30045[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 153402	GRCh38/hg38 16p12.3(chr16:18759489-19293402)x3	ARL6IP1, CLEC19A +24 more	Copy number gain	See cases	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 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 2646268	NM_015092.5(SMG1):c.9975G>A (p.Ala3325=)	SMG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646269	NM_015092.5(SMG1):c.9811T>C (p.Leu3271=)	SMG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 743439	NM_015092.5(SMG1):c.8496A>G (p.Leu2832=)	SMG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2646270	NM_015092.5(SMG1):c.7474T>C (p.Leu2492=)	SMG1	Single nucleotide variant (synonymous variant)	not provided	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 737502	NM_015092.5(SMG1):c.5624-7A>T	SMG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 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 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 773577	NM_015092.5(SMG1):c.3625G>T (p.Ala1209Ser)	SMG1 (A1209S)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 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 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 788680	NM_015092.5(SMG1):c.2796A>G (p.Pro932=)	SMG1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 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 782723	NM_015092.5(SMG1):c.2102C>T (p.Thr701Met)	SMG1 (T701M)	Single nucleotide variant (missense variant)	not provided	GBenign
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 771484	NM_015092.5(SMG1):c.1200A>G (p.Ala400=)	SMG1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2646271	NM_015092.5(SMG1):c.496T>C (p.Leu166=)	SMG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2251155	NM_015092.5(SMG1):c.145G>A (p.Asp49Asn)	SMG1 (D49N)	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 769416	NM_015092.5(SMG1):c.34A>G (p.Ser12Gly)	LOC130058585, SMG1 (S12G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2426273	NC_000016.9:g.(?_18794331)_(19089480_?)dup	ARL6IP1, COQ7 +3 more	Duplication	not provided	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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 54