30864901)x3	LAPTM5, LINC01648 +39 more	Copy number gain	See cases	GUncertain significance
Select item 3123955	NM_002379.3(MATN1):c.591C>A (p.Asp197Glu)	LOC129929960, MATN1 +1 more (D197E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2514097	NM_002379.3(MATN1):c.566G>A (p.Arg189Gln)	LOC129929960, MATN1 +1 more (R189Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2326974	NM_002379.3(MATN1):c.513C>A (p.Ser171Arg)	LOC129929960, MATN1 +1 more (S171R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2387249	NM_002379.3(MATN1):c.431A>G (p.Asp144Gly)	MATN1, MATN1-AS1 (D144G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2465809	NM_002379.3(MATN1):c.410G>T (p.Gly137Val)	MATN1, MATN1-AS1 (G137V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3123954	NM_002379.3(MATN1):c.403G>A (p.Ala135Thr)	MATN1, MATN1-AS1 (A135T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2250763	NM_002379.3(MATN1):c.335A>C (p.Gln112Pro)	MATN1, MATN1-AS1 (Q112P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2249185	NM_002379.3(MATN1):c.331A>T (p.Ile111Phe)	MATN1, MATN1-AS1 (I111F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2363538	NM_002379.3(MATN1):c.328C>T (p.Arg110Cys)	MATN1, MATN1-AS1 (R110C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2487408	NM_002379.3(MATN1):c.326G>A (p.Arg109His)	MATN1, MATN1-AS1 (R109H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3123952	NM_002379.3(MATN1):c.314T>G (p.Leu105Arg)	MATN1, MATN1-AS1 (L105R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3123951	NM_002379.3(MATN1):c.257C>G (p.Ala86Gly)	MATN1, MATN1-AS1 (A86G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2455580	NM_002379.3(MATN1):c.209C>T (p.Ser70Leu)	MATN1, MATN1-AS1 (S70L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 727665	NM_002379.3(MATN1):c.154G>A (p.Val52Ile)	MATN1, MATN1-AS1 (V52I)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2591235	NM_002379.3(MATN1):c.113G>A (p.Arg38Gln)	MATN1, MATN1-AS1 (R38Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294366	NM_002379.3(MATN1):c.112C>T (p.Arg38Trp)	MATN1, MATN1-AS1 (R38W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368810	NM_002379.3(MATN1):c.110C>T (p.Thr37Met)	MATN1, MATN1-AS1 (T37M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598086	NM_002379.3(MATN1):c.107G>A (p.Arg36Gln)	MATN1, MATN1-AS1 (R36Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383905	NM_002379.3(MATN1):c.80C>A (p.Ala27Asp)	MATN1, MATN1-AS1 (A27D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226401	NM_002379.3(MATN1):c.70C>T (p.Pro24Ser)	MATN1, MATN1-AS1 (P24S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123953	NM_002379.3(MATN1):c.34T>C (p.Cys12Arg)	MATN1, MATN1-AS1 (C12R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389821	NM_002379.3(MATN1):c.25C>T (p.Leu9Phe)	MATN1, MATN1-AS1 (L9F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 29