ClinVar for Gene (Select 23049) - ClinVar

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Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3166470	NM_015092.5(SMG1):c.7804G>A (p.Ala2602Thr)	SMG1 (A2602T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166469	NM_015092.5(SMG1):c.7313A>G (p.Tyr2438Cys)	SMG1 (Y2438C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166467	NM_015092.5(SMG1):c.10241T>C (p.Val3414Ala)	SMG1 (V2784A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646272	NM_015092.5(SMG1):c.39C>T (p.Gly13=)	LOC130058585, SMG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646271	NM_015092.5(SMG1):c.496T>C (p.Leu166=)	SMG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646270	NM_015092.5(SMG1):c.7474T>C (p.Leu2492=)	SMG1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2646269	NM_015092.5(SMG1):c.9811T>C (p.Leu3271=)	SMG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646268	NM_015092.5(SMG1):c.9975G>A (p.Ala3325=)	SMG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2426273	NC_000016.9:g.(?_18794331)_(19089480_?)dup	ARL6IP1, COQ7 +3 more	Duplication	not provided	GUncertain significance
Select item 2411531	NM_015092.5(SMG1):c.202C>T (p.Arg68Trp)	SMG1 (R68W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408226	NM_015092.5(SMG1):c.3442A>T (p.Thr1148Ser)	SMG1 (T1148S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395054	NM_015092.5(SMG1):c.10628G>A (p.Arg3543Gln)	SMG1 (R2913Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391857	NM_015092.5(SMG1):c.2561G>A (p.Ser854Asn)	SMG1 (S224N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384617	NM_015092.5(SMG1):c.3295A>G (p.Ile1099Val)	SMG1 (I1099V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2368047	NM_015092.5(SMG1):c.3509C>G (p.Thr1170Ser)	SMG1 (T540S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296860	NM_015092.5(SMG1):c.8051A>G (p.Tyr2684Cys)	SMG1 (Y2054C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261601	NM_015092.5(SMG1):c.3242G>A (p.Cys1081Tyr)	SMG1 (C451Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251155	NM_015092.5(SMG1):c.145G>A (p.Asp49Asn)	SMG1 (D49N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248417	NM_015092.5(SMG1):c.4741T>G (p.Tyr1581Asp)	SMG1 (Y1581D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246828	NM_015092.5(SMG1):c.2216C>T (p.Ala739Val)	SMG1 (A109V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246775	NM_015092.5(SMG1):c.833C>T (p.Thr278Ile)	SMG1 (T278I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245288	NM_015092.5(SMG1):c.4667C>T (p.Thr1556Ile)	SMG1 (T926I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242391	NM_015092.5(SMG1):c.1540A>G (p.Lys514Glu)	SMG1 (K514E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241779	NM_015092.5(SMG1):c.5246G>A (p.Ser1749Asn)	SMG1 (S1749N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237456	NM_015092.5(SMG1):c.3920T>C (p.Ile1307Thr)	SMG1 (I677T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234819	NM_015092.5(SMG1):c.9082A>G (p.Thr3028Ala)	SMG1 (T2398A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232395	NM_015092.5(SMG1):c.2239A>C (p.Thr747Pro)	SMG1 (T117P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224426	NM_015092.5(SMG1):c.4064A>T (p.Tyr1355Phe)	SMG1 (Y1355F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218790	NM_015092.5(SMG1):c.9430C>T (p.His3144Tyr)	SMG1 (H2514Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205645	NM_015092.5(SMG1):c.2258C>G (p.Ser753Cys)	SMG1 (S753C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 788680	NM_015092.5(SMG1):c.2796A>G (p.Pro932=)	SMG1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 782723	NM_015092.5(SMG1):c.2102C>T (p.Thr701Met)	SMG1 (T701M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 773577	NM_015092.5(SMG1):c.3625G>T (p.Ala1209Ser)	SMG1 (A1209S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 771484	NM_015092.5(SMG1):c.1200A>G (p.Ala400=)	SMG1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769416	NM_015092.5(SMG1):c.34A>G (p.Ser12Gly)	LOC130058585, SMG1 (S12G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 743439	NM_015092.5(SMG1):c.8496A>G (p.Leu2832=)	SMG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737502	NM_015092.5(SMG1):c.5624-7A>T	SMG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 443422	GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3	ACSM1, ACSM2A +128 more	Copy number gain	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221511	GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3	AMDHD2, ANKS3 +202 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic
Select item 153402	GRCh38/hg38 16p12.3(chr16:18759489-19293402)x3	ARL6IP1, CLEC19A +24 more	Copy number gain	See cases	GUncertain significance
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	LOC125146428, LOC125146429 +400 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 54