ClinVar for Gene (Select 4234) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244244	NC_000012.11:g.(?_56711393)_(58190366_?)dup	MIR616, PAN2 +51 more	Duplication	Cataract 15 multiple types +3 more	GUncertain significance
Select item 3125440	NM_005371.6(METTL1):c.648G>A (p.Leu216=)	METTL1 (V155I)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3125439	NM_005371.6(METTL1):c.633C>T (p.Phe211=)	METTL1 (R150*)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3125438	NM_005371.6(METTL1):c.597T>C (p.Asp199=)	METTL1 (C138R)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3125437	NM_005371.6(METTL1):c.582G>A (p.Val194=)	METTL1 (V133I)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3125436	NM_005371.6(METTL1):c.580G>T (p.Val194Leu)	METTL1 (G132V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125435	NM_005371.6(METTL1):c.566G>A (p.Arg189Lys)	METTL1 (R189K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125433	NM_005371.6(METTL1):c.354C>A (p.Asp118Glu)	METTL1 (D118E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125432	NM_005371.6(METTL1):c.34G>C (p.Glu12Gln)	LOC126861543, METTL1 (E12Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596921	NM_005371.6(METTL1):c.486C>T (p.Pro162=)	METTL1 (R101*)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2594312	NM_005371.6(METTL1):c.163G>A (p.Ala55Thr)	LOC126861543, METTL1 (A55T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588527	NM_005371.6(METTL1):c.37G>A (p.Ala13Thr)	LOC126861543, METTL1 (A13T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525203	NM_005371.6(METTL1):c.694G>A (p.Gly232Arg)	METTL1 (G232R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2498574	GRCh37/hg19 12q13.3-14.1(chr12:57064059-59314016)x1	PIP4K2C, SDR9C7 +45 more	Copy number loss	not provided	GLikely pathogenic
Select item 2422308	NC_000012.11:g.(?_57534470)_(58190366_?)dup	AGAP2, ARHGAP9 +27 more	Duplication	Familial melanoma	GUncertain significance
Select item 2405105	NM_005371.6(METTL1):c.790C>T (p.Leu264Phe)	METTL1 (L264F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372725	NM_005371.6(METTL1):c.409C>T (p.Leu137Phe)	METTL1 (L137F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364551	NM_005371.6(METTL1):c.247A>G (p.Ile83Val)	LOC126861543, METTL1 (I83V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353787	NM_005371.6(METTL1):c.355C>T (p.Arg119Trp)	METTL1 (R119W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349580	NM_005371.6(METTL1):c.787G>A (p.Val263Ile)	METTL1 (V263I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333739	NM_005371.6(METTL1):c.371G>A (p.Arg124His)	METTL1 (R124H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282274	NM_005371.6(METTL1):c.598G>A (p.Val200Met)	METTL1 (V200M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234205	NM_005371.6(METTL1):c.295C>G (p.Pro99Ala)	METTL1 (P99A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220576	NM_005371.6(METTL1):c.107G>A (p.Arg36His)	LOC126861543, METTL1 (R36H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209742	NM_005371.6(METTL1):c.419A>G (p.Asn140Ser)	METTL1 (N140S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808720	GRCh37/hg19 12q13.3-14.1(chr12:57631073-58236597)x1	AGAP2, ARHGAP9 +27 more	Copy number loss	not provided	GLikely pathogenic
Select item 1410313	NC_000012.11:g.(?_57881874)_(58190366_?)dup	AGAP2, ARHGEF25 +17 more	Duplication	not provided	GUncertain significance
Select item 1320319	NM_005371.6(METTL1):c.370C>T (p.Arg124Cys)	METTL1 (R124C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1320318	NM_005371.6(METTL1):c.326G>A (p.Arg109Gln)	METTL1 (R109Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 815529	GRCh37/hg19 12q13.3-14.1(chr12:57582163-59031979)x1	AGAP2, ARHGAP9 +31 more	Copy number loss	not provided	GLikely pathogenic
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 208908	NM_005371.6(METTL1):c.542T>C (p.Leu181Pro)	METTL1 (L181P)	Single nucleotide variant (missense variant +1 more)	Abnormality of neuronal migration	GUncertain significance
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 59020	GRCh38/hg38 12q13.3-14.1(chr12:57041158-60273934)x1	AGAP2, AGAP2-AS1 +162 more	Copy number loss	See cases	GPathogenic
Select item 59019	GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1	AGAP2, AGAP2-AS1 +199 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 38